#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA10	10349	genome.wustl.edu	37	17	67186589	67186589	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:67186589C>T	ENST00000269081.4	-	19	2950	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	681					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGCCCTGGTCAGAACACTTA	0.308																																						dbGAP											0													89.0	85.0	86.0					17																	67186589		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2041G>A	17.37:g.67186589C>T	ENSP00000269081:p.Asp681Asn		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D681N	ENST00000269081.4	37	c.2041	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	9.336	1.061885	0.19987	.	.	ENSG00000154263	ENST00000269081	T	0.80994	-1.44	2.99	0.924	0.19418	.	0.215641	0.22419	U	0.060309	T	0.57946	0.2088	N	0.17838	0.53	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.13407	0.009;0.009	T	0.39354	-0.9618	10	0.06494	T	0.89	.	5.2676	0.15607	0.0:0.6237:0.1683:0.2079	.	681;681	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	N	681	ENSP00000269081:D681N	ENSP00000269081:D681N	D	-	1	0	ABCA10	64698184	0.000000	0.05858	0.002000	0.10522	0.970000	0.65996	-4.258000	0.00264	0.131000	0.18576	0.563000	0.77884	GAC	ABCA10	-	NULL	ENSG00000154263		0.308	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	103	0.00	0	C	NM_080282		67186589	67186589	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	88	12.00	12	SNP	0.001	T
ABCA10	10349	genome.wustl.edu	37	17	67189676	67189676	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:67189676C>G	ENST00000269081.4	-	15	2508	c.1599G>C	c.(1597-1599)aaG>aaC	p.K533N	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	533	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAGTTTTCTCTTCTGCCCAC	0.299																																						dbGAP											0													84.0	85.0	85.0					17																	67189676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1599G>C	17.37:g.67189676C>G	ENSP00000269081:p.Lys533Asn		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K533N	ENST00000269081.4	37	c.1599	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511481	0.44660	.	.	ENSG00000154263	ENST00000269081	D	0.94862	-3.54	3.96	-1.3	0.09259	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.35124	U	0.003427	D	0.96880	0.8981	H	0.94423	3.535	0.80722	D	1	D;P	0.60575	0.988;0.761	D;P	0.64237	0.923;0.896	D	0.95009	0.8150	10	0.59425	D	0.04	.	8.3072	0.32049	0.0:0.4172:0.0:0.5828	.	533;533	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	N	533	ENSP00000269081:K533N	ENSP00000269081:K533N	K	-	3	2	ABCA10	64701271	0.055000	0.20627	0.902000	0.35471	0.615000	0.37417	-0.802000	0.04545	-0.052000	0.13311	0.557000	0.71058	AAG	ABCA10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154263		0.299	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	131	0.00	0	C	NM_080282		67189676	67189676	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	95	26.72	35	SNP	0.997	G
ABCA13	154664	genome.wustl.edu	37	7	48237925	48237925	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:48237925C>T	ENST00000435803.1	+	3	279	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	85					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTAGGAACTTCAGCTATGAAG	0.413																																						dbGAP											0													89.0	80.0	83.0					7																	48237925		1853	4104	5957	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.255C>T	7.37:g.48237925C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F85	ENST00000435803.1	37	c.255	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.413	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	77	0.00	0	C	NM_152701		48237925	48237925	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	silent	50	10.53	6	SNP	0.024	T
ABCA6	23460	genome.wustl.edu	37	17	67083529	67083529	+	Missense_Mutation	SNP	T	T	G	rs74542273		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:67083529T>G	ENST00000284425.2	-	29	3958	c.3784A>C	c.(3784-3786)Aca>Cca	p.T1262P	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1262					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAGTGGCTGTTCTTATTCTT	0.378																																						dbGAP											0													215.0	205.0	209.0					17																	67083529		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3784A>C	17.37:g.67083529T>G	ENSP00000284425:p.Thr1262Pro		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1262P	ENST00000284425.2	37	c.3784	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339944	0.60963	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86432	-2.12	4.95	1.51	0.23008	.	0.128600	0.34531	N	0.003900	D	0.90813	0.7115	M	0.79475	2.455	0.80722	D	1	D	0.56287	0.975	P	0.62649	0.905	D	0.88687	0.3206	10	0.72032	D	0.01	.	8.1271	0.31005	0.0:0.4239:0.0:0.5761	.	1262	Q8N139	ABCA6_HUMAN	P	1262;122	ENSP00000284425:T1262P	ENSP00000284425:T1262P	T	-	1	0	ABCA6	64595124	0.693000	0.27728	0.893000	0.35052	0.973000	0.67179	0.742000	0.26216	0.130000	0.18549	0.533000	0.62120	ACA	ABCA6	-	NULL	ENSG00000154262		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	273	0.00	0	T	NM_080284		67083529	67083529	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	missense	197	14.29	33	SNP	0.985	G
ABCA5	23461	genome.wustl.edu	37	17	67293342	67293342	+	Missense_Mutation	SNP	C	C	T	rs201017773		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:67293342C>T	ENST00000392676.3	-	10	1490	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	ABCA5_ENST00000392677.2_Missense_Mutation_p.E476K|ABCA5_ENST00000588877.1_Missense_Mutation_p.E476K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	476					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTTATGGCTTCTTTTCCTACA	0.299																																						dbGAP											0													58.0	63.0	61.0					17																	67293342		2202	4294	6496	-	-	-	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1426G>A	17.37:g.67293342C>T	ENSP00000376443:p.Glu476Lys		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E476K	ENST00000392676.3	37	c.1426	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.663404	0.96745	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88509	-2.38;-2.39	5.34	5.34	0.76211	.	0.187063	0.37219	N	0.002184	D	0.92909	0.7744	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91711	0.5381	9	.	.	.	.	19.407	0.94651	0.0:1.0:0.0:0.0	.	476;476	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	K	476	ENSP00000376444:E476K;ENSP00000376443:E476K	.	E	-	1	0	ABCA5	64804937	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.204000	0.77872	2.653000	0.90120	0.455000	0.32223	GAA	ABCA5	-	NULL	ENSG00000154265		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	74	0.00	0	C	NM_018672		67293342	67293342	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	53	20.90	14	SNP	1.000	T
ABCC12	94160	genome.wustl.edu	37	16	48174608	48174608	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:48174608G>C	ENST00000311303.3	-	4	992	c.647C>G	c.(646-648)tCt>tGt	p.S216C	ABCC12_ENST00000448542.1_Missense_Mutation_p.S216C|ABCC12_ENST00000416054.1_Missense_Mutation_p.S216C	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	216	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCGCCAACAGAGATGTGGGT	0.532																																						dbGAP											0													119.0	122.0	121.0					16																	48174608		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.647C>G	16.37:g.48174608G>C	ENSP00000311030:p.Ser216Cys		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S216C	ENST00000311303.3	37	c.647	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850597	0.51270	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.92752	-3.1;-3.1;-3.1	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.129084	0.53938	D	0.000050	D	0.95990	0.8694	M	0.82517	2.595	0.43622	D	0.996	D;D	0.89917	0.999;1.0	D;D	0.79108	0.981;0.992	D	0.96076	0.9050	10	0.87932	D	0	.	14.3611	0.66771	0.0:0.1483:0.8517:0.0	.	216;216	Q96J65-2;Q96J65	.;MRP9_HUMAN	C	216	ENSP00000311030:S216C;ENSP00000401855:S216C;ENSP00000413046:S216C	ENSP00000311030:S216C	S	-	2	0	ABCC12	46732109	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	5.286000	0.65639	2.783000	0.95769	0.655000	0.94253	TCT	ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	19	0.00	0	G	NM_033226		48174608	48174608	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.994	C
ABCG1	9619	genome.wustl.edu	37	21	43716451	43716451	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:43716451C>G	ENST00000361802.2	+	15	2131	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L	ABCG1_ENST00000398449.3_Silent_p.L650L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.L652L|ABCG1_ENST00000343687.3_Silent_p.L661L|ABCG1_ENST00000347800.2_Silent_p.L647L|ABCG1_ENST00000398437.1_Silent_p.L808L|ABCG1_ENST00000340588.4_Silent_p.L770L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	662	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCATCTCCCTCCGCCTCATTG	0.532																																						dbGAP											0													119.0	117.0	118.0					21																	43716451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1986C>G	21.37:g.43716451C>G			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.L808	ENST00000361802.2	37	c.2424	CCDS13682.1	21																																																																																			ABCG1	-	tigrfam_Pigment_permease	ENSG00000160179		0.532	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	76	0.00	0	C	NM_207174		43716451	43716451	+1	no_errors	ENST00000398437	ensembl	human	known	69_37n	silent	45	11.76	6	SNP	1.000	G
ABLIM1	3983	genome.wustl.edu	37	10	116225386	116225386	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:116225386C>T	ENST00000277895.5	-	12	1539				ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000533213.2_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AATGTGCTATCAATAGTAGGG	0.393																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1441+70G>A	10.37:g.116225386C>T			A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	RNA	SNP	-	NULL	ENST00000277895.5	37	NULL	CCDS7590.1	10																																																																																			ABLIM1	-	-	ENSG00000099204		0.393	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	41	0.00	0	C			116225386	116225386	-1	no_errors	ENST00000466400	ensembl	human	known	69_37n	rna	31	36.73	18	SNP	0.000	T
ACACA	31	genome.wustl.edu	37	17	35548174	35548174	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:35548174G>T	ENST00000394406.2	-	38	4538	c.4348C>A	c.(4348-4350)Ctc>Atc	p.L1450I	ACACA_ENST00000335166.5_Missense_Mutation_p.L1372I|ACACA_ENST00000360679.3_Missense_Mutation_p.L1392I|ACACA_ENST00000353139.5_Missense_Mutation_p.L1487I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1450					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCTTCCAGGAGTAGCCGCTCC	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													73.0	68.0	70.0					17																	35548174		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4348C>A	17.37:g.35548174G>T	ENSP00000377928:p.Leu1450Ile		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L1487I	ENST00000394406.2	37	c.4459	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447162	0.84101	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.08	5.08	0.68730	Acetyl-CoA carboxylase, central domain (1);	0.074183	0.56097	D	0.000037	T	0.72558	0.3475	L	0.54965	1.715	0.80722	D	1	D;D;D;P	0.89917	0.991;1.0;0.966;0.909	D;D;P;P	0.91635	0.919;0.999;0.838;0.646	T	0.71619	-0.4538	10	0.45353	T	0.12	-13.3501	18.2707	0.90068	0.0:0.0:1.0:0.0	.	198;1487;1450;1392	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	I	1487;1392;1450;1474;1372;198	ENSP00000344789:L1487I;ENSP00000353898:L1392I;ENSP00000377928:L1450I;ENSP00000335323:L1372I	ENSP00000335323:L1372I	L	-	1	0	ACACA	32622287	1.000000	0.71417	0.094000	0.20943	0.847000	0.48162	9.657000	0.98554	2.648000	0.89879	0.650000	0.86243	CTC	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	95	0.00	0	G	NM_198836		35548174	35548174	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	0.867	T
ACACB	32	genome.wustl.edu	37	12	109700261	109700261	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:109700261C>T	ENST00000338432.7	+	49	6893	c.6774C>T	c.(6772-6774)ctC>ctT	p.L2258L	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Silent_p.L2188L|ACACB_ENST00000377848.3_Silent_p.L2258L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2258	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACAAGAAGCTCATGGAACAGC	0.502																																						dbGAP											0													60.0	55.0	57.0					12																	109700261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6774C>T	12.37:g.109700261C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L2258	ENST00000338432.7	37	c.6774	CCDS31898.1	12																																																																																			ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000076555		0.502	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	42	0.00	0	C	NM_001093		109700261	109700261	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.000	T
ACAD11	84129	genome.wustl.edu	37	3	132345562	132345562	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:132345562C>T	ENST00000264990.6	-	9	2141	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	ACAD11_ENST00000481970.2_Missense_Mutation_p.M390I|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.M390I	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	390					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTGTTGTTTCATGAAATGCT	0.348																																						dbGAP											0													127.0	124.0	125.0					3																	132345562		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1170G>A	3.37:g.132345562C>T	ENSP00000264990:p.Met390Ile		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.M390I	ENST00000264990.6	37	c.1170	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656586	0.67586	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.99683	-6.39;-6.39;1.86	5.31	5.31	0.75309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.99363	0.9776	L	0.58354	1.805	0.80722	D	1	P;P	0.51240	0.589;0.943	B;P	0.52217	0.222;0.693	D	0.99338	1.0911	9	0.45353	T	0.12	.	18.9329	0.92574	0.0:1.0:0.0:0.0	.	390;390	D6RDI8;Q709F0	.;ACD11_HUMAN	I	390	ENSP00000347636:M390I;ENSP00000264990:M390I;ENSP00000420907:M390I	ENSP00000264990:M390I	M	-	3	0	ACAD11	133828252	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	4.905000	0.63286	2.641000	0.89580	0.655000	0.94253	ATG	ACAD11	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000240303		0.348	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	115	0.00	0	C	NM_032169		132345562	132345562	-1	no_errors	ENST00000264990	ensembl	human	known	69_37n	missense	89	22.61	26	SNP	1.000	T
ACE	1636	genome.wustl.edu	37	17	61570849	61570849	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:61570849G>C	ENST00000290866.4	+	20	2989	c.2965G>C	c.(2965-2967)Gaa>Caa	p.E989Q	ACE_ENST00000490216.2_Missense_Mutation_p.E415Q|ACE_ENST00000421982.2_Missense_Mutation_p.E235Q|ACE_ENST00000428043.1_Missense_Mutation_p.E989Q|ACE_ENST00000290863.6_Missense_Mutation_p.E415Q|ACE_ENST00000577647.1_Missense_Mutation_p.E415Q|ACE_ENST00000413513.3_Missense_Mutation_p.E415Q	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	989	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGCCCACCACGAAATGGGCCA	0.572																																						dbGAP											0													82.0	81.0	81.0					17																	61570849		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2965G>C	17.37:g.61570849G>C	ENSP00000290866:p.Glu989Gln		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.E989Q	ENST00000290866.4	37	c.2965	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216798	0.58452	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.79926	2.475	0.80722	D	1	P;D;P;D	0.89917	0.943;0.96;0.948;1.0	P;P;P;D	0.97110	0.725;0.82;0.758;1.0	T	0.77048	-0.2732	10	0.51188	T	0.08	-19.5681	18.9071	0.92467	0.0:0.0:1.0:0.0	.	235;415;415;989	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	Q	989;989;415;415;235	ENSP00000290866:E989Q;ENSP00000397593:E989Q;ENSP00000290863:E415Q;ENSP00000392247:E415Q;ENSP00000387760:E235Q	ENSP00000290863:E415Q	E	+	1	0	ACE	58924581	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	9.806000	0.99153	2.451000	0.82905	0.511000	0.50034	GAA	ACE	-	pfam_Peptidase_M2,prints_Peptidase_M2	ENSG00000159640		0.572	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	46	0.00	0	G			61570849	61570849	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	C
PXYLP1	92370	genome.wustl.edu	37	3	140997221	140997221	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:140997221G>C	ENST00000286353.4	+	3	254	c.117G>C	c.(115-117)atG>atC	p.M39I	ACPL2_ENST00000502783.1_Start_Codon_SNP_p.M1I|ACPL2_ENST00000393007.1_Missense_Mutation_p.M23I|ACPL2_ENST00000393010.2_Missense_Mutation_p.M39I|ACPL2_ENST00000504264.1_Missense_Mutation_p.M22I|ACPL2_ENST00000508812.1_Missense_Mutation_p.M30I|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		39						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGAATGGAATGAGTAGCAAGA	0.562																																						dbGAP											0													97.0	89.0	92.0					3																	140997221		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000286353.4:c.117G>C	3.37:g.140997221G>C	ENSP00000286353:p.Met39Ile		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.M39I	ENST00000286353.4	37	c.117	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	G	9.942	1.217632	0.22373	.	.	ENSG00000155893	ENST00000505013;ENST00000286353;ENST00000502783;ENST00000393010;ENST00000514680;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	T;T;T;T;T;T	0.16073	2.43;2.37;2.43;2.43;2.43;2.43	5.89	0.811	0.18739	.	1.101020	0.06719	N	0.774497	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39440	-0.9614	10	0.08837	T	0.75	.	2.815	0.05453	0.1916:0.1279:0.5492:0.1313	.	22;39	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	I	39;39;1;39;39;1;22;30;23	ENSP00000286353:M39I;ENSP00000422558:M1I;ENSP00000376733:M39I;ENSP00000426877:M22I;ENSP00000422901:M30I;ENSP00000376731:M23I	ENSP00000286353:M39I	M	+	3	0	ACPL2	142479911	0.003000	0.15002	0.009000	0.14445	0.441000	0.31987	0.428000	0.21395	-0.128000	0.11641	0.655000	0.94253	ATG	ACPL2	-	NULL	ENSG00000155893		0.562	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	53	0.00	0	G			140997221	140997221	+1	no_errors	ENST00000286353	ensembl	human	known	69_37n	missense	25	29.73	11	SNP	0.012	C
PXYLP1	92370	genome.wustl.edu	37	3	141011696	141011696	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:141011696C>T	ENST00000286353.4	+	6	1229	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	ACPL2_ENST00000502783.1_Silent_p.T326T|ACPL2_ENST00000393007.1_Silent_p.T348T|ACPL2_ENST00000393010.2_Silent_p.T364T|ACPL2_ENST00000504264.1_Silent_p.T347T|ACPL2_ENST00000508812.1_Silent_p.T355T|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		364						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCGTGCCACCGAGGGCAGGA	0.542																																						dbGAP											0													149.0	113.0	125.0					3																	141011696		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000286353.4:c.1092C>T	3.37:g.141011696C>T			D3DNF5|Q49AJ2|W0TR04	Silent	SNP	pfam_His_Pase_superF_clade-2	p.T364	ENST00000286353.4	37	c.1092	CCDS3116.1	3																																																																																			ACPL2	-	pfam_His_Pase_superF_clade-2	ENSG00000155893		0.542	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	29	0.00	0	C			141011696	141011696	+1	no_errors	ENST00000286353	ensembl	human	known	69_37n	silent	22	15.38	4	SNP	0.017	T
ACSF3	197322	genome.wustl.edu	37	16	89212355	89212355	+	Missense_Mutation	SNP	T	T	G	rs76528704		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:89212355T>G	ENST00000317447.4	+	10	1888	c.1511T>G	c.(1510-1512)gTg>gGg	p.V504G	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Missense_Mutation_p.V239G|ACSF3_ENST00000406948.3_Missense_Mutation_p.V504G	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	504					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GATGTGGCTGTGATTGGAGTT	0.572																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1511T>G	16.37:g.89212355T>G	ENSP00000320646:p.Val504Gly		A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V504G	ENST00000317447.4	37	c.1511	CCDS10974.1	16	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763978	0.69878	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345	T;T;T	0.70631	-0.5;-0.5;-0.5	4.99	4.99	0.66335	AMP-dependent synthetase/ligase (1);	0.145439	0.44902	D	0.000414	D	0.90376	0.6988	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94015	0.7287	10	0.87932	D	0	-25.6412	14.3398	0.66617	0.0:0.0:0.0:1.0	.	504	Q4G176	ACSF3_HUMAN	G	504;504;239	ENSP00000320646:V504G;ENSP00000384627:V504G;ENSP00000367596:V239G	ENSP00000320646:V504G	V	+	2	0	ACSF3	87739856	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	6.617000	0.74210	1.865000	0.54081	0.383000	0.25322	GTG	ACSF3	-	pfam_AMP-dep_Synth/Lig	ENSG00000176715		0.572	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	83	0.00	0	T	NM_174917		89212355	89212355	+1	no_errors	ENST00000317447	ensembl	human	known	69_37n	missense	36	17.78	8	SNP	1.000	G
ACSL4	2182	genome.wustl.edu	37	X	108924259	108924259	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:108924259G>A	ENST00000469796.2	-	6	1142	c.746C>T	c.(745-747)tCa>tTa	p.S249L	ACSL4_ENST00000340800.2_Missense_Mutation_p.S249L|ACSL4_ENST00000348502.6_Missense_Mutation_p.S208L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	249					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTCTTCTACTGATTGCATGCT	0.333																																					Pancreas(188;358 2127 38547 41466 45492)	dbGAP											0													137.0	122.0	127.0					X																	108924259		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.746C>T	X.37:g.108924259G>A	ENSP00000419171:p.Ser249Leu		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S249L	ENST00000469796.2	37	c.746	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119024	0.56505	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.11495	2.77;2.77;2.77	5.95	5.95	0.96441	AMP-dependent synthetase/ligase (1);	0.430804	0.25238	N	0.032115	T	0.14743	0.0356	L	0.43152	1.355	0.42398	D	0.992556	B	0.19445	0.036	B	0.25759	0.063	T	0.02909	-1.1095	10	0.52906	T	0.07	-11.2175	19.2627	0.93974	0.0:0.0:1.0:0.0	.	249	O60488	ACSL4_HUMAN	L	208;249;249	ENSP00000262835:S208L;ENSP00000419171:S249L;ENSP00000339787:S249L	ENSP00000339787:S249L	S	-	2	0	ACSL4	108810915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.245000	0.65405	2.501000	0.84356	0.513000	0.50165	TCA	ACSL4	-	pfam_AMP-dep_Synth/Lig	ENSG00000068366		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	114	0.00	0	G	NM_004458		108924259	108924259	-1	no_errors	ENST00000340800	ensembl	human	known	69_37n	missense	56	32.94	28	SNP	1.000	A
ACVR1C	130399	genome.wustl.edu	37	2	158412650	158412650	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:158412650G>A	ENST00000243349.8	-	3	859	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Silent_p.L117L|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AGATCTTTCAGAGTTTTTCCA	0.403																																						dbGAP											0													85.0	81.0	82.0					2																	158412650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.499C>T	2.37:g.158412650G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L167	ENST00000243349.8	37	c.499	CCDS2205.1	2																																																																																			ACVR1C	-	pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS	ENSG00000123612		0.403	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	125	0.00	0	G	NM_145259		158412650	158412650	-1	no_errors	ENST00000243349	ensembl	human	known	69_37n	silent	74	30.19	32	SNP	0.957	A
ADAM19	8728	genome.wustl.edu	37	5	156997987	156997987	+	Splice_Site	SNP	T	T	C	rs200503236	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:156997987T>C	ENST00000517905.1	-	2	140	c.96A>G	c.(94-96)agA>agG	p.R32R	ADAM19_ENST00000394020.1_Splice_Site_p.R34R|ADAM19_ENST00000430702.2_5'UTR|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000257527.4_Splice_Site_p.R32R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	32				R -> SK (in Ref. 1; AAG50282). {ECO:0000305}.	heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCACTTCCTCCTGCCAATA	0.498																																						dbGAP											0													78.0	78.0	78.0					5																	156997987		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.95-1A>G	5.37:g.156997987T>C			Q9BZL5|Q9UHP2	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R34	ENST00000517905.1	37	c.102		5																																																																																			ADAM19	-	NULL	ENSG00000135074		0.498	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	72	0.00	0	T	NM_033274	Silent	156997987	156997987	-1	no_errors	ENST00000394020	ensembl	human	known	69_37n	silent	51	27.14	19	SNP	1.000	C
ADAMTSL1	92949	genome.wustl.edu	37	9	18622283	18622283	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:18622283G>A	ENST00000380548.4	+	5	856	c.517G>A	c.(517-519)Gat>Aat	p.D173N	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D173N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D173N|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D173N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D173N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	173						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGTCAAGGAAGATAACTGTGG	0.507																																						dbGAP											0													112.0	101.0	105.0					9																	18622283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.517G>A	9.37:g.18622283G>A	ENSP00000369921:p.Asp173Asn		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.D173N	ENST00000380548.4	37	c.517	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.890464	0.97074	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.63	5.63	0.86233	.	.	.	.	.	D	0.91985	0.7461	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.93416	0.6773	9	0.87932	D	0	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	173;173	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	N	173	ENSP00000369921:D173N;ENSP00000327887:D173N;ENSP00000369944:D173N;ENSP00000369940:D173N;ENSP00000276935:D173N	ENSP00000276935:D173N	D	+	1	0	ADAMTSL1	18612283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.710000	0.98732	2.814000	0.96858	0.655000	0.94253	GAT	ADAMTSL1	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000178031		0.507	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	70	0.00	0	G			18622283	18622283	+1	no_errors	ENST00000327883	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	1.000	A
ADAMTS13	11093	genome.wustl.edu	37	9	136305542	136305542	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:136305542G>C	ENST00000371929.3	+	16	2308	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E591Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E622Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E294Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	622	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCCCTCCTGGAGGATGGTCG	0.632																																						dbGAP											0													104.0	76.0	85.0					9																	136305542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1864G>C	9.37:g.136305542G>C	ENSP00000360997:p.Glu622Gln		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E622Q	ENST00000371929.3	37	c.1864	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273901	0.80580	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.69040	-0.35;-0.37;-0.34;0.12	5.12	5.12	0.69794	.	.	.	.	.	T	0.81777	0.4894	M	0.82923	2.615	0.45690	D	0.9986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.981;0.992;0.986;0.979	T	0.79448	-0.1799	9	0.18710	T	0.47	.	17.1153	0.86687	0.0:0.0:1.0:0.0	.	622;591;622;294	Q76LX8;Q76LX8-3;Q76LX8-2;Q9UGQ1	ATS13_HUMAN;.;.;.	Q	622;622;591;294	ENSP00000360997:E622Q;ENSP00000347927:E622Q;ENSP00000348997:E591Q;ENSP00000444504:E294Q	ENSP00000347927:E622Q	E	+	1	0	ADAMTS13	135295363	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	7.875000	0.87205	2.377000	0.81083	0.491000	0.48974	GAG	ADAMTS13	-	NULL	ENSG00000160323		0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	42	0.00	0	G	NM_139025		136305542	136305542	+1	no_errors	ENST00000371929	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	1.000	C
ADAMTSL3	57188	genome.wustl.edu	37	15	84539660	84539660	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:84539660G>A	ENST00000286744.5	+	9	1133	c.909G>A	c.(907-909)gaG>gaA	p.E303E	ADAMTSL3_ENST00000567476.1_Silent_p.E303E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	303						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGGCTCCGAGAGGCAAACTT	0.438																																						dbGAP											0													75.0	82.0	80.0					15																	84539660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.909G>A	15.37:g.84539660G>A			A1A566|A1A567|Q9ULI7	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E303	ENST00000286744.5	37	c.909	CCDS10326.1	15																																																																																			ADAMTSL3	-	NULL	ENSG00000156218		0.438	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	58	0.00	0	G	NM_207517		84539660	84539660	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	silent	34	23.91	11	SNP	0.976	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84539697	84539697	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:84539697G>C	ENST00000286744.5	+	9	1170	c.946G>C	c.(946-948)Gat>Cat	p.D316H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D316H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	316						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGATGGCTGATTTCATCTT	0.418																																						dbGAP											0													74.0	81.0	79.0					15																	84539697		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.946G>C	15.37:g.84539697G>C	ENSP00000286744:p.Asp316His		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.D316H	ENST00000286744.5	37	c.946	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716653	0.68844	.	.	ENSG00000156218	ENST00000286744	T	0.68181	-0.31	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.88704	2.975	0.50467	D	0.999873	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.88097	0.2817	10	0.87932	D	0	.	16.6294	0.85029	0.0:0.0:1.0:0.0	.	316;316	P82987-2;P82987	.;ATL3_HUMAN	H	316	ENSP00000286744:D316H	ENSP00000286744:D316H	D	+	1	0	ADAMTSL3	82330701	1.000000	0.71417	0.984000	0.44739	0.969000	0.65631	6.751000	0.74893	2.189000	0.69895	0.462000	0.41574	GAT	ADAMTSL3	-	NULL	ENSG00000156218		0.418	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	51	0.00	0	G	NM_207517		84539697	84539697	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	1.000	C
ADCK3	56997	genome.wustl.edu	37	1	227152807	227152807	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:227152807C>T	ENST00000366779.1	+	8	3055	c.284C>T	c.(283-285)tCa>tTa	p.S95L	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.S95L|ADCK3_ENST00000366778.1_Missense_Mutation_p.S43L			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	95					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GACTTCTCTTCAGCCTCCGCT	0.602																																						dbGAP											0													39.0	44.0	42.0					1																	227152807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.284C>T	1.37:g.227152807C>T	ENSP00000355741:p.Ser95Leu		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.S95L	ENST00000366779.1	37	c.284	CCDS1557.1	1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057302	0.36277	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000405743	T;T;T	0.72505	-0.65;-0.66;-0.65	4.28	-5.04	0.02964	.	1.713730	0.02698	N	0.111465	T	0.48466	0.1501	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23440	-1.0188	10	0.29301	T	0.29	-3.7482	4.5288	0.11995	0.2526:0.2725:0.0:0.4749	.	95	Q8NI60	ADCK3_HUMAN	L	95;43;95;46	ENSP00000355741:S95L;ENSP00000355740:S43L;ENSP00000355739:S95L	ENSP00000355739:S95L	S	+	2	0	ADCK3	225219430	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.346000	0.07760	-1.108000	0.03000	0.655000	0.94253	TCA	ADCK3	-	NULL	ENSG00000163050		0.602	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	26	0.00	0	C	NM_020247		227152807	227152807	+1	no_errors	ENST00000366777	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.000	T
ADCY1	107	genome.wustl.edu	37	7	45701780	45701780	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:45701780C>T	ENST00000297323.7	+	8	1594	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	ADCY1_ENST00000432715.1_Silent_p.F299F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	524					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGATCCCCTTCTCCAATGTCA	0.552																																						dbGAP											0													72.0	59.0	63.0					7																	45701780		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1572C>T	7.37:g.45701780C>T			A4D2L8|Q75MI1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F524	ENST00000297323.7	37	c.1572	CCDS34631.1	7																																																																																			ADCY1	-	NULL	ENSG00000164742		0.552	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	46	0.00	0	C	NM_021116		45701780	45701780	+1	no_errors	ENST00000297323	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	1.000	T
ADD2	119	genome.wustl.edu	37	2	70917942	70917942	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:70917942C>A	ENST00000264436.4	-	8	1269	c.825G>T	c.(823-825)caG>caT	p.Q275H	ADD2_ENST00000407644.2_Missense_Mutation_p.Q275H|ADD2_ENST00000430656.1_Missense_Mutation_p.Q291H|ADD2_ENST00000413157.2_Missense_Mutation_p.Q275H|ADD2_ENST00000355733.3_Missense_Mutation_p.Q275H|AC007395.3_ENST00000457851.1_RNA	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	275					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAAGGCACTTCTGCAGGTTGA	0.507																																						dbGAP											0													104.0	94.0	97.0					2																	70917942		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.825G>T	2.37:g.70917942C>A	ENSP00000264436:p.Gln275His		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Q275H	ENST00000264436.4	37	c.825	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021437	0.93462	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.85130	0.997;0.973;0.976;0.996	T	0.63220	-0.6686	10	0.87932	D	0	-29.3148	16.7875	0.85577	0.0:1.0:0.0:0.0	.	291;275;275;275	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	H	275;275;275;275;275;275;291	ENSP00000264436:Q275H;ENSP00000384677:Q275H;ENSP00000347972:Q275H;ENSP00000388072:Q275H;ENSP00000398112:Q291H	ENSP00000264436:Q275H	Q	-	3	2	ADD2	70771450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.745000	0.62125	2.823000	0.97156	0.650000	0.86243	CAG	ADD2	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000075340		0.507	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	56	0.00	0	C	NM_001617		70917942	70917942	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	1.000	A
ADGB	79747	genome.wustl.edu	37	6	147022141	147022141	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:147022141G>A	ENST00000397944.3	+	13	1718	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	ADGB_ENST00000367493.3_5'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	548					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						TTCCGTCAGTGAAACTGATGA	0.393																																						dbGAP											0													195.0	171.0	178.0					6																	147022141		692	1591	2283	-	-	-	SO:0001583	missense	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.1642G>A	6.37:g.147022141G>A	ENSP00000381036:p.Glu548Lys		Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.E548K	ENST00000397944.3	37	c.1642		6	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443549	0.43429	.	.	ENSG00000118492	ENST00000397944	T	0.34859	1.34	4.21	4.21	0.49690	Peptidase C2, calpain, catalytic domain (1);	0.696095	0.14275	N	0.329888	T	0.22975	0.0555	L	0.60455	1.87	0.35166	D	0.771097	B	0.29627	0.252	B	0.21708	0.036	T	0.21552	-1.0242	10	0.87932	D	0	-34.3497	14.3904	0.66975	0.0:0.0:1.0:0.0	.	548	Q8N7X0	CAN7L_HUMAN	K	548	ENSP00000381036:E548K	ENSP00000381036:E548K	E	+	1	0	C6orf103	147063834	1.000000	0.71417	0.206000	0.23566	0.082000	0.17680	4.762000	0.62250	2.642000	0.89623	0.591000	0.81541	GAA	ADGB	-	smart_Peptidase_C2_calpain_cat	ENSG00000118492		0.393	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	114	0.00	0	G	NM_024694		147022141	147022141	+1	no_errors	ENST00000397944	ensembl	human	known	69_37n	missense	91	22.22	26	SNP	0.657	A
ADIPOR2	79602	genome.wustl.edu	37	12	1890221	1890221	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:1890221C>A	ENST00000357103.4	+	6	1068	c.817C>A	c.(817-819)Cag>Aag	p.Q273K		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	273					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TGCCACCCCTCAGTATCGGGG	0.428																																						dbGAP											0													119.0	114.0	115.0					12																	1890221		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.817C>A	12.37:g.1890221C>A	ENSP00000349616:p.Gln273Lys		Q53YY5|Q9H737	Missense_Mutation	SNP	pfam_HlyIII-related	p.Q273K	ENST00000357103.4	37	c.817	CCDS8511.1	12	.	.	.	.	.	.	.	.	.	.	C	7.327	0.618163	0.14129	.	.	ENSG00000006831	ENST00000357103	T	0.27720	1.65	5.65	4.74	0.60224	.	0.049304	0.85682	D	0.000000	T	0.11965	0.0291	N	0.02158	-0.66	0.58432	D	0.999995	B	0.06786	0.001	B	0.11329	0.006	T	0.17806	-1.0357	10	0.02654	T	1	-8.7991	16.0885	0.81076	0.0:0.7478:0.2521:0.0	.	273	Q86V24	ADR2_HUMAN	K	273	ENSP00000349616:Q273K	ENSP00000349616:Q273K	Q	+	1	0	ADIPOR2	1760482	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	2.163000	0.42377	1.350000	0.45770	0.555000	0.69702	CAG	ADIPOR2	-	pfam_HlyIII-related	ENSG00000006831		0.428	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR2	HGNC	protein_coding	OTTHUMT00000252447.2	113	0.00	0	C	NM_024551		1890221	1890221	+1	no_errors	ENST00000357103	ensembl	human	known	69_37n	missense	98	25.76	34	SNP	1.000	A
ADORA1	134	genome.wustl.edu	37	1	203134784	203134784	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:203134784G>C	ENST00000367236.4	+	3	1658	c.737G>C	c.(736-738)aGc>aCc	p.S246T	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.S246T|ADORA1_ENST00000337894.4_Missense_Mutation_p.S246T|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	246					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TTTGCCCTCAGCTGGCTGCCT	0.587																																						dbGAP											0													257.0	180.0	206.0					1																	203134784		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.737G>C	1.37:g.203134784G>C	ENSP00000356205:p.Ser246Thr		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adenosn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.S246T	ENST00000367236.4	37	c.737	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856497	0.32791	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.37752	1.18;1.18;1.18	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.073501	0.85682	D	0.000000	T	0.42245	0.1194	M	0.69185	2.1	0.80722	D	1	B;B;B	0.33807	0.085;0.426;0.036	B;B;B	0.32724	0.094;0.151;0.108	T	0.42632	-0.9440	10	0.62326	D	0.03	-44.3306	19.4035	0.94640	0.0:0.0:1.0:0.0	.	279;178;246	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	T	246	ENSP00000308549:S246T;ENSP00000356205:S246T;ENSP00000338435:S246T	ENSP00000308549:S246T	S	+	2	0	ADORA1	201401407	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.005000	0.88553	2.586000	0.87340	0.561000	0.74099	AGC	ADORA1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000163485		0.587	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	102	0.00	0	G	NM_000674		203134784	203134784	+1	no_errors	ENST00000309502	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	C
ADSS	159	genome.wustl.edu	37	1	244586160	244586160	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:244586160C>G	ENST00000366535.3	-	7	956	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			AATTCACCTTCAATGTCTATT	0.328																																						dbGAP											0													150.0	146.0	148.0					1																	244586160		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.640G>C	1.37:g.244586160C>G	ENSP00000355493:p.Glu214Gln			Missense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.E214Q	ENST00000366535.3	37	c.640	CCDS1624.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777121	0.90195	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.46451	0.87	5.84	5.84	0.93424	.	0.113754	0.64402	D	0.000002	T	0.46444	0.1393	L	0.52011	1.625	0.80722	D	1	P	0.44659	0.84	B	0.43082	0.407	T	0.44174	-0.9345	10	0.59425	D	0.04	-23.8321	20.1336	0.98010	0.0:1.0:0.0:0.0	.	214	P30520	PURA2_HUMAN	Q	214;193	ENSP00000355493:E214Q	ENSP00000355493:E214Q	E	-	1	0	ADSS	242652783	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.987000	0.70571	2.767000	0.95098	0.591000	0.81541	GAA	ADSS	-	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	ENSG00000035687		0.328	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	HGNC	protein_coding	OTTHUMT00000096697.1	182	0.00	0	C	NM_001126		244586160	244586160	-1	no_errors	ENST00000366535	ensembl	human	known	69_37n	missense	176	20.00	44	SNP	1.000	G
AFAP1L2	84632	genome.wustl.edu	37	10	116055702	116055702	+	3'UTR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:116055702C>G	ENST00000304129.4	-	0	2585				AFAP1L2_ENST00000369271.3_3'UTR|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_3'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2						inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCTTTTTCTTCTAAACAGACT	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.*99G>C	10.37:g.116055702C>G			A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	RNA	SNP	-	NULL	ENST00000304129.4	37	NULL	CCDS31286.1	10																																																																																			AFAP1L2	-	-	ENSG00000169129		0.408	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	49	0.00	0	C	NM_032550		116055702	116055702	-1	no_errors	ENST00000491814	ensembl	human	known	69_37n	rna	54	10.00	6	SNP	0.667	G
AGBL4	84871	genome.wustl.edu	37	1	49711501	49711501	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:49711501G>A	ENST00000371839.1	-	4	434	c.318C>T	c.(316-318)acC>acT	p.T106T	AGBL4_ENST00000371838.1_Silent_p.T106T|AGBL4_ENST00000371836.1_Silent_p.T106T	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	106					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGAGACTCTTGGTTTTACTGA	0.388																																						dbGAP											0													144.0	118.0	126.0					1																	49711501		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.318C>T	1.37:g.49711501G>A			B3KT26|B4DG37	Silent	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.T106	ENST00000371839.1	37	c.318	CCDS44137.1	1																																																																																			AGBL4	-	NULL	ENSG00000186094		0.388	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	97	0.00	0	G	NM_032785		49711501	49711501	-1	no_errors	ENST00000371839	ensembl	human	known	69_37n	silent	73	22.92	22	SNP	1.000	A
AHCYL2	23382	genome.wustl.edu	37	7	129064919	129064919	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:129064919G>C	ENST00000325006.3	+	15	1699	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	AHCYL2_ENST00000446544.2_Missense_Mutation_p.E548Q|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E447Q|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E446Q|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E446Q|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E468Q	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	549					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGCCTTGATAGAGCTTTACAA	0.473																																					Pancreas(160;1736 1964 29875 40941 45605)	dbGAP											0													178.0	160.0	166.0					7																	129064919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1645G>C	7.37:g.129064919G>C	ENSP00000315931:p.Glu549Gln		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.E549Q	ENST00000325006.3	37	c.1645	CCDS5812.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.951611|4.951611	0.92660|0.92660	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.79749|.	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86368|.	0.5916|.	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.995;0.995;0.999;0.995;0.999|.	D;D;D;D;D|.	0.71414|.	0.934;0.934;0.973;0.934;0.955|.	D|.	0.89488|.	0.3755|.	10|.	0.87932|.	D|.	0|.	-24.3247|-24.3247	17.8694|17.8694	0.88807|0.88807	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	446;447;549;446;548|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	Q|Y	549;548;468;446;447;446|455	ENSP00000315931:E549Q;ENSP00000413639:E548Q;ENSP00000431787:E468Q;ENSP00000420459:E446Q;ENSP00000405267:E447Q;ENSP00000420801:E446Q|.	ENSP00000315931:E549Q|.	E|X	+|+	1|3	0|2	AHCYL2|AHCYL2	128852155|128852155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.841000|9.841000	0.99482|0.99482	2.565000|2.565000	0.86533|0.86533	0.650000|0.650000	0.86243|0.86243	GAG|TAG	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000158467		0.473	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	70	0.00	0	G			129064919	129064919	+1	no_errors	ENST00000325006	ensembl	human	known	69_37n	missense	68	21.84	19	SNP	1.000	C
AKAP10	11216	genome.wustl.edu	37	17	19843048	19843048	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:19843048C>T	ENST00000225737.6	-	8	1457	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D434N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	434	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATCATGGCATCATTCTGTGCC	0.368																																						dbGAP											0													113.0	110.0	111.0					17																	19843048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1300G>A	17.37:g.19843048C>T	ENSP00000225737:p.Asp434Asn		B2R650|Q96AJ7	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.D434N	ENST00000225737.6	37	c.1300	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020249	0.93462	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.01902	4.57	5.7	4.73	0.59995	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	M	0.82323	2.585	0.58432	D	0.999999	P;D;D	0.89917	0.865;1.0;1.0	P;D;D	0.97110	0.57;1.0;1.0	T	0.00431	-1.1743	10	0.66056	D	0.02	-11.9726	13.9667	0.64213	0.0:0.9272:0.0:0.0728	.	434;434;434	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	N	434	ENSP00000225737:D434N	ENSP00000225737:D434N	D	-	1	0	AKAP10	19783640	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.416000	0.80143	1.421000	0.47157	0.563000	0.77884	GAT	AKAP10	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000108599		0.368	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2	78	0.00	0	C	NM_007202		19843048	19843048	-1	no_errors	ENST00000225737	ensembl	human	known	69_37n	missense	115	15.44	21	SNP	1.000	T
AKAP12	9590	genome.wustl.edu	37	6	151670262	151670262	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:151670262G>A	ENST00000253332.1	+	3	925	c.736G>A	c.(736-738)Gag>Aag	p.E246K	AKAP12_ENST00000402676.2_Missense_Mutation_p.E246K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E148K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E141K|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	246					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCTGAAGCGTGAGCAAAGCCA	0.517																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													59.0	66.0	64.0					6																	151670262		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.736G>A	6.37:g.151670262G>A	ENSP00000253332:p.Glu246Lys		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.E246K	ENST00000253332.1	37	c.736	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862260	0.51482	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.09163	3.01;3.01;3.03;3.03	4.54	2.65	0.31530	.	0.182021	0.26742	N	0.022723	T	0.06188	0.0160	M	0.63428	1.95	0.09310	N	1	P;P;P	0.50156	0.872;0.932;0.798	P;P;B	0.48454	0.495;0.578;0.3	T	0.26608	-1.0098	10	0.15066	T	0.55	.	10.8218	0.46610	0.0:0.3727:0.6273:0.0	.	141;148;246	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	246;246;148;141	ENSP00000384537:E246K;ENSP00000253332:E246K;ENSP00000346702:E148K;ENSP00000352794:E141K	ENSP00000253332:E246K	E	+	1	0	AKAP12	151711955	0.405000	0.25336	0.018000	0.16275	0.027000	0.11550	3.214000	0.51161	0.762000	0.33152	0.650000	0.86243	GAG	AKAP12	-	NULL	ENSG00000131016		0.517	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	30	0.00	0	G			151670262	151670262	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.029	A
AKAP12	9590	genome.wustl.edu	37	6	151670277	151670277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:151670277G>T	ENST00000253332.1	+	3	940	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	AKAP12_ENST00000402676.2_Nonsense_Mutation_p.E251*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E153*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E146*|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	251					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCCACGCAGAAATTTCTCC	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0													51.0	58.0	56.0					6																	151670277		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.751G>T	6.37:g.151670277G>T	ENSP00000253332:p.Glu251*		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Nonsense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.E251*	ENST00000253332.1	37	c.751	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326952	0.60743	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	.	.	.	4.59	3.71	0.42584	.	0.487586	0.15701	N	0.248931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	13.8307	0.63380	0.0:0.1545:0.8455:0.0	.	.	.	.	X	251;251;153;146	.	ENSP00000253332:E251X	E	+	1	0	AKAP12	151711970	0.006000	0.16342	0.003000	0.11579	0.003000	0.03518	0.672000	0.25187	1.268000	0.44264	0.650000	0.86243	GAA	AKAP12	-	NULL	ENSG00000131016		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	26	0.00	0	G			151670277	151670277	+1	no_errors	ENST00000253332	ensembl	human	known	69_37n	nonsense	14	33.33	7	SNP	0.444	T
AKAP13	11214	genome.wustl.edu	37	15	86077099	86077099	+	Nonsense_Mutation	SNP	C	C	T	rs200017705		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:86077099C>T	ENST00000394518.2	+	4	561	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.Q156*|AKAP13_ENST00000560302.1_Nonsense_Mutation_p.Q156*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	156					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGGACAGATCAGAGTTTGCA	0.418																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													46.0	45.0	46.0					15																	86077099		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.466C>T	15.37:g.86077099C>T	ENSP00000378026:p.Gln156*		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q156*	ENST00000394518.2	37	c.466	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671774	0.88348	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	6.07	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.6891	0.45860	0.1311:0.5629:0.306:0.0	.	.	.	.	X	156;156;155;155	.	ENSP00000354718:Q156X	Q	+	1	0	AKAP13	83878103	0.136000	0.22515	0.817000	0.32601	0.993000	0.82548	1.223000	0.32527	0.866000	0.35629	0.655000	0.94253	CAG	AKAP13	-	NULL	ENSG00000170776		0.418	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	17	0.00	0	C	NM_007200		86077099	86077099	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	nonsense	14	33.33	7	SNP	0.029	T
AKAP13	11214	genome.wustl.edu	37	15	86207934	86207934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:86207934C>A	ENST00000394518.2	+	13	5035	c.4940C>A	c.(4939-4941)tCa>tAa	p.S1647*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1651*|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1647					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGTCACTTTCAGAAGAGGAT	0.408																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													102.0	93.0	96.0					15																	86207934		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4940C>A	15.37:g.86207934C>A	ENSP00000378026:p.Ser1647*		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S1651*	ENST00000394518.2	37	c.4952	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110591	0.56398	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	19.0647	0.93106	0.0:1.0:0.0:0.0	.	.	.	.	X	1651;1647;1650;1628;269	.	ENSP00000354718:S1651X	S	+	2	0	AKAP13	84008938	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	5.692000	0.68256	2.820000	0.97059	0.650000	0.86243	TCA	AKAP13	-	NULL	ENSG00000170776		0.408	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	52	0.00	0	C	NM_007200		86207934	86207934	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	nonsense	37	27.45	14	SNP	1.000	A
AKAP3	10566	genome.wustl.edu	37	12	4736759	4736759	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:4736759C>T	ENST00000545990.2	-	5	1833	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.E437K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	437					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATTTGGGTTCAGAATACATT	0.393																																						dbGAP											0													118.0	119.0	119.0					12																	4736759		2203	4300	6503	-	-	-	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1309G>A	12.37:g.4736759C>T	ENSP00000440994:p.Glu437Lys		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.E437K	ENST00000545990.2	37	c.1309	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.496042	0.00159	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.05855	3.38;3.38	5.77	-11.5	0.00074	A-kinase anchor 110kDa, C-terminal (1);	2.528410	0.01054	N	0.004535	T	0.01730	0.0055	N	0.03324	-0.35	0.09310	N	1	B	0.27791	0.189	B	0.25614	0.062	T	0.33471	-0.9867	10	0.02654	T	1	.	3.0105	0.06043	0.184:0.1063:0.3621:0.3476	.	437	O75969	AKAP3_HUMAN	K	437	ENSP00000228850:E437K;ENSP00000440994:E437K	ENSP00000228850:E437K	E	-	1	0	AKAP3	4607020	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.308000	0.00255	-3.772000	0.00109	-0.140000	0.14226	GAA	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.393	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	82	0.00	0	C	NM_006422		4736759	4736759	-1	no_errors	ENST00000228850	ensembl	human	known	69_37n	missense	66	29.03	27	SNP	0.000	T
AKR7L	246181	genome.wustl.edu	37	1	19595190	19595190	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:19595190C>T	ENST00000429712.1	-	0	829				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTGCTCCTTCCAGAAGCTGTT	0.647																																						dbGAP											0													77.0	68.0	71.0					1																	19595190		2203	4300	6503	-	-	-			0					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595190C>T			Q5U614	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.W59*	ENST00000429712.1	37	c.176		1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645015	0.87859	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	.	.	.	3.73	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5801	0.68282	0.0:1.0:0.0:0.0	.	.	.	.	X	59;127;237;202	.	ENSP00000373538:W202X	W	-	2	0	AKR7L	19467777	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.339000	0.65953	2.072000	0.62099	0.460000	0.39030	TGG	AKR7L	-	superfamily_NADP_OxRdtase_dom	ENSG00000211454		0.647	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	HGNC	polymorphic_pseudogene	OTTHUMT00000007163.3	36	0.00	0	C	NM_201252		19595190	19595190	-1	no_errors	ENST00000420396	ensembl	human	known	69_37n	nonsense	18	18.18	4	SNP	1.000	T
ALDH3A2	224	genome.wustl.edu	37	17	19576546	19576546	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:19576546G>A	ENST00000176643.6	+	9	1889				ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000581518.1_Silent_p.*509*|ALDH3A2_ENST00000339618.4_Silent_p.*509*			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2						cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					AAGCAGAGATGAACACCAGAT	0.433																																						dbGAP											0													130.0	131.0	131.0					17																	19576546		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1443+1277G>A	17.37:g.19576546G>A			Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	NULL	p.E75K	ENST00000176643.6	37	c.223	CCDS11210.1	17																																																																																			ALDH3A2	-	NULL	ENSG00000072210		0.433	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	61	0.00	0	G			19576546	19576546	+1	no_start_codon	ENST00000575384	ensembl	human	novel	69_37n	missense	33	41.07	23	SNP	0.691	A
ALG1	56052	genome.wustl.edu	37	16	5122995	5122995	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:5122995G>T	ENST00000262374.5	+	2	283	c.252G>T	c.(250-252)caG>caT	p.Q84H	ALG1_ENST00000544428.1_5'UTR|ALG1_ENST00000588623.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	84					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACAGAATTCAGATTGTGGGGT	0.463																																						dbGAP											0													122.0	124.0	123.0					16																	5122995		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.252G>T	16.37:g.5122995G>T	ENSP00000262374:p.Gln84His		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.Q84H	ENST00000262374.5	37	c.252	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	G	2.678	-0.276093	0.05679	.	.	ENSG00000033011	ENST00000262374	D	0.82526	-1.62	4.95	0.0559	0.14317	.	0.944597	0.08969	N	0.867474	T	0.63663	0.2530	N	0.13371	0.34	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54456	-0.8291	10	0.27785	T	0.31	-1.9032	1.4749	0.02424	0.193:0.1317:0.4318:0.2435	.	84	Q9BT22	ALG1_HUMAN	H	84	ENSP00000262374:Q84H	ENSP00000262374:Q84H	Q	+	3	2	ALG1	5062996	0.402000	0.25311	0.850000	0.33497	0.083000	0.17756	0.427000	0.21379	0.140000	0.18849	-0.367000	0.07326	CAG	ALG1	-	NULL	ENSG00000033011		0.463	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	95	0.00	0	G	NM_019109		5122995	5122995	+1	no_errors	ENST00000262374	ensembl	human	known	69_37n	missense	79	31.30	36	SNP	0.892	T
ALDOA	226	genome.wustl.edu	37	16	30080850	30080850	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:30080850G>A	ENST00000566897.1	+	10	1807	c.655G>A	c.(655-657)Gac>Aac	p.D219N	ALDOA_ENST00000395240.3_Missense_Mutation_p.D223N|ALDOA_ENST00000569798.1_Missense_Mutation_p.D219N|ALDOA_ENST00000395248.1_Missense_Mutation_p.D273N|ALDOA_ENST00000569545.1_Missense_Mutation_p.D219N|ALDOA_ENST00000338110.5_Missense_Mutation_p.D219N|ALDOA_ENST00000564546.1_Missense_Mutation_p.D219N|ALDOA_ENST00000564595.2_Missense_Mutation_p.D273N|ALDOA_ENST00000412304.2_Missense_Mutation_p.D219N|ALDOA_ENST00000563060.2_Missense_Mutation_p.D219N			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	219					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GGCTCTGAGTGACCACCACAT	0.597											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													92.0	89.0	90.0					16																	30080850		2197	4300	6497	-	-	-	SO:0001583	missense	0			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.655G>A	16.37:g.30080850G>A	ENSP00000455724:p.Asp219Asn	814	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.D219N	ENST00000566897.1	37	c.655	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.441393	0.96187	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.86865	-2.18;-2.18;-2.18	5.91	5.91	0.95273	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.91090	3.175	0.80722	D	1	B;D;B	0.67145	0.025;0.996;0.293	B;D;B	0.79108	0.042;0.992;0.233	D	0.95307	0.8408	10	0.66056	D	0.02	.	19.0678	0.93119	0.0:0.0:1.0:0.0	.	78;101;219	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	N	273;219;219;219	ENSP00000378669:D273N;ENSP00000336927:D219N;ENSP00000400452:D219N	ENSP00000336927:D219N	D	+	1	0	ALDOA	29988351	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.807000	0.99171	2.813000	0.96785	0.655000	0.94253	GAC	ALDOA	-	pfam_Aldolase_I	ENSG00000149925		0.597	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	61	0.00	0	G	NM_000034		30080850	30080850	+1	no_errors	ENST00000338110	ensembl	human	known	69_37n	missense	29	26.83	11	SNP	1.000	A
ALK	238	genome.wustl.edu	37	2	29519845	29519845	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:29519845C>G	ENST00000389048.3	-	9	2632	c.1726G>C	c.(1726-1728)Gag>Cag	p.E576Q	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	576	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGCCTTGCTCCTTCCCGGTT	0.567			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													171.0	132.0	145.0					2																	29519845		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1726G>C	2.37:g.29519845C>G	ENSP00000373700:p.Glu576Gln		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E576Q	ENST00000389048.3	37	c.1726	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379287	0.42207	.	.	ENSG00000171094	ENST00000389048	T	0.02140	4.43	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.46442	U	0.000283	T	0.03915	0.0110	L	0.32530	0.975	0.80722	D	1	P	0.40578	0.722	P	0.46144	0.505	T	0.63220	-0.6686	9	.	.	.	.	15.484	0.75551	0.0:1.0:0.0:0.0	.	576	Q9UM73	ALK_HUMAN	Q	576	ENSP00000373700:E576Q	.	E	-	1	0	ALK	29373349	1.000000	0.71417	0.928000	0.36995	0.044000	0.14063	4.697000	0.61782	2.421000	0.82119	0.563000	0.77884	GAG	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,pfscan_MAM_dom	ENSG00000171094		0.567	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	117	0.00	0	C	NM_004304		29519845	29519845	-1	no_errors	ENST00000389048	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	G
AMBN	258	genome.wustl.edu	37	4	71465264	71465264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:71465264C>A	ENST00000322937.6	+	5	298	c.195C>A	c.(193-195)taC>taA	p.Y65*	AMBN_ENST00000449493.2_Nonsense_Mutation_p.Y65*	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	65					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ATTCTAGATACGGCTTTGGAA	0.343																																						dbGAP											0													77.0	78.0	78.0					4																	71465264		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.195C>A	4.37:g.71465264C>A	ENSP00000313809:p.Tyr65*		Q3B862|Q9H2X1|Q9H4L1	Nonsense_Mutation	SNP	pfam_Amelin,smart_Amelin	p.Y65*	ENST00000322937.6	37	c.195	CCDS3543.1	4	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677275	0.68042	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	.	.	.	5.72	3.31	0.37934	.	0.257850	0.33040	N	0.005353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-4.1018	7.4388	0.27171	0.0:0.2441:0.0:0.7559	.	.	.	.	X	65	.	ENSP00000313809:Y65X	Y	+	3	2	AMBN	71499853	0.997000	0.39634	0.994000	0.49952	0.407000	0.30961	0.118000	0.15605	0.120000	0.18254	-0.332000	0.08345	TAC	AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.343	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	71	0.00	0	C	NM_016519		71465264	71465264	+1	no_errors	ENST00000322937	ensembl	human	known	69_37n	nonsense	45	26.23	16	SNP	0.998	A
AMZ2	51321	genome.wustl.edu	37	17	66246373	66246373	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:66246373C>T	ENST00000359904.3	+	2	1177	c.45C>T	c.(43-45)ctC>ctT	p.L15L	AMZ2_ENST00000577866.1_Silent_p.L15L|AMZ2_ENST00000580753.1_Silent_p.L15L|AMZ2_ENST00000577985.1_Silent_p.L15L|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Silent_p.L15L|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000392720.2_Silent_p.L15L|AMZ2_ENST00000359783.4_Silent_p.L15L	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	15				L -> V (in Ref. 2; AAF64270). {ECO:0000305}.			metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAACAGCTCTCATCTCAAAGA	0.373																																						dbGAP											0													105.0	106.0	106.0					17																	66246373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.45C>T	17.37:g.66246373C>T			A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Silent	SNP	pfam_Pept_M54_archaemetzincn	p.L15	ENST00000359904.3	37	c.45	CCDS11674.1	17																																																																																			AMZ2	-	NULL	ENSG00000196704		0.373	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	63	0.00	0	C	NM_016627		66246373	66246373	+1	no_errors	ENST00000359904	ensembl	human	known	69_37n	silent	71	11.11	9	SNP	1.000	T
ANK1	286	genome.wustl.edu	37	8	41530277	41530277	+	Missense_Mutation	SNP	G	G	C	rs368973931		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:41530277G>C	ENST00000347528.4	-	38	4774	c.4691C>G	c.(4690-4692)tCt>tGt	p.S1564C	ANK1_ENST00000265709.8_Missense_Mutation_p.S1605C|ANK1_ENST00000352337.4_Missense_Mutation_p.S1564C|ANK1_ENST00000289734.7_Missense_Mutation_p.S1564C|ANK1_ENST00000379758.2_Missense_Mutation_p.S1564C|ANK1_ENST00000396942.1_Missense_Mutation_p.S1564C|ANK1_ENST00000396945.1_Missense_Mutation_p.S1564C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1564	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGCATGTCAGACATCTCCAG	0.597																																						dbGAP											0													52.0	50.0	51.0					8																	41530277		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4691C>G	8.37:g.41530277G>C	ENSP00000339620:p.Ser1564Cys		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S1564C	ENST00000347528.4	37	c.4691	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198472	0.79015	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.70749	-0.49;-0.51;-0.47;-0.46;-0.48;-0.46;-0.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.996;1.0	D;D;D;D	0.91635	0.999;0.926;0.968;0.999	T	0.82910	-0.0223	10	0.66056	D	0.02	.	16.4381	0.83884	0.0:0.0:1.0:0.0	.	1605;1564;1564;1564	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	C	1564;1564;1564;1564;1564;1564;1605	ENSP00000339620:S1564C;ENSP00000289734:S1564C;ENSP00000369082:S1564C;ENSP00000380149:S1564C;ENSP00000380147:S1564C;ENSP00000309131:S1564C;ENSP00000265709:S1605C	ENSP00000265709:S1605C	S	-	2	0	ANK1	41649434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.387000	0.97232	2.635000	0.89317	0.552000	0.68991	TCT	ANK1	-	NULL	ENSG00000029534		0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	30	0.00	0	G	NM_020475		41530277	41530277	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114253195	114253195	+	Nonsense_Mutation	SNP	C	C	T	rs575678501		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:114253195C>T	ENST00000357077.4	+	28	3246	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	ANK2_ENST00000394537.3_Nonsense_Mutation_p.Q1065*|ANK2_ENST00000264366.6_Intron|ANK2_ENST00000506722.1_Nonsense_Mutation_p.Q1056*|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1065	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGCATTCTTCAGCTGGGGCC	0.483																																						dbGAP											0													111.0	119.0	117.0					4																	114253195		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3193C>T	4.37:g.114253195C>T	ENSP00000349588:p.Gln1065*		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.Q1065*	ENST00000357077.4	37	c.3193	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	43	10.127038	0.99342	.	.	ENSG00000145362	ENST00000503271;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000343056	.	.	.	5.62	5.62	0.85841	.	0.279287	0.19373	N	0.115852	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6611	0.95871	0.0:1.0:0.0:0.0	.	.	.	.	X	1044;1056;1080;1065;1065;1056	.	ENSP00000340561:Q1056X	Q	+	1	0	ANK2	114472644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.643000	0.89663	0.655000	0.94253	CAG	ANK2	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000145362		0.483	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	67	0.00	0	C	NM_001148		114253195	114253195	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	nonsense	46	11.54	6	SNP	1.000	T
ANKFY1	51479	genome.wustl.edu	37	17	4075888	4075888	+	Silent	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:4075888C>A	ENST00000341657.4	-	22	3137	c.3102G>T	c.(3100-3102)ggG>ggT	p.G1034G	ANKFY1_ENST00000570535.1_Silent_p.G1076G|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.G1035G	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1034					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCAGAGGATACCCCGGCATGC	0.537																																						dbGAP											0													80.0	87.0	85.0					17																	4075888		1981	4163	6144	-	-	-	SO:0001819	synonymous_variant	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3102G>T	17.37:g.4075888C>A			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.G1076	ENST00000341657.4	37	c.3228		17																																																																																			ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.537	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	59	0.00	0	C	NM_016376		4075888	4075888	-1	no_errors	ENST00000570535	ensembl	human	known	69_37n	silent	20	16.67	4	SNP	1.000	A
ANKFN1	162282	genome.wustl.edu	37	17	54526461	54526461	+	Missense_Mutation	SNP	G	G	A	rs201192117		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:54526461G>A	ENST00000318698.2	+	10	1165	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	ANKFN1_ENST00000566473.2_Missense_Mutation_p.R377K	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	377										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TATGACGACAGAGAGCCCAGA	0.478																																						dbGAP											0													108.0	107.0	107.0					17																	54526461		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1130G>A	17.37:g.54526461G>A	ENSP00000321627:p.Arg377Lys			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.R377K	ENST00000318698.2	37	c.1130	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742719	0.49151	.	.	ENSG00000153930	ENST00000318698	T	0.30448	1.53	5.25	5.25	0.73442	Ankyrin repeat-containing domain (1);	0.096810	0.64402	D	0.000001	T	0.32102	0.0818	L	0.58428	1.81	0.58432	D	0.999995	P	0.35077	0.483	B	0.27887	0.084	T	0.16129	-1.0413	10	0.51188	T	0.08	-15.344	18.8503	0.92225	0.0:0.0:1.0:0.0	.	377	Q8N957	ANKF1_HUMAN	K	377	ENSP00000321627:R377K	ENSP00000321627:R377K	R	+	2	0	ANKFN1	51881460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.744000	0.68664	2.460000	0.83146	0.655000	0.94253	AGA	ANKFN1	-	NULL	ENSG00000153930		0.478	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	68	0.00	0	G	NM_153228		54526461	54526461	+1	no_errors	ENST00000318698	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	1.000	A
ANKHD1	54882	genome.wustl.edu	37	5	139864797	139864797	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:139864797C>G	ENST00000360839.2	+	12	2116	c.1962C>G	c.(1960-1962)ctC>ctG	p.L654L	ANKHD1_ENST00000297183.6_Silent_p.L654L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L654L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	654						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAGCTTCTCTTGGCTCATG	0.488																																						dbGAP											0													105.0	92.0	96.0					5																	139864797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1962C>G	5.37:g.139864797C>G			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S149C	ENST00000360839.2	37	c.446	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	9.403	1.078624	0.20227	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.29	-7.12	0.01537	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41034	-0.9531	4	.	.	.	.	1.8135	0.03096	0.1506:0.2141:0.2216:0.4137	.	.	.	.	C	149	.	.	S	+	2	0	ANKHD1	139844981	0.001000	0.12720	0.853000	0.33588	0.988000	0.76386	-1.943000	0.01539	-1.118000	0.02961	-0.310000	0.09108	TCT	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.488	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	71	0.00	0	C	NM_017747		139864797	139864797	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000246149	ensembl	human	novel	69_37n	missense	32	33.33	16	SNP	0.592	G
ANKRD17	26057	genome.wustl.edu	37	4	74014745	74014745	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:74014745C>G	ENST00000358602.4	-	8	1468	c.1352G>C	c.(1351-1353)aGg>aCg	p.R451T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R338T|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R451T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	451					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGAAGTAACCTAGCTACTTC	0.383																																						dbGAP											0													48.0	39.0	42.0					4																	74014745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1352G>C	4.37:g.74014745C>G	ENSP00000351416:p.Arg451Thr		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.R451T	ENST00000358602.4	37	c.1352	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943684	0.92593	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.66460	-0.21;-0.21;-0.21	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.80177	0.4575	L	0.57130	1.785	0.43080	D	0.994736	D;D;P;D;P	0.71674	0.995;0.998;0.863;0.998;0.888	D;D;P;D;P	0.81914	0.989;0.984;0.822;0.995;0.817	T	0.81028	-0.1118	10	0.59425	D	0.04	.	19.2823	0.94057	0.0:1.0:0.0:0.0	.	36;451;451;451;338	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	T	451;451;451;338;451	ENSP00000351416:R451T;ENSP00000332265:R451T;ENSP00000427151:R338T	ENSP00000332265:R451T	R	-	2	0	ANKRD17	74233609	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.776000	0.85560	2.617000	0.88574	0.591000	0.81541	AGG	ANKRD17	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132466		0.383	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	33	0.00	0	C	NM_032217		74014745	74014745	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	G
ANKRD40	91369	genome.wustl.edu	37	17	48776873	48776873	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:48776873G>A	ENST00000285243.6	-	3	934	c.665C>T	c.(664-666)tCt>tTt	p.S222F	Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	222	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GGACGGGACAGAAGAAAACAG	0.542																																						dbGAP											0													122.0	130.0	127.0					17																	48776873		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.665C>T	17.37:g.48776873G>A	ENSP00000285243:p.Ser222Phe		Q96E32	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S222F	ENST00000285243.6	37	c.665	CCDS11572.1	17	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096761	0.56075	.	.	ENSG00000154945	ENST00000285243	T	0.24538	1.85	4.77	3.77	0.43336	.	0.451576	0.24573	N	0.037371	T	0.18257	0.0438	N	0.14661	0.345	0.26701	N	0.97116	B	0.33379	0.41	B	0.35510	0.204	T	0.13575	-1.0504	10	0.56958	D	0.05	-1.5353	14.9895	0.71374	0.0:0.1434:0.8566:0.0	.	222	Q6AI12	ANR40_HUMAN	F	222	ENSP00000285243:S222F	ENSP00000285243:S222F	S	-	2	0	ANKRD40	46131872	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	5.339000	0.65953	1.073000	0.40885	0.650000	0.86243	TCT	ANKRD40	-	NULL	ENSG00000154945		0.542	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	HGNC	protein_coding	OTTHUMT00000368201.2	79	0.00	0	G	NM_052855		48776873	48776873	-1	no_errors	ENST00000285243	ensembl	human	known	69_37n	missense	117	12.69	17	SNP	1.000	A
ANKS1B	56899	genome.wustl.edu	37	12	99166817	99166817	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:99166817C>T	ENST00000547776.2	-	24	3504				ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000549493.2_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000333732.7_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGTGGGTACTCACCACATCAA	0.428																																						dbGAP											0													92.0	91.0	91.0					12																	99166817		1900	4132	6032	-	-	-	SO:0001627	intron_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3504+2G>A	12.37:g.99166817C>T			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	RNA	SNP	-	NULL	ENST00000547776.2	37	NULL	CCDS55872.1	12																																																																																			ANKS1B	-	-	ENSG00000185046		0.428	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	61	0.00	0	C	NM_020140		99166817	99166817	-1	no_errors	ENST00000549315	ensembl	human	putative	69_37n	rna	53	14.29	9	SNP	1.000	T
ANKS1B	56899	genome.wustl.edu	37	12	99837459	99837459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:99837459G>A	ENST00000547776.2	-	11	1566	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103*|ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	523						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACCTGGGGTCGAATGACTTTT	0.423																																						dbGAP											0													146.0	141.0	143.0					12																	99837459		1887	4113	6000	-	-	-	SO:0001587	stop_gained	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1567C>T	12.37:g.99837459G>A	ENSP00000449629:p.Arg523*		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.R523*	ENST00000547776.2	37	c.1567	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.510718	0.98329	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	.	.	.	6.04	5.14	0.70334	.	0.086088	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6161	14.9348	0.70944	0.0:0.0:0.8569:0.1431	.	.	.	.	X	523;103;523;102;489	.	.	R	-	1	2	ANKS1B	98361590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.328000	0.90014	1.525000	0.49052	0.563000	0.77884	CGA	ANKS1B	-	NULL	ENSG00000185046		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	132	0.00	0	G	NM_020140		99837459	99837459	-1	no_errors	ENST00000329257	ensembl	human	known	69_37n	nonsense	97	30.71	43	SNP	1.000	A
ANO6	196527	genome.wustl.edu	37	12	45803172	45803172	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:45803172G>C	ENST00000320560.8	+	16	2115	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	ANO6_ENST00000435642.1_Missense_Mutation_p.R638T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.R620T|ANO6_ENST00000423947.3_Missense_Mutation_p.R659T|ANO6_ENST00000425752.2_Missense_Mutation_p.R638T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	638					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CGATTTCACAGAGTTTCTGGA	0.368																																						dbGAP											0													111.0	112.0	112.0					12																	45803172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1913G>C	12.37:g.45803172G>C	ENSP00000320087:p.Arg638Thr		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.R638T	ENST00000320560.8	37	c.1913	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	3.600	-0.081830	0.07141	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.7	-1.72	0.08107	.	0.892857	0.09768	N	0.758407	T	0.35480	0.0933	N	0.02876	-0.465	0.09310	N	1	B;B;B;B	0.11235	0.0;0.0;0.0;0.004	B;B;B;B	0.14023	0.001;0.0;0.002;0.01	T	0.17930	-1.0353	10	0.12430	T	0.62	.	15.6164	0.76769	0.0:0.684:0.2371:0.0789	.	620;659;638;638	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	T	638;659;638;638;620	ENSP00000391417:R638T;ENSP00000409126:R659T;ENSP00000413840:R638T;ENSP00000320087:R638T;ENSP00000413137:R620T	ENSP00000320087:R638T	R	+	2	0	ANO6	44089439	0.001000	0.12720	0.006000	0.13384	0.966000	0.64601	0.520000	0.22878	-0.197000	0.10350	0.655000	0.94253	AGA	ANO6	-	pfam_Anoctamin	ENSG00000177119		0.368	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	62	0.00	0	G	XM_113743		45803172	45803172	+1	no_errors	ENST00000425752	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	0.000	C
ANO4	121601	genome.wustl.edu	37	12	101491639	101491639	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:101491639G>C	ENST00000392977.3	+	21	2132	c.1922G>C	c.(1921-1923)gGa>gCa	p.G641A	ANO4_ENST00000392979.3_Missense_Mutation_p.G606A|ANO4_ENST00000299222.9_Missense_Mutation_p.G161A|ANO4_ENST00000550015.1_Missense_Mutation_p.G161A			Q32M45	ANO4_HUMAN	anoctamin 4	641					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCCTAGTGGATGCCTTATT	0.408										HNSCC(74;0.22)																												dbGAP											0													176.0	159.0	165.0					12																	101491639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1922G>C	12.37:g.101491639G>C	ENSP00000376703:p.Gly641Ala		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.G641A	ENST00000392977.3	37	c.1922		12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779491	0.90195	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.73469	-0.74;-0.59;-0.75;-0.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92578	0.6072	10	0.87932	D	0	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	161;641;606	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	A	606;161;641;161	ENSP00000376705:G606A;ENSP00000299222:G161A;ENSP00000376703:G641A;ENSP00000450192:G161A	ENSP00000299222:G161A	G	+	2	0	ANO4	100015770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.733000	0.93635	0.561000	0.74099	GGA	ANO4	-	pfam_Anoctamin	ENSG00000151572		0.408	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	98	0.00	0	G	NM_178826		101491639	101491639	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	missense	83	20.00	21	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112128144	112128144	+	Splice_Site	SNP	G	G	A	rs76685252	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:112128144G>A	ENST00000457016.1	+	7	1027	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	APC_ENST00000257430.4_Splice_Site_p.R216Q|APC_ENST00000508376.2_Splice_Site_p.R216Q			P25054	APC_HUMAN	adenomatous polyposis coli	216	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTATTTTAGCGAAGAATAGCC	0.328		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			G|||	3	0.000599042	0.0023	0.0	5008	,	,		13123	0.0		0.0	False		,,,				2504	0.0				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0			GRCh37	CM080056	APC	M	rs76685252						56.0	55.0	55.0					5																	112128144		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.646-1G>A	5.37:g.112128144G>A			D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R216Q	ENST00000457016.1	37	c.647	CCDS4107.1	5	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.503	1.103624	0.20632	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.19	3.1	0.35709	.	0.630262	0.16042	N	0.232387	T	0.77280	0.4107	N	0.22421	0.69	0.22001	N	0.999427	P	0.35328	0.495	B	0.17098	0.017	T	0.68716	-0.5335	10	0.46703	T	0.11	-5.2274	2.5766	0.04807	0.0908:0.2351:0.3784:0.2958	.	216	P25054	APC_HUMAN	Q	216	ENSP00000413133:R216Q;ENSP00000257430:R216Q;ENSP00000427089:R216Q;ENSP00000423828:R216Q	ENSP00000257430:R216Q	R	+	2	0	APC	112156043	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.864000	0.27926	1.308000	0.44962	0.650000	0.86243	CGA	APC	-	NULL	ENSG00000134982		0.328	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	50	0.00	0	G	NM_000038	Missense_Mutation	112128144	112128144	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	A
APC	324	genome.wustl.edu	37	5	112175084	112175084	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:112175084G>C	ENST00000457016.1	+	16	4173	c.3793G>C	c.(3793-3795)Gaa>Caa	p.E1265Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1265Q|APC_ENST00000508376.2_Missense_Mutation_p.E1265Q			P25054	APC_HUMAN	adenomatous polyposis coli	1265	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1265*(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTATTGTGTAGAAGATACTCC	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	3	Substitution - Nonsense(1)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(1)|soft_tissue(1)|skin(1)											53.0	55.0	55.0					5																	112175084		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3793G>C	5.37:g.112175084G>C	ENSP00000413133:p.Glu1265Gln		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E1265Q	ENST00000457016.1	37	c.3793	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454250	0.63290	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91458	0.5187	9	.	.	.	-23.7007	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1267;1265	Q4LE70;P25054	.;APC_HUMAN	Q	1265	ENSP00000413133:E1265Q;ENSP00000257430:E1265Q;ENSP00000427089:E1265Q;ENSP00000423828:E1265Q	.	E	+	1	0	APC	112202983	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAA	APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	36	0.00	0	G	NM_000038		112175084	112175084	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112175457	112175457	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:112175457C>T	ENST00000457016.1	+	16	4546	c.4166C>T	c.(4165-4167)tCt>tTt	p.S1389F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1389F|APC_ENST00000508376.2_Missense_Mutation_p.S1389F			P25054	APC_HUMAN	adenomatous polyposis coli	1389	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1389fs*5(3)|p.S1389F(1)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGATGTACTTCTGTCAGTTCA	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	7	Deletion - Frameshift(5)|Substitution - Missense(1)|Unknown(1)	large_intestine(5)|soft_tissue(1)|skin(1)											106.0	99.0	101.0					5																	112175457		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4166C>T	5.37:g.112175457C>T	ENSP00000413133:p.Ser1389Phe		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1389F	ENST00000457016.1	37	c.4166	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159949	0.78226	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.94537	-3.45;-3.45;-3.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95493	0.8571	9	.	.	.	-15.765	20.4898	0.99202	0.0:1.0:0.0:0.0	.	1391;1389	Q4LE70;P25054	.;APC_HUMAN	F	1389	ENSP00000413133:S1389F;ENSP00000257430:S1389F;ENSP00000427089:S1389F	.	S	+	2	0	APC	112203356	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCT	APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	44	0.00	0	C	NM_000038		112175457	112175457	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	38	27.78	15	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21238074	21238074	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:21238074C>T	ENST00000233242.1	-	23	3694	c.3567G>A	c.(3565-3567)atG>atA	p.M1189I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1189					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTGGAAGTCATTTTTTTGG	0.388																																						dbGAP											0													116.0	112.0	113.0					2																	21238074		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3567G>A	2.37:g.21238074C>T	ENSP00000233242:p.Met1189Ile		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.M1189I	ENST00000233242.1	37	c.3567	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	4.365	0.067210	0.08388	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00653	5.96	5.48	0.0434	0.14221	.	0.849500	0.10338	N	0.686601	T	0.00496	0.0016	N	0.19112	0.55	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.41680	-0.9495	10	0.07990	T	0.79	.	7.4527	0.27248	0.3658:0.5383:0.0:0.0959	.	1189	P04114	APOB_HUMAN	I	1189	ENSP00000233242:M1189I	ENSP00000233242:M1189I	M	-	3	0	APOB	21091579	0.007000	0.16637	0.047000	0.18901	0.799000	0.45148	-0.007000	0.12810	-0.217000	0.10033	0.650000	0.86243	ATG	APOB	-	NULL	ENSG00000084674		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	53	0.00	0	C			21238074	21238074	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	50	13.33	8	SNP	0.001	T
APOL6	80830	genome.wustl.edu	37	22	36054791	36054791	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:36054791C>T	ENST00000409652.4	+	3	456	c.180C>T	c.(178-180)ctC>ctT	p.L60L		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	60					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TTGACAAGCTCCGTGCCCTCG	0.468																																						dbGAP											0													105.0	101.0	102.0					22																	36054791		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.180C>T	22.37:g.36054791C>T			Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	pfam_ApoL	p.L60	ENST00000409652.4	37	c.180	CCDS13919.1	22																																																																																			APOL6	-	pfam_ApoL	ENSG00000221963		0.468	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL6	HGNC	protein_coding	OTTHUMT00000319081.2	73	0.00	0	C	NM_030641		36054791	36054791	+1	no_errors	ENST00000409652	ensembl	human	known	69_37n	silent	47	31.94	23	SNP	0.000	T
APTX	54840	genome.wustl.edu	37	9	33019979	33019979	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:33019979G>A	ENST00000473270.1	-	2	307							Q7Z2E3	APTX_HUMAN	aprataxin						cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CTTGGCCACAGACGCTGCGTT	0.667								Editing and processing nucleases																														dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000473270.1:c.339-3756C>T	9.37:g.33019979G>A			A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	RNA	SNP	-	NULL	ENST00000473270.1	37	NULL		9																																																																																			APTX	-	-	ENSG00000137074		0.667	APTX-023	KNOWN	basic	processed_transcript	APTX	HGNC	protein_coding	OTTHUMT00000355329.1	17	0.00	0	G	NM_017692		33019979	33019979	-1	no_errors	ENST00000489583	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.000	A
AQR	9716	genome.wustl.edu	37	15	35256470	35256470	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:35256470G>A	ENST00000156471.5	-	2	322	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	33					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGATGTGGGGAGCCCAGTAT	0.348																																						dbGAP											0													62.0	57.0	58.0					15																	35256470		1841	4094	5935	-	-	-	SO:0001583	missense	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.97C>T	15.37:g.35256470G>A	ENSP00000156471:p.Pro33Ser		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.P33S	ENST00000156471.5	37	c.97	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238953	0.79800	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93488	-3.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	M	0.67569	2.06	0.58432	D	0.999999	P	0.45902	0.868	B	0.41036	0.346	D	0.92059	0.5655	10	0.44086	T	0.13	-11.8276	16.3331	0.83050	0.0:0.0:1.0:0.0	.	33	O60306	AQR_HUMAN	S	33	ENSP00000156471:P33S	ENSP00000156471:P33S	P	-	1	0	AQR	33043762	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.673000	0.68109	2.880000	0.98712	0.650000	0.86243	CCC	AQR	-	NULL	ENSG00000021776		0.348	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	60	0.00	0	G	NM_014691		35256470	35256470	-1	no_errors	ENST00000156471	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	1.000	A
ARAP1	116985	genome.wustl.edu	37	11	72399551	72399551	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:72399551T>G	ENST00000393609.3	-	31	4221	c.4019A>C	c.(4018-4020)aAg>aCg	p.K1340T	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.K1100T|ARAP1_ENST00000429686.1_Missense_Mutation_p.K1023T|ARAP1_ENST00000359373.5_Missense_Mutation_p.K1329T|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.K1084T|ARAP1_ENST00000334211.8_Missense_Mutation_p.K1095T|ARAP1_ENST00000455638.2_Missense_Mutation_p.K1329T	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1340	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTTGAGACTCTTAATAGGCCA	0.577																																					Ovarian(102;1198 1520 13195 17913 37529)	dbGAP											0													77.0	64.0	68.0					11																	72399551		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.4019A>C	11.37:g.72399551T>G	ENSP00000377233:p.Lys1340Thr		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.K1340T	ENST00000393609.3	37	c.4019	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129373	0.37630	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.84	2.37	0.29283	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.114885	0.56097	D	0.000025	T	0.67618	0.2912	L	0.29908	0.895	0.35002	D	0.756049	B;P;P;B;B	0.47106	0.004;0.89;0.867;0.013;0.01	B;P;P;B;B	0.49528	0.064;0.614;0.557;0.026;0.062	T	0.72350	-0.4320	10	0.52906	T	0.07	.	9.348	0.38120	0.0:0.1062:0.0:0.8938	.	1084;1023;1329;1340;1100	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	T	1329;1329;1100;1095;1340;1084;1023;133	ENSP00000352332:K1329T;ENSP00000390461:K1329T;ENSP00000377230:K1100T;ENSP00000335506:K1095T;ENSP00000377233:K1340T;ENSP00000392264:K1084T;ENSP00000403127:K1023T;ENSP00000441741:K133T	ENSP00000335506:K1095T	K	-	2	0	ARAP1	72077199	0.503000	0.26115	0.938000	0.37757	0.891000	0.51852	1.571000	0.36450	0.266000	0.21894	0.523000	0.50628	AAG	ARAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000186635		0.577	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	52	0.00	0	T	NM_001040118		72399551	72399551	-1	no_errors	ENST00000393609	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	G
ARAP2	116984	genome.wustl.edu	37	4	36069753	36069753	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:36069753G>A	ENST00000303965.4	-	33	5380	c.4891C>T	c.(4891-4893)Cgg>Tgg	p.R1631W		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1631					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGAAACTCCGATGTTTTCGG	0.512																																						dbGAP											0													129.0	125.0	127.0					4																	36069753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4891C>T	4.37:g.36069753G>A	ENSP00000302895:p.Arg1631Trp		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R1631W	ENST00000303965.4	37	c.4891	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918337	0.73098	.	.	ENSG00000047365	ENST00000303965	T	0.09630	2.96	5.98	2.26	0.28386	.	0.146078	0.48286	D	0.000188	T	0.13329	0.0323	L	0.34521	1.04	0.36190	D	0.85001	D	0.76494	0.999	P	0.54210	0.745	T	0.10823	-1.0613	10	0.87932	D	0	.	7.4878	0.27443	0.0751:0.0:0.5022:0.4226	.	1631	Q8WZ64	ARAP2_HUMAN	W	1631	ENSP00000302895:R1631W	ENSP00000302895:R1631W	R	-	1	2	ARAP2	35746148	0.412000	0.25392	0.739000	0.30968	0.958000	0.62258	1.628000	0.37060	0.104000	0.17725	0.655000	0.94253	CGG	ARAP2	-	NULL	ENSG00000047365		0.512	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	89	0.00	0	G	NM_015230		36069753	36069753	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	missense	63	29.67	27	SNP	0.945	A
ARFGEF2	10564	genome.wustl.edu	37	20	47570306	47570306	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:47570306G>A	ENST00000371917.4	+	6	817	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	273					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CGCACCCAGAGAAAGAGGCTC	0.473																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													74.0	73.0	73.0					20																	47570306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.817G>A	20.37:g.47570306G>A	ENSP00000360985:p.Glu273Lys		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E273K	ENST00000371917.4	37	c.817	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157386	0.57259	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.22743	1.94	5.76	5.76	0.90799	Armadillo-type fold (1);	0.264908	0.34484	N	0.003927	T	0.14013	0.0339	N	0.19112	0.55	0.09310	N	0.999992	B	0.22604	0.072	B	0.15870	0.014	T	0.16600	-1.0397	10	0.09843	T	0.71	.	17.0414	0.86490	0.0:0.0:1.0:0.0	.	273	Q9Y6D5	BIG2_HUMAN	K	273	ENSP00000360985:E273K	ENSP00000360985:E273K	E	+	1	0	ARFGEF2	47003713	1.000000	0.71417	0.061000	0.19648	0.222000	0.24845	3.533000	0.53561	2.882000	0.98803	0.655000	0.94253	GAA	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	74	0.00	0	G	NM_006420		47570306	47570306	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	0.176	A
ARGLU1	55082	genome.wustl.edu	37	13	107220013	107220013	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:107220013G>A	ENST00000400198.3	-	1	499	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGTGCGCCCGAAGATGTCGA	0.682																																						dbGAP											0													39.0	39.0	39.0					13																	107220013		1977	4157	6134	-	-	-	SO:0001819	synonymous_variant	0			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.255C>T	13.37:g.107220013G>A			B4E0Y3|Q5T257|Q6IQ34	Silent	SNP	NULL	p.F85	ENST00000400198.3	37	c.255	CCDS41906.1	13																																																																																			ARGLU1	-	NULL	ENSG00000134884		0.682	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	HGNC	protein_coding	OTTHUMT00000045727.1	26	0.00	0	G	NM_018011		107220013	107220013	-1	no_errors	ENST00000400198	ensembl	human	known	69_37n	silent	17	26.09	6	SNP	1.000	A
ARHGAP29	9411	genome.wustl.edu	37	1	94696978	94696978	+	Missense_Mutation	SNP	C	C	T	rs200189126		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:94696978C>T	ENST00000260526.6	-	2	372	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E64K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	64					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AATATGGCTTCTTTCAAATAT	0.363																																						dbGAP											0													74.0	73.0	74.0					1																	94696978		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.190G>A	1.37:g.94696978C>T	ENSP00000260526:p.Glu64Lys		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.E64K	ENST00000260526.6	37	c.190	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826469	0.90955	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.27720	1.65;1.68	5.83	5.83	0.93111	.	0.000000	0.37219	N	0.002196	T	0.36358	0.0964	L	0.55990	1.75	0.48632	D	0.999685	D;P	0.56035	0.974;0.521	P;B	0.54499	0.754;0.443	T	0.08269	-1.0730	10	0.72032	D	0.01	-21.095	17.0506	0.86517	0.0:1.0:0.0:0.0	.	64;64	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	K	64	ENSP00000260526:E64K;ENSP00000359237:E64K	ENSP00000260526:E64K	E	-	1	0	ARHGAP29	94469566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.413000	0.59795	2.770000	0.95276	0.655000	0.94253	GAA	ARHGAP29	-	NULL	ENSG00000137962		0.363	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	82	0.00	0	C	NM_004815		94696978	94696978	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	47	30.88	21	SNP	1.000	T
ARHGAP6	395	genome.wustl.edu	37	X	11272783	11272783	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:11272783C>T	ENST00000337414.4	-	2	1505	c.633G>A	c.(631-633)ctG>ctA	p.L211L	ARHGAP6_ENST00000303025.6_Silent_p.L8L|ARHGAP6_ENST00000534860.1_Silent_p.L36L|ARHGAP6_ENST00000413512.3_Silent_p.L20L|ARHGAP6_ENST00000380736.1_Silent_p.L8L|ARHGAP6_ENST00000380718.1_Silent_p.L211L|ARHGAP6_ENST00000380732.3_Silent_p.L243L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	211					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGACTGACCTCAGCCGTACAC	0.488																																						dbGAP											0													54.0	53.0	53.0					X																	11272783		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.633G>A	X.37:g.11272783C>T			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L211	ENST00000337414.4	37	c.633	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL	ENSG00000047648		0.488	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	29	0.00	0	C	NM_013427		11272783	11272783	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	1.000	T
ARHGEF10	9639	genome.wustl.edu	37	8	1806219	1806219	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:1806219G>A	ENST00000398564.1	+	3	203	c.203G>A	c.(202-204)aGa>aAa	p.R68K	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.R44K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.R68K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.R68K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.R44K|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.R68K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	68					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAAGCGGACAGACAGGCCCCA	0.507																																						dbGAP											0													57.0	57.0	57.0					8																	1806219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.203G>A	8.37:g.1806219G>A	ENSP00000381571:p.Arg68Lys		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.R68K	ENST00000398564.1	37	c.203		8	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972400	0.74246	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.71579	0.2;-0.25;0.18;-0.58;0.18;0.16	4.93	4.93	0.64822	.	0.378221	0.26844	N	0.022214	T	0.76083	0.3938	L	0.56769	1.78	0.09310	N	0.999996	P;P	0.50443	0.935;0.935	P;P	0.50708	0.648;0.648	T	0.71583	-0.4549	10	0.62326	D	0.03	-23.867	17.736	0.88392	0.0:0.0:1.0:0.0	.	44;44	O15013-7;O15013-5	.;.	K	44;44;68;68;68;68	ENSP00000340297:R44K;ENSP00000427909:R44K;ENSP00000431012:R68K;ENSP00000381568:R68K;ENSP00000381571:R68K;ENSP00000262112:R68K	ENSP00000262112:R68K	R	+	2	0	ARHGEF10	1793626	0.998000	0.40836	0.018000	0.16275	0.071000	0.16799	7.437000	0.80417	2.240000	0.73641	0.655000	0.94253	AGA	ARHGEF10	-	NULL	ENSG00000104728		0.507	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		35	0.00	0	G			1806219	1806219	+1	no_errors	ENST00000398564	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.202	A
ARHGEF28	64283	genome.wustl.edu	37	5	73178323	73178323	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:73178323G>C	ENST00000426542.2	+	22	2861	c.2841G>C	c.(2839-2841)atG>atC	p.M947I	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.M947I|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.M947I|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.M947I|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.M947I|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.M947I|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.M634I			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	947	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAAGTAAAATGAAGAAAATAT	0.269																																						dbGAP											0													16.0	15.0	16.0					5																	73178323		1762	3996	5758	-	-	-	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2841G>C	5.37:g.73178323G>C	ENSP00000412175:p.Met947Ile		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.M947I	ENST00000426542.2	37	c.2841	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775847	0.90195	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.68	5.68	0.88126	Dbl homology (DH) domain (5);	.	.	.	.	T	0.78065	0.4225	L	0.59436	1.845	0.58432	D	0.999995	D;D;D;D	0.89917	0.999;1.0;0.985;0.999	D;D;D;D	0.87578	0.998;0.998;0.949;0.986	T	0.78645	-0.2123	9	0.72032	D	0.01	.	19.7958	0.96481	0.0:0.0:1.0:0.0	.	634;947;947;947	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	I	947;947;947;947;947;947;634	ENSP00000296794:M947I;ENSP00000441913:M947I;ENSP00000441436:M947I;ENSP00000287898:M947I;ENSP00000411459:M947I;ENSP00000412175:M947I;ENSP00000296799:M634I	ENSP00000287898:M947I	M	+	3	0	RP11-428C6.1	73214079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.819000	0.86621	2.695000	0.91970	0.650000	0.86243	ATG	ARHGEF28	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000214944		0.269	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	29	0.00	0	G			73178323	73178323	+1	no_errors	ENST00000545377	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	C
ARHGEF4	50649	genome.wustl.edu	37	2	131801929	131801929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:131801929G>T	ENST00000326016.5	+	12	2176	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Nonsense_Mutation_p.E553*|ARHGEF4_ENST00000409303.1_Nonsense_Mutation_p.E493*|ARHGEF4_ENST00000355771.3_Nonsense_Mutation_p.E482*|ARHGEF4_ENST00000392953.3_Nonsense_Mutation_p.E553*	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	553	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGACGGCCTGGAGGTGGTGGA	0.662																																						dbGAP											0													65.0	50.0	55.0					2																	131801929		2196	4300	6496	-	-	-	SO:0001587	stop_gained	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1657G>T	2.37:g.131801929G>T	ENSP00000316845:p.Glu553*		Q9HDC6|Q9UPP0	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E553*	ENST00000326016.5	37	c.1657	CCDS2165.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.242282|9.242282	0.99111|0.99111	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	.|.	.|.	.|.	5.2|5.2	4.32|4.32	0.51571|0.51571	.|.	0.114981|.	0.56097|.	D|.	0.000031|.	.|T	.|0.63792	.|0.2541	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70528	.|-0.4847	.|3	0.40728|.	T|.	0.16|.	.|.	13.5462|13.5462	0.61705|0.61705	0.0:0.1576:0.8424:0.0|0.0:0.1576:0.8424:0.0	.|.	.|.	.|.	.|.	X|V	553;553;553;493;482|169	.|.	ENSP00000316845:E553X|.	E|G	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131518399|131518399	1.000000|1.000000	0.71417|0.71417	0.036000|0.036000	0.18154|0.18154	0.812000|0.812000	0.45895|0.45895	6.202000|6.202000	0.72131|0.72131	1.177000|1.177000	0.42855|0.42855	0.561000|0.561000	0.74099|0.74099	GAG|GGA	ARHGEF4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000136002		0.662	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	31	0.00	0	G			131801929	131801929	+1	no_errors	ENST00000326016	ensembl	human	known	69_37n	nonsense	14	26.32	5	SNP	0.998	T
ARHGEF40	55701	genome.wustl.edu	37	14	21544955	21544955	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:21544955A>G	ENST00000298694.4	+	8	2067	c.1940A>G	c.(1939-1941)aAt>aGt	p.N647S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.N647S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	647						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGTCAGAGAATGATCTGAAA	0.582																																						dbGAP											0													53.0	55.0	55.0					14																	21544955		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1940A>G	14.37:g.21544955A>G	ENSP00000298694:p.Asn647Ser		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.N647S	ENST00000298694.4	37	c.1940	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	A	6.968	0.548495	0.13312	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02103	4.52;4.45	5.76	-2.36	0.06663	.	0.913837	0.09309	N	0.819800	T	0.00967	0.0032	N	0.00926	-1.1	0.21604	N	0.999621	B	0.02656	0.0	B	0.01281	0.0	T	0.49062	-0.8978	10	0.26408	T	0.33	.	11.9941	0.53191	0.31:0.0:0.69:0.0	.	647	Q8TER5	ARH40_HUMAN	S	647	ENSP00000298694:N647S;ENSP00000298693:N647S	ENSP00000298693:N647S	N	+	2	0	ARHGEF40	20614795	0.824000	0.29247	0.897000	0.35233	0.983000	0.72400	0.157000	0.16402	-0.347000	0.08299	0.459000	0.35465	AAT	ARHGEF40	-	NULL	ENSG00000165801		0.582	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	38	0.00	0	A			21544955	21544955	+1	no_errors	ENST00000298694	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.949	G
ARID2	196528	genome.wustl.edu	37	12	46240701	46240701	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:46240701G>A	ENST00000334344.6	+	12	1733	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	ARID2_ENST00000444670.1_Missense_Mutation_p.E131K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E372K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	521					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.E521*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAGATAGTGAGAAGTTTGC	0.363			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Nonsense(1)	lung(1)											164.0	167.0	166.0					12																	46240701		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1561G>A	12.37:g.46240701G>A	ENSP00000335044:p.Glu521Lys		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E521K	ENST00000334344.6	37	c.1561	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.233213	0.95207	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	D;D;D	0.82167	-1.58;-1.58;-1.58	5.24	5.24	0.73138	DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.90803	0.7112	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.99;0.995	D	0.91388	0.5133	10	0.72032	D	0.01	-10.5925	19.1868	0.93647	0.0:0.0:1.0:0.0	.	521;521	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	K	521;372;131	ENSP00000335044:E521K;ENSP00000415650:E372K;ENSP00000397307:E131K	ENSP00000335044:E521K	E	+	1	0	ARID2	44526968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.953000	0.93041	2.617000	0.88574	0.563000	0.77884	GAG	ARID2	-	pfam_DNA-bd_RFX	ENSG00000189079		0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	145	0.00	0	G	XM_350875		46240701	46240701	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	missense	108	26.03	38	SNP	1.000	A
ARID5B	84159	genome.wustl.edu	37	10	63851361	63851361	+	Silent	SNP	A	A	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:63851361A>C	ENST00000279873.7	+	10	2549	c.2139A>C	c.(2137-2139)ccA>ccC	p.P713P	ARID5B_ENST00000309334.5_Silent_p.P470P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	713					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATGGCTCCCCACCCCCTTTGA	0.542																																						dbGAP											0													80.0	81.0	81.0					10																	63851361		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2139A>C	10.37:g.63851361A>C			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P713	ENST00000279873.7	37	c.2139	CCDS31208.1	10																																																																																			ARID5B	-	NULL	ENSG00000150347		0.542	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	62	0.00	0	A	XM_084482		63851361	63851361	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	silent	24	21.88	7	SNP	0.946	C
ARL10	285598	genome.wustl.edu	37	5	175795857	175795857	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:175795857G>A	ENST00000310389.5	+	3	529	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	145					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GTTTGTGAGCGAGGTGGATGT	0.657																																						dbGAP											0													100.0	101.0	101.0					5																	175795857		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.433G>A	5.37:g.175795857G>A	ENSP00000308496:p.Glu145Lys			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.E145K	ENST00000310389.5	37	c.433	CCDS4400.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.454573|2.454573	0.43634|0.43634	.|.	.|.	ENSG00000175414|ENSG00000175414	ENST00000310389|ENST00000514533	T|.	0.70282|.	-0.47|.	5.16|5.16	4.26|4.26	0.50523|0.50523	.|.	0.524360|.	0.22259|.	N|.	0.062437|.	T|T	0.13841|0.13841	0.0335|0.0335	N|N	0.03000|0.03000	-0.44|-0.44	0.30162|0.30162	N|N	0.802083|0.802083	P;P|.	0.44478|.	0.488;0.836|.	B;B|.	0.32805|.	0.106;0.153|.	T|T	0.09751|0.09751	-1.0660|-1.0660	10|5	0.66056|.	D|.	0.02|.	-28.1827|-28.1827	4.9737|4.9737	0.14129|0.14129	0.1757:0.1992:0.6251:0.0|0.1757:0.1992:0.6251:0.0	.|.	145;145|.	Q8N8L6;Q6PCE2|.	ARL10_HUMAN;.|.	K|Q	145|2	ENSP00000308496:E145K|.	ENSP00000308496:E145K|.	E|R	+|+	1|2	0|0	ARL10|ARL10	175728463|175728463	0.928000|0.928000	0.31464|0.31464	0.990000|0.990000	0.47175|0.47175	0.879000|0.879000	0.50718|0.50718	2.119000|2.119000	0.41958|0.41958	2.682000|2.682000	0.91365|0.91365	0.655000|0.655000	0.94253|0.94253	GAG|CGA	ARL10	-	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	ENSG00000175414		0.657	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	63	0.00	0	G	NM_173664		175795857	175795857	+1	no_errors	ENST00000310389	ensembl	human	known	69_37n	missense	41	26.32	15	SNP	0.969	A
ARSG	22901	genome.wustl.edu	37	17	66339821	66339821	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:66339821C>T	ENST00000448504.2	+	3	1091	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	99					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTGGCCTTCGCAATGGAGT	0.607																																						dbGAP											0													73.0	61.0	65.0					17																	66339821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.295C>T	17.37:g.66339821C>T	ENSP00000407193:p.Arg99Cys		Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R99C	ENST00000448504.2	37	c.295	CCDS11676.1	17	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095351	0.76870	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.86	3.84	0.44239	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88190	0.6370	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92196	0.5764	9	0.87932	D	0	.	14.3205	0.66484	0.1485:0.8515:0.0:0.0	.	99	Q96EG1	ARSG_HUMAN	C	99	.	ENSP00000413953:R99C	R	+	1	0	ARSG	63851416	0.997000	0.39634	0.993000	0.49108	0.945000	0.59286	3.767000	0.55288	2.514000	0.84764	0.650000	0.86243	CGC	ARSG	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000141337		0.607	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1	49	0.00	0	C	NM_014960		66339821	66339821	+1	no_errors	ENST00000448504	ensembl	human	known	69_37n	missense	40	10.87	5	SNP	0.972	T
ARSI	340075	genome.wustl.edu	37	5	149676953	149676953	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:149676953G>A	ENST00000328668.7	-	2	2113	c.1534C>T	c.(1534-1536)Cat>Tat	p.H512Y		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	512					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTCAGGATGAGCCCGGGGG	0.642																																						dbGAP											0													81.0	94.0	90.0					5																	149676953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1534C>T	5.37:g.149676953G>A	ENSP00000333395:p.His512Tyr		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.H512Y	ENST00000328668.7	37	c.1534	CCDS34275.1	5	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828804	0.32329	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96300	-3.97;-3.97	4.55	4.55	0.56014	Alkaline-phosphatase-like, core domain (1);	0.182064	0.49916	D	0.000123	D	0.91280	0.7251	N	0.19112	0.55	0.31501	N	0.664813	P	0.37061	0.58	B	0.36335	0.222	D	0.90978	0.4825	10	0.32370	T	0.25	.	12.5995	0.56489	0.0:0.0:0.8342:0.1658	.	512	Q5FYB1	ARSI_HUMAN	Y	512;369	ENSP00000333395:H512Y;ENSP00000426879:H369Y	ENSP00000333395:H512Y	H	-	1	0	ARSI	149657146	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.443000	0.59994	2.352000	0.79861	0.637000	0.83480	CAT	ARSI	-	superfamily_Alkaline_phosphatase_core	ENSG00000183876		0.642	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSI	HGNC	protein_coding	OTTHUMT00000373681.1	62	0.00	0	G	NM_001012301		149676953	149676953	-1	no_errors	ENST00000328668	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	A
ASB9	140462	genome.wustl.edu	37	X	15262576	15262576	+	3'UTR	SNP	C	C	A	rs201067436		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:15262576C>A	ENST00000380488.4	-	0	1210				ASB9_ENST00000380485.3_3'UTR|ASB9_ENST00000546332.1_3'UTR|ASB9_ENST00000380483.3_3'UTR|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9						intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTAGTGGCTACAACACTCAAT	0.328													C|||	328	0.0868874	0.0348	0.0778	3775	,	,		14294	0.126		0.0964	False		,,,				2504	0.0041					dbGAP											0													65.0	66.0	66.0					X																	15262576		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.*52G>T	X.37:g.15262576C>A			A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	RNA	SNP	-	NULL	ENST00000380488.4	37	NULL	CCDS35208.1	X																																																																																			ASB9	-	-	ENSG00000102048		0.328	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB9	HGNC	protein_coding	OTTHUMT00000055844.1	48	0.00	0	C			15262576	15262576	-1	no_errors	ENST00000473862	ensembl	human	known	69_37n	rna	27	34.15	14	SNP	0.000	A
ARX	170302	genome.wustl.edu	37	X	25028418	25028418	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:25028418C>G	ENST00000379044.4	-	3	1288	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	360					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						ATGGCCAGTTCCTCCCTATAA	0.607																																						dbGAP											0													61.0	52.0	55.0					X																	25028418		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1078G>C	X.37:g.25028418C>G	ENSP00000368332:p.Glu360Gln			Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_Antifreeze_1	p.E360Q	ENST00000379044.4	37	c.1078	CCDS14215.1	X	.	.	.	.	.	.	.	.	.	.	c	11.63	1.697311	0.30142	.	.	ENSG00000004848	ENST00000379044	D	0.96396	-4.0	4.68	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136400	0.47093	D	0.000243	D	0.94932	0.8361	N	0.25380	0.74	0.80722	D	1	P	0.44344	0.833	P	0.53760	0.734	D	0.94253	0.7495	10	0.56958	D	0.05	.	12.2991	0.54864	0.0:0.9143:0.0:0.0857	.	360	Q96QS3	ARX_HUMAN	Q	360	ENSP00000368332:E360Q	ENSP00000368332:E360Q	E	-	1	0	ARX	24938339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.983000	0.63832	0.901000	0.36495	0.519000	0.50382	GAA	ARX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000004848		0.607	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARX	HGNC	protein_coding	OTTHUMT00000056109.1	60	0.00	0	C			25028418	25028418	-1	no_errors	ENST00000379044	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	G
ASCC2	84164	genome.wustl.edu	37	22	30221653	30221653	+	Silent	SNP	G	G	A	rs199602779		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:30221653G>A	ENST00000397771.2	-	4	375	c.198C>T	c.(196-198)ctC>ctT	p.L66L	ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Silent_p.L66L			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGAGCCAGTCGAGGTCATTGG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20051	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													113.0	100.0	104.0					22																	30221653		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.198C>T	22.37:g.30221653G>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.L66	ENST00000397771.2	37	c.198	CCDS13869.1	22																																																																																			ASCC2	-	NULL	ENSG00000100325		0.493	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	62	0.00	0	G	NM_032204		30221653	30221653	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	silent	37	24.49	12	SNP	1.000	A
ASPSCR1	79058	genome.wustl.edu	37	17	79966993	79966993	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:79966993G>A	ENST00000306739.4	+	8	1111	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	ASPSCR1_ENST00000306729.7_Silent_p.A338A|ASPSCR1_ENST00000580534.1_Silent_p.A261A	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	338	Interaction with GLUT4. {ECO:0000250}.				glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTGGCCAGCGGAGCTGCCTG	0.706			T	TFE3	alveolar soft part sarcoma																																	dbGAP		Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													42.0	38.0	39.0					17																	79966993		2186	4294	6480	-	-	-	SO:0001819	synonymous_variant	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1014G>A	17.37:g.79966993G>A			A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG	p.R152Q	ENST00000306739.4	37	c.455	CCDS11796.1	17																																																																																			ASPSCR1	-	NULL	ENSG00000169696		0.706	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	24	0.00	0	G	NM_024083		79966993	79966993	+1	no_errors	ENST00000583503	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.005	A
ATF3	467	genome.wustl.edu	37	1	212788425	212788425	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:212788425C>G	ENST00000341491.4	+	2	327	c.62C>G	c.(61-63)cCc>cGc	p.P21R	ATF3_ENST00000366983.1_Missense_Mutation_p.P21R|ATF3_ENST00000336937.4_Intron|ATF3_ENST00000366987.2_Missense_Mutation_p.P21R|ATF3_ENST00000366985.1_Intron|ATF3_ENST00000492118.1_Intron|RN7SL512P_ENST00000578962.1_RNA	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	21					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GCCATCGTCCCCTGCCTGTCC	0.527																																						dbGAP											0													124.0	94.0	104.0					1																	212788425		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.62C>G	1.37:g.212788425C>G	ENSP00000344352:p.Pro21Arg		Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.P21R	ENST00000341491.4	37	c.62	CCDS1506.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.085888	0.94100	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366983	T;T;T;T	0.80653	0.04;0.02;0.02;-1.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	D	0.86671	0.1910	10	0.87932	D	0	-10.1157	20.6593	0.99626	0.0:1.0:0.0:0.0	.	21;21;21	Q7Z567;Q8WYM6;P18847	.;.;ATF3_HUMAN	R	21	ENSP00000355948:P21R;ENSP00000355954:P21R;ENSP00000344352:P21R;ENSP00000355950:P21R	ENSP00000344352:P21R	P	+	2	0	ATF3	210855048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.885000	0.99019	0.655000	0.94253	CCC	ATF3	-	NULL	ENSG00000162772		0.527	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF3	HGNC	protein_coding	OTTHUMT00000089296.1	55	0.00	0	C	NM_001674		212788425	212788425	+1	no_errors	ENST00000341491	ensembl	human	known	69_37n	missense	43	29.51	18	SNP	1.000	G
ATG16L1	55054	genome.wustl.edu	37	2	234171846	234171846	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:234171846G>C	ENST00000392017.4	+	3	537	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.E94Q|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Missense_Mutation_p.E94Q	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	94					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TAAGCACCAAGAGGAACTGAC	0.493																																						dbGAP											0													140.0	106.0	117.0					2																	234171846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.280G>C	2.37:g.234171846G>C	ENSP00000375872:p.Glu94Gln		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E94Q	ENST00000392017.4	37	c.280	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	G	30	5.055319	0.93793	.	.	ENSG00000085978	ENST00000431917;ENST00000392017;ENST00000417017;ENST00000392020;ENST00000392018	T;T;T	0.57436	0.44;0.44;0.4	5.17	5.17	0.71159	Autophagy-related protein 16 (1);	0.693749	0.15239	N	0.272962	T	0.70718	0.3256	M	0.74258	2.255	0.80722	D	1	P;P	0.50066	0.915;0.931	P;P	0.56648	0.702;0.803	T	0.73547	-0.3948	10	0.87932	D	0	.	19.0551	0.93059	0.0:0.0:1.0:0.0	.	94;94	Q676U5-2;Q676U5	.;A16L1_HUMAN	Q	10;94;94;94;94	ENSP00000375872:E94Q;ENSP00000375875:E94Q;ENSP00000375873:E94Q	ENSP00000375872:E94Q	E	+	1	0	ATG16L1	233836585	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.024000	0.93689	2.571000	0.86741	0.650000	0.86243	GAG	ATG16L1	-	pfam_Autophagy-rel_prot_16	ENSG00000085978		0.493	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	HGNC	protein_coding	OTTHUMT00000257069.2	74	0.00	0	G	NM_017974		234171846	234171846	+1	no_errors	ENST00000392017	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	1.000	C
ATG16L1	55054	genome.wustl.edu	37	2	234182378	234182378	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:234182378C>T	ENST00000392017.4	+	8	1063	c.806C>T	c.(805-807)tCg>tTg	p.S269L	ATG16L1_ENST00000347464.5_Intron|SCARNA5_ENST00000516201.1_RNA|ATG16L1_ENST00000392020.4_Intron|ATG16L1_ENST00000373525.5_Missense_Mutation_p.S125L|ATG16L1_ENST00000392018.1_Missense_Mutation_p.S269L|ATG16L1_ENST00000498620.1_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	269					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AAGCGACTCTCGCAGCCTGCT	0.388																																						dbGAP											0													134.0	139.0	137.0					2																	234182378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.806C>T	2.37:g.234182378C>T	ENSP00000375872:p.Ser269Leu		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S269L	ENST00000392017.4	37	c.806	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640161	0.87760	.	.	ENSG00000085978	ENST00000392017;ENST00000444735;ENST00000373525;ENST00000417017;ENST00000392018	T;T;T;T	0.56444	0.77;0.46;0.79;0.81	5.81	5.81	0.92471	.	0.519468	0.22750	N	0.056090	T	0.63283	0.2498	L	0.60455	1.87	0.80722	D	1	D;D	0.64830	0.994;0.962	P;B	0.55112	0.769;0.348	T	0.54682	-0.8257	10	0.14252	T	0.57	.	20.0776	0.97750	0.0:1.0:0.0:0.0	.	125;269	Q676U5-4;Q676U5	.;A16L1_HUMAN	L	269;125;125;185;269	ENSP00000375872:S269L;ENSP00000409215:S125L;ENSP00000362625:S125L;ENSP00000375873:S269L	ENSP00000362625:S125L	S	+	2	0	ATG16L1	233847117	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.924000	0.75823	2.754000	0.94517	0.655000	0.94253	TCG	ATG16L1	-	NULL	ENSG00000085978		0.388	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	HGNC	protein_coding	OTTHUMT00000257069.2	165	0.00	0	C	NM_017974		234182378	234182378	+1	no_errors	ENST00000392017	ensembl	human	known	69_37n	missense	131	28.42	52	SNP	1.000	T
ATG2B	55102	genome.wustl.edu	37	14	96788996	96788996	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:96788996C>T	ENST00000359933.4	-	17	3510	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	873					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TAGTGACCATCATTCTCCTCT	0.408																																						dbGAP											0													119.0	112.0	114.0					14																	96788996		1906	4129	6035	-	-	-	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2617G>A	14.37:g.96788996C>T	ENSP00000353010:p.Asp873Asn		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.D873N	ENST00000359933.4	37	c.2617	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561034	0.86335	.	.	ENSG00000066739	ENST00000359933	T	0.11495	2.77	5.67	5.67	0.87782	.	0.000000	0.32372	U	0.006181	T	0.12263	0.0298	L	0.36672	1.1	0.54753	D	0.999985	B	0.31383	0.321	B	0.29353	0.101	T	0.04840	-1.0923	10	0.46703	T	0.11	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	873	Q96BY7	ATG2B_HUMAN	N	873	ENSP00000353010:D873N	ENSP00000353010:D873N	D	-	1	0	ATG2B	95858749	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.141000	0.77330	2.679000	0.91253	0.655000	0.94253	GAT	ATG2B	-	NULL	ENSG00000066739		0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	109	0.00	0	C	NM_018036		96788996	96788996	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	missense	84	11.58	11	SNP	1.000	T
ATP13A5	344905	genome.wustl.edu	37	3	192992930	192992930	+	Silent	SNP	G	G	A	rs201331139	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:192992930G>A	ENST00000342358.4	-	30	3675	c.3558C>T	c.(3556-3558)ttC>ttT	p.F1186F	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1186						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CGTTGATGTAGAATCCATTTT	0.433																																						dbGAP											0													199.0	181.0	187.0					3																	192992930		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3558C>T	3.37:g.192992930G>A			Q6UWS4|Q6ZWL0	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.F1186	ENST00000342358.4	37	c.3558	CCDS33914.1	3																																																																																			ATP13A5	-	NULL	ENSG00000187527		0.433	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	141	0.00	0	G	NM_198505		192992930	192992930	-1	no_errors	ENST00000342358	ensembl	human	known	69_37n	silent	108	18.66	25	SNP	0.998	A
ATP13A4	84239	genome.wustl.edu	37	3	193160240	193160240	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:193160240G>A	ENST00000342695.4	-	19	2580	c.2258C>T	c.(2257-2259)tCa>tTa	p.S753L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S734L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	753						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATAGATGCTGATGAGGACCC	0.418																																						dbGAP											0													150.0	134.0	140.0					3																	193160240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2258C>T	3.37:g.193160240G>A	ENSP00000339182:p.Ser753Leu		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.Q393*	ENST00000342695.4	37	c.1177	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457813	0.43634	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.85556	-1.71;-2.0	5.87	5.87	0.94306	HAD-like domain (1);	0.301676	0.29139	N	0.013030	T	0.74222	0.3688	N	0.16166	0.38	0.58432	D	0.99999	B;B;B	0.14012	0.009;0.004;0.009	B;B;B	0.20384	0.02;0.011;0.029	T	0.67875	-0.5557	10	0.36615	T	0.2	-22.1444	12.4728	0.55797	0.0767:0.0:0.9233:0.0	.	734;753;753	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	L	734;753	ENSP00000376238:S734L;ENSP00000339182:S753L	ENSP00000339182:S753L	S	-	2	0	ATP13A4	194642934	0.974000	0.33945	0.979000	0.43373	0.985000	0.73830	3.844000	0.55873	2.941000	0.99782	0.655000	0.94253	TCA	ATP13A4	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000127249		0.418	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	108	0.00	0	G	NM_032279		193160240	193160240	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000428352	ensembl	human	known	69_37n	nonsense	75	31.82	35	SNP	0.614	A
ATP2B1	490	genome.wustl.edu	37	12	90036112	90036112	+	Missense_Mutation	SNP	C	C	G	rs373320828		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:90036112C>G	ENST00000428670.3	-	3	685	c.229G>C	c.(229-231)Gat>Cat	p.D77H	ATP2B1_ENST00000359142.3_Missense_Mutation_p.D77H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.D77H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.D77H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	77					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTTTCTAAATCTGCAGGGTTT	0.299																																						dbGAP											0													144.0	169.0	160.0					12																	90036112		2203	4299	6502	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.229G>C	12.37:g.90036112C>G	ENSP00000392043:p.Asp77His		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D77H	ENST00000428670.3	37	c.229	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812491	0.90707	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95471	0.8551	9	.	.	.	-16.8843	19.9721	0.97287	0.0:1.0:0.0:0.0	.	77;77	P20020-3;P20020-2	.;.	H	77	ENSP00000261173:D77H;ENSP00000343599:D77H;ENSP00000352054:D77H;ENSP00000392043:D77H	.	D	-	1	0	ATP2B1	88560243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.724000	0.93272	0.462000	0.41574	GAT	ATP2B1	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N	ENSG00000070961		0.299	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	72	0.00	0	C	NM_001682		90036112	90036112	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	1.000	G
ATP6V1D	51382	genome.wustl.edu	37	14	67810151	67810151	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:67810151G>C	ENST00000216442.7	-	7	1011	c.461C>G	c.(460-462)tCt>tGt	p.S154C	ATP6V1D_ENST00000555474.1_Missense_Mutation_p.S55C|ATP6V1D_ENST00000554236.1_Intron|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.S99C	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	154					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AGTAACAAAAGAAGTCTAAAA	0.358																																						dbGAP											0													129.0	112.0	118.0					14																	67810151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"""ATPases / V-type"""	13527	protein-coding gene	gene with protein product		609398	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"""	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.461C>G	14.37:g.67810151G>C	ENSP00000216442:p.Ser154Cys		B2RE33|Q9Y688	Missense_Mutation	SNP	pfam_V_ATPase_D,tigrfam_V_ATPase_D	p.S154C	ENST00000216442.7	37	c.461	CCDS9780.1	14	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856092	0.71834	.	.	ENSG00000100554	ENST00000555474;ENST00000216442;ENST00000555431	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.71036	2.16	0.80722	D	1	B	0.32101	0.356	B	0.43225	0.412	T	0.74717	-0.3571	9	0.54805	T	0.06	-26.7381	19.9813	0.97326	0.0:0.0:1.0:0.0	.	154	Q9Y5K8	VATD_HUMAN	C	55;154;99	.	ENSP00000216442:S154C	S	-	2	0	ATP6V1D	66879904	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.671000	0.98627	2.726000	0.93360	0.655000	0.94253	TCT	ATP6V1D	-	pfam_V_ATPase_D,tigrfam_V_ATPase_D	ENSG00000100554		0.358	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1D	HGNC	protein_coding	OTTHUMT00000412511.1	51	0.00	0	G	NM_015994		67810151	67810151	-1	no_errors	ENST00000216442	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	1.000	C
ATP6V1E2	90423	genome.wustl.edu	37	2	46739730	46739730	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:46739730C>G	ENST00000306448.4	-	2	1234	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E41Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	41					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGTCCTTTCTCAATGTTAAAC	0.433																																						dbGAP											0													191.0	181.0	184.0					2																	46739730		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.121G>C	2.37:g.46739730C>G	ENSP00000304891:p.Glu41Gln			Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.E41Q	ENST00000306448.4	37	c.121	CCDS1826.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641013	0.87859	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89105	0.3492	9	0.87932	D	0	-29.3548	14.9112	0.70758	0.0:1.0:0.0:0.0	.	41	Q96A05	VATE2_HUMAN	Q	41	.	ENSP00000304891:E41Q	E	-	1	0	ATP6V1E2	46593234	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.259000	0.78381	2.636000	0.89361	0.655000	0.94253	GAG	ATP6V1E2	-	pfam_ATPase_V1/A1-cplx_esu	ENSG00000250565		0.433	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E2	HGNC	protein_coding	OTTHUMT00000250753.1	116	0.00	0	C	NM_080653		46739730	46739730	-1	no_errors	ENST00000306448	ensembl	human	known	69_37n	missense	69	32.35	33	SNP	1.000	G
ATP6V1G3	127124	genome.wustl.edu	37	1	198492671	198492671	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:198492671G>C	ENST00000367382.1	-	3	291	c.207C>G	c.(205-207)ctC>ctG	p.L69L	ATP6V1G3_ENST00000281087.2_Silent_p.L69L|ATP6V1G3_ENST00000367381.1_Silent_p.L75L|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Silent_p.L75L			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	69					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTTCATCTGAGAGATTATTCT	0.343																																						dbGAP											0													172.0	152.0	159.0					1																	198492671		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.207C>G	1.37:g.198492671G>C			Q495K2|Q495K4|Q5T9L6	Silent	SNP	pfam_V-ATPase_G,tigrfam_V-ATPase_G	p.L75	ENST00000367382.1	37	c.225	CCDS1395.1	1																																																																																			ATP6V1G3	-	pfam_V-ATPase_G,tigrfam_V-ATPase_G	ENSG00000151418		0.343	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G3	HGNC	protein_coding	OTTHUMT00000086559.1	146	0.00	0	G	NM_133326		198492671	198492671	-1	no_errors	ENST00000367381	ensembl	human	known	69_37n	silent	155	23.65	48	SNP	0.000	C
ATP7A	538	genome.wustl.edu	37	X	77294443	77294443	+	Missense_Mutation	SNP	G	G	C	rs141535376	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:77294443G>C	ENST00000341514.6	+	18	3776	c.3621G>C	c.(3619-3621)gaG>gaC	p.E1207D	ATP7A_ENST00000350425.4_Missense_Mutation_p.E210D|ATP7A_ENST00000343533.5_Missense_Mutation_p.E1129D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1207					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGAACATGAGAGAAAAGGTC	0.333																																						dbGAP											0													153.0	141.0	145.0					X																	77294443		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3621G>C	X.37:g.77294443G>C	ENSP00000345728:p.Glu1207Asp		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.E1207D	ENST00000341514.6	37	c.3621	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735207	0.48939	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.86956	-2.19;-2.19;-2.19	4.57	1.39	0.22231	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.114120	0.64402	D	0.000016	D	0.86289	0.5897	L	0.58101	1.795	0.53688	D	0.999979	P	0.36959	0.575	P	0.45881	0.496	T	0.81684	-0.0821	10	0.72032	D	0.01	-13.1351	8.0927	0.30809	0.2929:0.0:0.7071:0.0	.	1207	Q04656	ATP7A_HUMAN	D	1129;210;1207	ENSP00000343026:E1129D;ENSP00000343678:E210D;ENSP00000345728:E1207D	ENSP00000345728:E1207D	E	+	3	2	ATP7A	77181099	1.000000	0.71417	0.985000	0.45067	0.294000	0.27393	2.091000	0.41691	-0.204000	0.10235	-0.296000	0.09543	GAG	ATP7A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000165240		0.333	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	93	0.00	0	G	NM_000052		77294443	77294443	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	C
ATP9A	10079	genome.wustl.edu	37	20	50234064	50234064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:50234064G>A	ENST00000338821.5	-	22	2644	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	ATP9A_ENST00000311637.5_Nonsense_Mutation_p.Q658*|ATP9A_ENST00000402822.1_Nonsense_Mutation_p.Q673*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	794					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAGATTCCTGAATCATGCTG	0.483																																						dbGAP											0													126.0	79.0	95.0					20																	50234064		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2380C>T	20.37:g.50234064G>A	ENSP00000342481:p.Gln794*		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.Q794*	ENST00000338821.5	37	c.2380	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.635991	0.99226	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.7308	18.6016	0.91249	0.0:0.0:1.0:0.0	.	.	.	.	X	658;794;673	.	ENSP00000309086:Q658X	Q	-	1	0	ATP9A	49667471	1.000000	0.71417	0.993000	0.49108	0.712000	0.41017	9.333000	0.96459	2.374000	0.81015	0.511000	0.50034	CAG	ATP9A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000054793		0.483	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	50	0.00	0	G	NM_006045		50234064	50234064	-1	no_errors	ENST00000338821	ensembl	human	known	69_37n	nonsense	26	18.75	6	SNP	1.000	A
AURKC	6795	genome.wustl.edu	37	19	57743477	57743477	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:57743477C>T	ENST00000302804.7	+	3	367	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	AURKC_ENST00000598785.1_Missense_Mutation_p.R27W|AURKC_ENST00000599062.1_Missense_Mutation_p.R58W|AURKC_ENST00000448930.1_Missense_Mutation_p.R27W|AURKC_ENST00000415300.2_Missense_Mutation_p.R42W	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTACCTGGCTCGGCTCAAGGA	0.537																																						dbGAP											0													63.0	55.0	58.0					19																	57743477		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.181C>T	19.37:g.57743477C>T	ENSP00000302898:p.Arg61Trp		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R61W	ENST00000302804.7	37	c.181	CCDS33128.1	19	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751354	0.49257	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.09163	3.01;3.01;3.01	3.79	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.72118	2.19	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01480	-1.1344	10	0.87932	D	0	-9.5275	4.8226	0.13398	0.2109:0.6795:0.0:0.1095	.	58;61;42	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	W	42;27;61	ENSP00000407162:R42W;ENSP00000406798:R27W;ENSP00000302898:R61W	ENSP00000302898:R61W	R	+	1	2	AURKC	62435289	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	3.628000	0.54259	1.191000	0.43056	-0.266000	0.10368	CGG	AURKC	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105146		0.537	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	39	0.00	0	C	NM_003160		57743477	57743477	+1	no_errors	ENST00000302804	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	T
AVIL	10677	genome.wustl.edu	37	12	58203467	58203467	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:58203467G>C	ENST00000257861.3	-	8	1282	c.852C>G	c.(850-852)atC>atG	p.I284M	AVIL_ENST00000537081.1_Missense_Mutation_p.I277M	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	284	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTTGGTCCAGGATGTAGCAGT	0.493																																						dbGAP											0													152.0	134.0	140.0					12																	58203467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.852C>G	12.37:g.58203467G>C	ENSP00000257861:p.Ile284Met		B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.I284M	ENST00000257861.3	37	c.852	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844429	0.51164	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.60299	0.2;0.2	4.44	2.59	0.31030	Gelsolin domain (1);	0.111505	0.64402	D	0.000015	T	0.79100	0.4389	H	0.96398	3.815	0.42961	D	0.994404	D;D	0.76494	0.999;0.992	D;D	0.72625	0.978;0.964	T	0.78150	-0.2316	10	0.87932	D	0	-22.5838	5.6394	0.17554	0.1751:0.0:0.6646:0.1603	.	277;284	O75366-2;O75366	.;AVIL_HUMAN	M	277;284	ENSP00000443207:I277M;ENSP00000257861:I284M	ENSP00000257861:I284M	I	-	3	3	AVIL	56489734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.529000	0.35996	0.607000	0.29982	-0.310000	0.09108	ATC	AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000135407		0.493	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	155	0.00	0	G	NM_006576		58203467	58203467	-1	no_errors	ENST00000257861	ensembl	human	known	69_37n	missense	125	14.29	21	SNP	0.995	C
AXDND1	126859	genome.wustl.edu	37	1	179354475	179354475	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:179354475G>C	ENST00000367618.3	+	9	1231	c.844G>C	c.(844-846)Gaa>Caa	p.E282Q	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E282Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	282										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACAGAGGAGAACTTCTGTC	0.353																																						dbGAP											0													182.0	179.0	180.0					1																	179354475		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.844G>C	1.37:g.179354475G>C	ENSP00000356590:p.Glu282Gln		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.E282Q	ENST00000367618.3	37	c.844	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086337	0.55861	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.50813	2.04;0.73;2.05	5.71	4.78	0.61160	.	0.115026	0.64402	N	0.000014	T	0.47210	0.1433	L	0.38175	1.15	0.31993	N	0.604328	P;P;B	0.41475	0.751;0.54;0.312	P;P;B	0.48677	0.532;0.586;0.175	T	0.53173	-0.8476	10	0.21540	T	0.41	-0.254	14.3247	0.66512	0.0:0.1496:0.8504:0.0	.	240;282;282	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	282;240;282;216	ENSP00000356590:E282Q;ENSP00000416712:E282Q;ENSP00000391716:E216Q	ENSP00000353471:E240Q	E	+	1	0	AXDND1	177621098	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	3.210000	0.51129	1.379000	0.46325	0.655000	0.94253	GAA	AXDND1	-	pfam_Axonemal_dynein_light_chain	ENSG00000162779		0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	93	0.00	0	G	NM_144696		179354475	179354475	+1	no_errors	ENST00000367618	ensembl	human	known	69_37n	missense	111	18.84	26	SNP	1.000	C
B3GALTL	145173	genome.wustl.edu	37	13	31803344	31803344	+	Silent	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:31803344C>A	ENST00000343307.4	+	4	332	c.183C>A	c.(181-183)gtC>gtA	p.V61V		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	61					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTGTATTCGTCATCCAGAGTC	0.303																																						dbGAP											0													46.0	46.0	46.0					13																	31803344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.183C>A	13.37:g.31803344C>A			A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	pfam_Fringe-like	p.V61	ENST00000343307.4	37	c.183	CCDS9341.1	13																																																																																			B3GALTL	-	NULL	ENSG00000187676		0.303	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	50	0.00	0	C	NM_194318		31803344	31803344	+1	no_errors	ENST00000343307	ensembl	human	known	69_37n	silent	52	19.70	13	SNP	1.000	A
BAG4	9530	genome.wustl.edu	37	8	38067752	38067752	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:38067752C>T	ENST00000287322.4	+	5	1386	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	BAG4_ENST00000432471.2_Missense_Mutation_p.S336L	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	372					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGTGTACCTTCAGATGAAAGT	0.408																																						dbGAP											0													76.0	66.0	70.0					8																	38067752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1115C>T	8.37:g.38067752C>T	ENSP00000287322:p.Ser372Leu		B4E217|O95818	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.S372L	ENST00000287322.4	37	c.1115	CCDS6104.1	8	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111927	0.56398	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	T;T	0.70399	-0.48;-0.48	5.04	5.04	0.67666	.	0.548889	0.17882	N	0.158837	T	0.61899	0.2384	L	0.32530	0.975	0.35542	D	0.80314	B;P	0.41673	0.164;0.759	B;B	0.37943	0.055;0.261	T	0.73799	-0.3869	10	0.59425	D	0.04	-2.8034	15.9668	0.79979	0.0:1.0:0.0:0.0	.	336;372	B4E217;O95429	.;BAG4_HUMAN	L	336;372	ENSP00000393298:S336L;ENSP00000287322:S372L	ENSP00000287322:S372L	S	+	2	0	BAG4	38186909	0.011000	0.17503	0.972000	0.41901	0.474000	0.32979	2.135000	0.42112	2.500000	0.84329	0.552000	0.68991	TCA	BAG4	-	NULL	ENSG00000156735		0.408	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG4	HGNC	protein_coding	OTTHUMT00000377038.2	43	0.00	0	C	NM_004874		38067752	38067752	+1	no_errors	ENST00000287322	ensembl	human	known	69_37n	missense	18	43.75	14	SNP	0.988	T
BBS12	166379	genome.wustl.edu	37	4	123664136	123664136	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:123664136C>T	ENST00000314218.3	+	2	1282	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	BBS12_ENST00000542236.1_Silent_p.L363L	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	363					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGGGTGACCTCACAGAGAATT	0.413									Bardet-Biedl syndrome																													dbGAP											0													61.0	59.0	60.0					4																	123664136		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1089C>T	4.37:g.123664136C>T			D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L363	ENST00000314218.3	37	c.1089	CCDS3728.1	4																																																																																			BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000181004		0.413	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	66	0.00	0	C	NM_152618		123664136	123664136	+1	no_errors	ENST00000314218	ensembl	human	known	69_37n	silent	57	31.76	27	SNP	0.991	T
BBX	56987	genome.wustl.edu	37	3	107492312	107492312	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:107492312G>A	ENST00000325805.8	+	11	2031	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	BBX_ENST00000402543.1_Missense_Mutation_p.D582N|BBX_ENST00000415149.2_Missense_Mutation_p.D582N|BBX_ENST00000406780.1_Missense_Mutation_p.D582N|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	582					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CCCTATGGAAGATGCACTACC	0.463																																						dbGAP											0													93.0	89.0	90.0					3																	107492312		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1744G>A	3.37:g.107492312G>A	ENSP00000319974:p.Asp582Asn		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D582N	ENST00000325805.8	37	c.1744	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517517	0.44763	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	6.07	6.07	0.98685	.	0.382934	0.34268	N	0.004105	T	0.41719	0.1171	N	0.19112	0.55	0.58432	D	0.999997	B;B;B	0.33000	0.266;0.393;0.184	B;B;B	0.35770	0.092;0.21;0.053	T	0.38222	-0.9671	10	0.87932	D	0	-3.2911	20.6525	0.99598	0.0:0.0:1.0:0.0	.	582;582;582	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	N	582	ENSP00000408358:D582N;ENSP00000385317:D582N;ENSP00000319974:D582N;ENSP00000385530:D582N	ENSP00000319974:D582N	D	+	1	0	BBX	108975002	1.000000	0.71417	0.627000	0.29227	0.127000	0.20565	5.647000	0.67923	2.890000	0.99128	0.585000	0.79938	GAT	BBX	-	NULL	ENSG00000114439		0.463	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	35	0.00	0	G	NM_020235		107492312	107492312	+1	no_errors	ENST00000325805	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	1.000	A
BCAP29	55973	genome.wustl.edu	37	7	107254145	107254145	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:107254145G>A	ENST00000005259.4	+	7	1029				BCAP29_ENST00000445771.2_Missense_Mutation_p.G246D|BCAP29_ENST00000379119.2_Missense_Mutation_p.G246D|BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379121.2_Intron|BCAP29_ENST00000379117.2_Intron|BCAP29_ENST00000465919.1_Intron	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CACAAAAATGGCAGCATTGGA	0.363																																						dbGAP											0													86.0	90.0	89.0					7																	107254145		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.690+268G>A	7.37:g.107254145G>A			G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.G246D	ENST00000005259.4	37	c.737	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591610	0.28357	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	4.74	-4.76	0.03229	.	20.295200	0.00166	N	0.000000	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18650	-1.0330	9	0.87932	D	0	-0.7885	2.6389	0.04965	0.4731:0.1195:0.2858:0.1216	.	246	G5E9L4	.	D	246	.	ENSP00000368414:G246D	G	+	2	0	BCAP29	107041381	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.367000	0.02583	-1.000000	0.03438	-0.145000	0.13849	GGC	BCAP29	-	NULL	ENSG00000075790		0.363	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	92	0.00	0	G	NM_018844		107254145	107254145	+1	no_errors	ENST00000379119	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	0.000	A
BCAS1	8537	genome.wustl.edu	37	20	52574003	52574003	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:52574003C>T	ENST00000395961.3	-	10	1550	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371440.3_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	462						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTTATTTCTTCTGAGTGGGTG	0.443																																						dbGAP											0													232.0	190.0	204.0					20																	52574003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1384G>A	20.37:g.52574003C>T	ENSP00000379290:p.Glu462Lys		A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.E462K	ENST00000395961.3	37	c.1384	CCDS13444.1	20	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609888	0.87258	.	.	ENSG00000064787	ENST00000395961	T	0.12255	2.7	5.55	5.55	0.83447	.	.	.	.	.	T	0.36771	0.0979	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.04386	-1.0955	9	0.72032	D	0.01	.	16.656	0.85228	0.0:1.0:0.0:0.0	.	462;462	A0AVG7;O75363	.;BCAS1_HUMAN	K	462	ENSP00000379290:E462K	ENSP00000379290:E462K	E	-	1	0	BCAS1	52007410	0.998000	0.40836	0.986000	0.45419	0.996000	0.88848	4.702000	0.61817	2.605000	0.88082	0.561000	0.74099	GAA	BCAS1	-	NULL	ENSG00000064787		0.443	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	154	0.00	0	C	NM_003657		52574003	52574003	-1	no_errors	ENST00000395961	ensembl	human	known	69_37n	missense	128	13.51	20	SNP	0.989	T
BICC1	80114	genome.wustl.edu	37	10	60553331	60553331	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:60553331G>A	ENST00000373886.3	+	9	1139	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	BICC1_ENST00000263103.1_Missense_Mutation_p.D5N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	379					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGAACAGCTTGATGTCTTCAT	0.378																																						dbGAP											0													157.0	143.0	148.0					10																	60553331		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1135G>A	10.37:g.60553331G>A	ENSP00000362993:p.Asp379Asn			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.D379N	ENST00000373886.3	37	c.1135	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.074635	0.94000	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.67345	1.02;-0.26	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81763	0.4891	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77004	0.972;0.989	T	0.82499	-0.0427	10	0.87932	D	0	-20.7852	19.9664	0.97271	0.0:0.0:1.0:0.0	.	299;379	E7EU62;Q9H694	.;BICC1_HUMAN	N	379;5	ENSP00000362993:D379N;ENSP00000263103:D5N	ENSP00000263103:D5N	D	+	1	0	BICC1	60223337	1.000000	0.71417	0.964000	0.40570	0.855000	0.48748	9.731000	0.98807	2.718000	0.92993	0.655000	0.94253	GAT	BICC1	-	NULL	ENSG00000122870		0.378	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	93	0.00	0	G	NM_025044		60553331	60553331	+1	no_errors	ENST00000373886	ensembl	human	known	69_37n	missense	111	13.28	17	SNP	1.000	A
BIVM	54841	genome.wustl.edu	37	13	103459616	103459616	+	5'UTR	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:103459616C>T	ENST00000257336.1	+	0	678				BIVM_ENST00000491929.1_3'UTR|BIVM_ENST00000419638.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_5'Flank|BIVM_ENST00000448849.2_Intron	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing							cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACACTGCATTCAATGCCTAAC	0.358																																						dbGAP											0													51.0	50.0	50.0					13																	103459616		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.-2C>T	13.37:g.103459616C>T			Q2M1J2|Q9NXM4	RNA	SNP	-	NULL	ENST00000257336.1	37	NULL	CCDS9505.1	13																																																																																			BIVM	-	-	ENSG00000134897		0.358	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	28	0.00	0	C			103459616	103459616	+1	no_errors	ENST00000481069	ensembl	human	known	69_37n	rna	26	30.77	12	SNP	1.000	T
BPIFB3	359710	genome.wustl.edu	37	20	31644491	31644491	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:31644491G>A	ENST00000375494.3	+	2	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	90	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGCGTTGTCGAGGAGCTCTC	0.582																																						dbGAP											0													89.0	83.0	85.0					20																	31644491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.268G>A	20.37:g.31644491G>A	ENSP00000364643:p.Glu90Lys		Q5TDX7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.E90K	ENST00000375494.3	37	c.268	CCDS13212.1	20	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238200	0.01493	.	.	ENSG00000186190	ENST00000375494	T	0.04360	3.64	4.5	-5.52	0.02560	.	0.754568	0.11974	N	0.511404	T	0.03305	0.0096	L	0.51422	1.61	0.09310	N	1	B	0.21309	0.054	B	0.17979	0.02	T	0.50329	-0.8841	10	0.02654	T	1	-7.8418	7.2066	0.25911	0.247:0.4926:0.2604:0.0	.	90	P59826	BPIB3_HUMAN	K	90	ENSP00000364643:E90K	ENSP00000364643:E90K	E	+	1	0	BPIFB3	31108152	0.003000	0.15002	0.000000	0.03702	0.017000	0.09413	-0.080000	0.11339	-0.746000	0.04766	-1.099000	0.02127	GAG	BPIFB3	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000186190		0.582	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	106	0.00	0	G	NM_182658		31644491	31644491	+1	no_errors	ENST00000375494	ensembl	human	known	69_37n	missense	84	17.65	18	SNP	0.000	A
BPTF	2186	genome.wustl.edu	37	17	65850193	65850193	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:65850193G>A	ENST00000321892.4	+	2	812	c.751G>A	c.(751-753)Gag>Aag	p.E251K	BPTF_ENST00000306378.6_Missense_Mutation_p.E251K|BPTF_ENST00000424123.3_Missense_Mutation_p.E112K|BPTF_ENST00000335221.5_Missense_Mutation_p.E251K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	251	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCCATTTACGAGGTACTGCG	0.443																																						dbGAP											0													158.0	145.0	149.0					17																	65850193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.751G>A	17.37:g.65850193G>A	ENSP00000315454:p.Glu251Lys		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E251K	ENST00000321892.4	37	c.751		17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299365	0.81136	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.69040	-0.33;-0.37;-0.35	6.03	6.03	0.97812	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.	.	.	.	D	0.84579	0.5503	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	D	0.85287	0.1065	9	0.87932	D	0	-13.3463	20.5568	0.99304	0.0:0.0:1.0:0.0	.	251;251;251	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	156;251;251;251;112	ENSP00000307208:E251K;ENSP00000334351:E251K;ENSP00000315454:E251K	ENSP00000307208:E251K	E	+	1	0	BPTF	63280655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAG	BPTF	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000171634		0.443	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		110	0.00	0	G	NM_182641, NM_004459		65850193	65850193	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	157	15.14	28	SNP	1.000	A
BRCA2	675	genome.wustl.edu	37	13	32915015	32915015	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:32915015G>C	ENST00000380152.3	+	11	6756	c.6523G>C	c.(6523-6525)Gag>Cag	p.E2175Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E2175Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2175					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCACTTGTTGAGAACATTCA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													48.0	51.0	50.0					13																	32915015		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6523G>C	13.37:g.32915015G>C	ENSP00000369497:p.Glu2175Gln		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.E2175Q	ENST00000380152.3	37	c.6523	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114160	0.20795	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80123	-1.34;-1.34	5.21	3.42	0.39159	.	0.420938	0.22419	N	0.060307	T	0.77136	0.4086	M	0.65975	2.015	0.09310	N	1	P	0.45902	0.868	B	0.42319	0.383	T	0.69873	-0.5027	10	0.52906	T	0.07	.	8.5653	0.33536	0.3107:0.0:0.6893:0.0	.	2175	P51587	BRCA2_HUMAN	Q	2175	ENSP00000369497:E2175Q;ENSP00000439902:E2175Q	ENSP00000369497:E2175Q	E	+	1	0	BRCA2	31813015	0.701000	0.27806	0.011000	0.14972	0.352000	0.29268	1.387000	0.34430	1.169000	0.42739	0.491000	0.48974	GAG	BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	40	0.00	0	G	NM_000059		32915015	32915015	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	0.001	C
BRWD1	54014	genome.wustl.edu	37	21	40570906	40570906	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:40570906G>C	ENST00000333229.2	-	40	5763	c.5436C>G	c.(5434-5436)ttC>ttG	p.F1812L	BRWD1_ENST00000380800.3_Missense_Mutation_p.F1812L|BRWD1_ENST00000342449.3_Missense_Mutation_p.F1812L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1812					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTTTTAAAGAAACTCGCAT	0.383																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													121.0	122.0	122.0					21																	40570906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5436C>G	21.37:g.40570906G>C	ENSP00000330753:p.Phe1812Leu		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1812L	ENST00000333229.2	37	c.5436	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937275	0.02340	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.51325	0.71;0.72;0.79	5.48	1.26	0.21427	.	1.330890	0.04624	N	0.402450	T	0.31857	0.0810	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16100	-1.0414	10	0.09084	T	0.74	2.1411	5.2177	0.15352	0.0691:0.2265:0.4838:0.2205	.	1812;1812	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	1812	ENSP00000330753:F1812L;ENSP00000344333:F1812L;ENSP00000370178:F1812L	ENSP00000330753:F1812L	F	-	3	2	BRWD1	39492776	0.000000	0.05858	0.249000	0.24280	0.326000	0.28443	-0.334000	0.07883	0.627000	0.30340	0.655000	0.94253	TTC	BRWD1	-	NULL	ENSG00000185658		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	89	0.00	0	G	NM_033656		40570906	40570906	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	58	20.55	15	SNP	0.005	C
BSN	8927	genome.wustl.edu	37	3	49693239	49693239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:49693239G>T	ENST00000296452.4	+	5	6364	c.6250G>T	c.(6250-6252)Gag>Tag	p.E2084*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2084					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGCTTCCAGGAGGCCAGCCT	0.612																																						dbGAP											0													57.0	58.0	58.0					3																	49693239		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6250G>T	3.37:g.49693239G>T	ENSP00000296452:p.Glu2084*		O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E2084*	ENST00000296452.4	37	c.6250	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	46	12.573230	0.99679	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.47	5.47	0.80525	.	0.103091	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.455	19.3268	0.94265	0.0:0.0:1.0:0.0	.	.	.	.	X	2084	.	ENSP00000296452:E2084X	E	+	1	0	BSN	49668243	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.868000	0.87116	2.561000	0.86390	0.650000	0.86243	GAG	BSN	-	NULL	ENSG00000164061		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	24	0.00	0	G	NM_003458		49693239	49693239	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	nonsense	13	18.75	3	SNP	1.000	T
BST1	683	genome.wustl.edu	37	4	15720590	15720590	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:15720590C>G	ENST00000265016.4	+	7	960	c.765C>G	c.(763-765)ttC>ttG	p.F255L	BST1_ENST00000382346.3_Missense_Mutation_p.F270L	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	255					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ACATGGGGTTCCAGTACAGCT	0.433																																						dbGAP											0													123.0	118.0	120.0					4																	15720590		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.765C>G	4.37:g.15720590C>G	ENSP00000265016:p.Phe255Leu		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.F255L	ENST00000265016.4	37	c.765	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.514992|2.514992	0.44763|0.44763	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445|ENST00000505785;ENST00000514989	T;T;T|.	0.12569|.	2.67;2.67;2.67|.	4.75|4.75	1.42|1.42	0.22433|0.22433	NAD(P)-binding domain (1);|.	0.178104|.	0.49305|.	D|.	0.000149|.	T|T	0.53334|0.53334	0.1790|0.1790	L|L	0.47190|0.47190	1.495|1.495	0.46798|0.46798	D|D	0.9992|0.9992	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.55161|.	0.77;0.77|.	T|T	0.40646|0.40646	-0.9552|-0.9552	10|5	0.20046|.	T|.	0.44|.	-33.7587|-33.7587	7.6219|7.6219	0.28189|0.28189	0.0:0.7476:0.0:0.2524|0.0:0.7476:0.0:0.2524	.|.	270;255|.	A6NC48;Q10588|.	.;BST1_HUMAN|.	L|C	255;270;105|151;63	ENSP00000265016:F255L;ENSP00000371783:F270L;ENSP00000420925:F105L|.	ENSP00000265016:F255L|.	F|S	+|+	3|2	2|0	BST1|BST1	15329688|15329688	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.778000|0.778000	0.44026|0.44026	-0.002000|-0.002000	0.12924|0.12924	0.194000|0.194000	0.20326|0.20326	0.650000|0.650000	0.86243|0.86243	TTC|TCC	BST1	-	pfam_ADP-ribosyl_cyclase	ENSG00000109743		0.433	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	93	0.00	0	C	NM_004334		15720590	15720590	+1	no_errors	ENST00000265016	ensembl	human	known	69_37n	missense	77	16.30	15	SNP	1.000	G
C10orf12	26148	genome.wustl.edu	37	10	98741670	98741670	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:98741670G>C	ENST00000286067.2	+	1	630	c.523G>C	c.(523-525)Gag>Cag	p.E175Q		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	175										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATGCCACTTTGAGAATCAAAA	0.388																																						dbGAP											0													78.0	76.0	77.0					10																	98741670		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.523G>C	10.37:g.98741670G>C	ENSP00000286067:p.Glu175Gln		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.E175Q	ENST00000286067.2	37	c.523	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787259	0.70337	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.18657	2.2	5.95	5.95	0.96441	.	0.000000	0.50627	D	0.000111	T	0.35970	0.0950	N	0.24115	0.695	0.40075	D	0.976067	D;D	0.71674	0.998;0.998	D;D	0.71870	0.975;0.975	T	0.14783	-1.0460	10	0.87932	D	0	-15.2981	20.3712	0.98891	0.0:0.0:1.0:0.0	.	9;175	A0PJI9;Q8N655	.;CJ012_HUMAN	Q	175;9	ENSP00000286067:E175Q	ENSP00000286067:E175Q	E	+	1	0	C10orf12	98731660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.526000	0.73799	2.822000	0.97130	0.655000	0.94253	GAG	C10orf12	-	NULL	ENSG00000155640		0.388	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	29	0.00	0	G	NM_015652		98741670	98741670	+1	no_errors	ENST00000286067	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	1.000	C
BTRC	8945	genome.wustl.edu	37	10	103285793	103285793	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:103285793G>C	ENST00000370187.3	+	6	698	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	BTRC_ENST00000408038.2_Missense_Mutation_p.E158Q|BTRC_ENST00000393441.4_Missense_Mutation_p.E153Q	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	194	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.|Required for down-regulation of SNAI1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TCATATTGCTGAGAACATTCT	0.448																																						dbGAP											0													133.0	103.0	113.0					10																	103285793		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.580G>C	10.37:g.103285793G>C	ENSP00000359206:p.Glu194Gln		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E194Q	ENST00000370187.3	37	c.580	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783900	0.70222	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.41065	1.01;1.01;1.01;1.78	5.54	5.54	0.83059	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.986;0.983;1.0	P;P;D	0.91635	0.873;0.724;0.999	T	0.58188	-0.7680	10	0.23891	T	0.37	-16.0169	19.4875	0.95035	0.0:0.0:1.0:0.0	.	168;158;194	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	Q	194;153;158;176	ENSP00000359206:E194Q;ENSP00000377088:E153Q;ENSP00000385339:E158Q;ENSP00000359202:E176Q	ENSP00000359202:E176Q	E	+	1	0	BTRC	103275783	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.615000	0.88500	0.655000	0.94253	GAG	BTRC	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	ENSG00000166167		0.448	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	66	0.00	0	G	NM_033637		103285793	103285793	+1	no_errors	ENST00000370187	ensembl	human	known	69_37n	missense	57	28.75	23	SNP	1.000	C
EDRF1	26098	genome.wustl.edu	37	10	127412419	127412419	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:127412419C>T	ENST00000356792.4	+	4	656	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	C10orf137_ENST00000337623.3_Missense_Mutation_p.H142Y	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCAAGTCGCACGTGAGCAT	0.358																																						dbGAP											0													117.0	125.0	123.0					10																	127412419		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000356792.4:c.424C>T	10.37:g.127412419C>T	ENSP00000349244:p.His142Tyr		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	NULL	p.H142Y	ENST00000356792.4	37	c.424	CCDS55733.1	10	.	.	.	.	.	.	.	.	.	.	C	8.079	0.772059	0.16051	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.72	5.72	0.89469	.	0.099640	0.64402	D	0.000002	T	0.65015	0.2651	L	0.39898	1.24	0.58432	D	0.999996	B;D;B	0.67145	0.004;0.996;0.004	B;D;B	0.75484	0.004;0.986;0.004	T	0.56625	-0.7948	9	0.02654	T	1	.	18.0576	0.89367	0.0:1.0:0.0:0.0	.	142;142;142	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	Y	142	.	ENSP00000336727:H142Y	H	+	1	0	C10orf137	127402409	1.000000	0.71417	0.756000	0.31282	0.883000	0.51084	7.487000	0.81328	2.696000	0.92011	0.650000	0.86243	CAC	C10orf137	-	NULL	ENSG00000107938		0.358	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	C10orf137	HGNC	protein_coding	OTTHUMT00000388539.1	63	0.00	0	C			127412419	127412419	+1	no_errors	ENST00000356792	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.996	T
C11orf48	79081	genome.wustl.edu	37	11	62437402	62437402	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:62437402G>C	ENST00000431002.2	-	1	1835	c.102C>G	c.(100-102)ctC>ctG	p.L34L	C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Silent_p.L34L|C11orf83_ENST00000377953.3_5'Flank|C11orf48_ENST00000354588.3_Silent_p.L34L			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	34										endometrium(1)|lung(5)|urinary_tract(1)	7						CTCTGTCCCAGAGAGGGTTGG	0.557																																						dbGAP											0													117.0	108.0	111.0					11																	62437402		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.102C>G	11.37:g.62437402G>C			Q96NA4	Silent	SNP	NULL	p.L34	ENST00000431002.2	37	c.102		11																																																																																			C11orf48	-	NULL	ENSG00000162194		0.557	C11orf48-004	KNOWN	basic	protein_coding	C11orf48	HGNC	protein_coding	OTTHUMT00000395233.1	114	0.00	0	G	NM_024099		62437402	62437402	-1	no_errors	ENST00000431002	ensembl	human	known	69_37n	silent	40	45.21	33	SNP	0.000	C
C11orf63	79864	genome.wustl.edu	37	11	122756560	122756560	+	Start_Codon_SNP	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:122756560G>C	ENST00000531316.1	+	1	95	c.3G>C	c.(1-3)atG>atC	p.M1I	C11orf63_ENST00000307257.6_Start_Codon_SNP_p.M1I|C11orf63_ENST00000227349.2_Start_Codon_SNP_p.M1I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	1					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTTTCAAGATGAGTAAACGTA	0.383																																						dbGAP											0													58.0	61.0	60.0					11																	122756560		2202	4299	6501	-	-	-	SO:0001582	initiator_codon_variant	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.3G>C	11.37:g.122756560G>C	ENSP00000431669:p.Met1Ile		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.M1I	ENST00000531316.1	37	c.3	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101828	0.56183	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.52754	0.65;0.65	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000008	T	0.69637	0.3133	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.72571	-0.4253	9	0.87932	D	0	-20.9146	15.5631	0.76266	0.0:0.0:1.0:0.0	.	1;1	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	I	1	ENSP00000227349:M1I;ENSP00000431669:M1I	ENSP00000227349:M1I	M	+	3	0	C11orf63	122261770	1.000000	0.71417	0.987000	0.45799	0.319000	0.28217	3.869000	0.56062	2.735000	0.93741	0.655000	0.94253	ATG	C11orf63	-	NULL	ENSG00000109944		0.383	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	36	0.00	0	G	NM_024806	Missense_Mutation	122756560	122756560	+1	no_errors	ENST00000227349	ensembl	human	known	69_37n	missense	13	41.67	10	SNP	1.000	C
C14orf93	60686	genome.wustl.edu	37	14	23457139	23457139	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:23457139C>G	ENST00000299088.6	-	6	1599	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.E210D|C14orf93_ENST00000341470.4_Missense_Mutation_p.E390D|C14orf93_ENST00000397382.4_Missense_Mutation_p.E390D|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.E390D|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.E390D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	390						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GAAGTTTCTTCTCCTCTTTTT	0.502																																						dbGAP											0													106.0	104.0	104.0					14																	23457139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1170G>C	14.37:g.23457139C>G	ENSP00000299088:p.Glu390Asp		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	NULL	p.E390D	ENST00000299088.6	37	c.1170	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505613	0.44558	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.17	1.29	0.21616	.	0.000000	0.64402	D	0.000008	T	0.23210	0.0561	N	0.08118	0	0.31588	N	0.654225	B;B	0.09022	0.002;0.002	B;B	0.12156	0.004;0.007	T	0.08066	-1.0740	10	0.59425	D	0.04	-32.0389	5.2326	0.15430	0.0:0.5373:0.1505:0.3123	.	390;390	Q9H972;Q9H972-2	CN093_HUMAN;.	D	390;390;390;390;210;390	ENSP00000299088:E390D;ENSP00000341353:E390D;ENSP00000380535:E390D;ENSP00000380538:E390D;ENSP00000380533:E210D;ENSP00000384768:E390D	ENSP00000299088:E390D	E	-	3	2	C14orf93	22526979	0.998000	0.40836	0.998000	0.56505	0.999000	0.98932	0.317000	0.19487	-0.031000	0.13781	0.645000	0.84053	GAG	C14orf93	-	NULL	ENSG00000100802		0.502	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	71	0.00	0	C	NM_021944		23457139	23457139	-1	no_errors	ENST00000299088	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	G
C15orf53	400359	genome.wustl.edu	37	15	38990571	38990571	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:38990571C>T	ENST00000318792.1	+	2	375	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	122										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GAAGTGGCTTCCAGCCCCTCC	0.542																																						dbGAP											0													49.0	50.0	49.0					15																	38990571		2200	4297	6497	-	-	-	SO:0001583	missense	0				CCDS10048.1	15q14	2007-11-21			ENSG00000175779	ENSG00000175779			33796	protein-coding gene	gene with protein product							Standard	NM_207444		Approved	FLJ35695	uc001zkf.1	Q8NAA6	OTTHUMG00000129841	ENST00000318792.1:c.365C>T	15.37:g.38990571C>T	ENSP00000325144:p.Ser122Phe			Missense_Mutation	SNP	NULL	p.S122F	ENST00000318792.1	37	c.365	CCDS10048.1	15	.	.	.	.	.	.	.	.	.	.	C	9.240	1.038046	0.19669	.	.	ENSG00000175779	ENST00000318792	T	0.38560	1.13	2.89	1.97	0.26223	.	.	.	.	.	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	P	0.35107	0.484	B	0.30179	0.112	T	0.12268	-1.0554	9	0.87932	D	0	.	5.6806	0.17774	0.0:0.848:0.0:0.152	.	122	Q8NAA6	CO053_HUMAN	F	122	ENSP00000325144:S122F	ENSP00000325144:S122F	S	+	2	0	C15orf53	36777863	0.003000	0.15002	0.005000	0.12908	0.012000	0.07955	0.647000	0.24812	0.786000	0.33708	0.313000	0.20887	TCC	C15orf53	-	NULL	ENSG00000175779		0.542	C15orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf53	HGNC	protein_coding	OTTHUMT00000252081.1	44	0.00	0	C	NM_207444		38990571	38990571	+1	no_errors	ENST00000318792	ensembl	human	known	69_37n	missense	23	22.58	7	SNP	0.005	T
C15orf40	123207	genome.wustl.edu	37	15	83677321	83677321	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:83677321C>A	ENST00000513601.2	-	3	352	c.345G>T	c.(343-345)aaG>aaT	p.K115N	RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Missense_Mutation_p.K115N|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000304177.5_Missense_Mutation_p.K88N|C15orf40_ENST00000451195.3_Missense_Mutation_p.K115N			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	115										large_intestine(3)|lung(2)|skin(1)	6						CCACATCACTCTTCCTGAGTT	0.473																																						dbGAP											0													101.0	90.0	94.0					15																	83677321		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.345G>T	15.37:g.83677321C>A	ENSP00000424666:p.Lys115Asn		A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	pfam_DUF167,superfamily_DUF167	p.K115N	ENST00000513601.2	37	c.345	CCDS32312.2	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509311	0.85282	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	.	.	.	5.54	5.54	0.83059	.	0.094319	0.64402	D	0.000001	D	0.86756	0.6009	M	0.93016	3.37	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.986;0.994;0.983;0.976	D	0.89263	0.3599	9	0.87932	D	0	-12.2852	19.8453	0.96705	0.0:1.0:0.0:0.0	.	88;115;115;115	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	N	115;115;88;115	.	ENSP00000307071:K88N	K	-	3	2	C15orf40	81468325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.297000	0.59061	2.754000	0.94517	0.655000	0.94253	AAG	C15orf40	-	pfam_DUF167,superfamily_DUF167	ENSG00000169609		0.473	C15orf40-001	KNOWN	basic|CCDS	protein_coding	C15orf40	HGNC	protein_coding	OTTHUMT00000360737.2	43	0.00	0	C	NM_144597		83677321	83677321	-1	no_errors	ENST00000451195	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	A
C19orf45	374877	genome.wustl.edu	37	19	7570273	7570273	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:7570273C>T	ENST00000361664.2	+	5	987	c.846C>T	c.(844-846)ctC>ctT	p.L282L	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	282										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGACGGCCTCTTCCGCGACA	0.597																																						dbGAP											0													81.0	77.0	78.0					19																	7570273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.846C>T	19.37:g.7570273C>T			Q8N115	Silent	SNP	NULL	p.L282	ENST00000361664.2	37	c.846	CCDS12179.2	19																																																																																			C19orf45	-	NULL	ENSG00000198723		0.597	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf45	HGNC	protein_coding	OTTHUMT00000347808.1	29	0.00	0	C	NM_198534		7570273	7570273	+1	no_errors	ENST00000361664	ensembl	human	known	69_37n	silent	14	37.50	9	SNP	0.244	T
C1GALT1	56913	genome.wustl.edu	37	7	7283329	7283329	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:7283329G>C	ENST00000223122.3	+	3	1125	c.1063G>C	c.(1063-1065)Gat>Cat	p.D355H	C1GALT1_ENST00000436587.2_Missense_Mutation_p.D355H			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	355					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CAAAAATGAAGATACAAAAGT	0.338																																						dbGAP											0													74.0	72.0	73.0					7																	7283329		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.1063G>C	7.37:g.7283329G>C	ENSP00000223122:p.Asp355His		Q96QH4|Q9BTU1	Missense_Mutation	SNP	pfam_Fringe-like,pfam_Glyco_trans_31	p.D355H	ENST00000223122.3	37	c.1063	CCDS5355.1	7	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383623	0.25031	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.57107	0.42;0.42	4.87	3.98	0.46160	.	0.289946	0.29466	N	0.012072	T	0.37544	0.1007	N	0.22421	0.69	0.30512	N	0.769378	B	0.25441	0.126	B	0.27380	0.079	T	0.40572	-0.9556	10	0.46703	T	0.11	-17.2379	9.6353	0.39804	0.0784:0.0:0.7723:0.1494	.	355	Q9NS00	C1GLT_HUMAN	H	355	ENSP00000389176:D355H;ENSP00000223122:D355H	ENSP00000223122:D355H	D	+	1	0	C1GALT1	7249854	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	3.783000	0.55409	1.355000	0.45865	0.650000	0.86243	GAT	C1GALT1	-	NULL	ENSG00000106392		0.338	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1	HGNC	protein_coding	OTTHUMT00000324379.2	50	0.00	0	G	NM_020156		7283329	7283329	+1	no_errors	ENST00000223122	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.995	C
C1RL	51279	genome.wustl.edu	37	12	7249361	7249361	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:7249361C>T	ENST00000266542.4	-	6	1182	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAGAGGGTCTCATTATCGGGC	0.597																																						dbGAP											0													66.0	59.0	62.0					12																	7249361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1090G>A	12.37:g.7249361C>T	ENSP00000266542:p.Glu364Lys		Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E364K	ENST00000266542.4	37	c.1090	CCDS8573.1	12	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642637	0.47153	.	.	ENSG00000139178	ENST00000266542;ENST00000396661	D	0.88509	-2.39	4.98	3.1	0.35709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452401	0.22227	N	0.062866	D	0.88844	0.6547	L	0.49778	1.585	0.19575	N	0.999966	P	0.42649	0.786	P	0.54431	0.752	T	0.79102	-0.1941	10	0.37606	T	0.19	.	6.496	0.22142	0.0:0.672:0.1524:0.1756	.	364	Q9NZP8	C1RL_HUMAN	K	364	ENSP00000266542:E364K	ENSP00000266542:E364K	E	-	1	0	C1RL	7140503	0.058000	0.20735	0.134000	0.22075	0.164000	0.22412	1.408000	0.34668	0.653000	0.30826	0.511000	0.50034	GAG	C1RL	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000139178		0.597	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	34	0.00	0	C	NM_016546		7249361	7249361	-1	no_errors	ENST00000266542	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.028	T
MROH9	80133	genome.wustl.edu	37	1	170994466	170994466	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:170994466C>T	ENST00000367759.4	+	20	2340	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	CAGATTATTTCTCATAGGAAC	0.393																																						dbGAP											0													192.0	154.0	165.0					1																	170994466		692	1591	2283	-	-	-	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.2186C>T	1.37:g.170994466C>T	ENSP00000356733:p.Ser729Phe		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S729F	ENST00000367759.4	37	c.2186	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825127	0.50739	.	.	ENSG00000117501	ENST00000367759	T	0.67698	-0.28	5.34	1.13	0.20643	.	.	.	.	.	T	0.27419	0.0673	L	0.29908	0.895	0.09310	N	1	B	0.29508	0.246	B	0.28139	0.086	T	0.11616	-1.0580	9	0.39692	T	0.17	.	2.8009	0.05414	0.3228:0.4293:0.157:0.0909	.	729	F5GWX6	.	F	729	ENSP00000356733:S729F	ENSP00000356733:S729F	S	+	2	0	C1orf129	169261090	0.004000	0.15560	0.018000	0.16275	0.268000	0.26511	-0.003000	0.12901	0.739000	0.32628	0.462000	0.41574	TCT	C1orf129	-	superfamily_ARM-type_fold	ENSG00000117501		0.393	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf129	HGNC	protein_coding		116	0.00	0	C	NM_025063		170994466	170994466	+1	no_errors	ENST00000367759	ensembl	human	known	69_37n	missense	130	15.03	23	SNP	0.001	T
C1orf216	127703	genome.wustl.edu	37	1	36181601	36181601	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:36181601G>A	ENST00000270815.4	-	2	1092	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	108										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TTGTCCTCCAGAGGGGAGCAG	0.667											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													56.0	57.0	56.0					1																	36181601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.322C>T	1.37:g.36181601G>A		861	D3DPS1|Q8N8N6	Silent	SNP	NULL	p.L108	ENST00000270815.4	37	c.322	CCDS395.1	1																																																																																			C1orf216	-	NULL	ENSG00000142686		0.667	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf216	HGNC	protein_coding	OTTHUMT00000012013.3	26	0.00	0	G	NM_152374		36181601	36181601	-1	no_errors	ENST00000270815	ensembl	human	known	69_37n	silent	19	38.71	12	SNP	0.815	A
C1orf198	84886	genome.wustl.edu	37	1	230979431	230979431	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:230979431C>T	ENST00000366663.5	-	3	736	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	C1orf198_ENST00000470540.1_Missense_Mutation_p.R161Q|C1orf198_ENST00000523410.1_Missense_Mutation_p.R69Q|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	199						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCCTCCCCTCGGGACCGCTC	0.627																																						dbGAP											0													82.0	82.0	82.0					1																	230979431		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.596G>A	1.37:g.230979431C>T	ENSP00000355623:p.Arg199Gln		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.R199Q	ENST00000366663.5	37	c.596	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812883	0.70912	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.37584	1.34;1.35;1.19	4.61	4.61	0.57282	.	0.132651	0.45126	D	0.000389	T	0.46112	0.1376	L	0.60455	1.87	0.35783	D	0.821772	D	0.71674	0.998	P	0.62014	0.897	T	0.54662	-0.8260	10	0.30854	T	0.27	-29.8056	6.0147	0.19596	0.0:0.7512:0.0:0.2488	.	199	Q9H425	CA198_HUMAN	Q	199;161;69;156	ENSP00000355623:R199Q;ENSP00000428172:R161Q;ENSP00000430967:R69Q	ENSP00000355623:R199Q	R	-	2	0	C1orf198	229046054	1.000000	0.71417	0.999000	0.59377	0.654000	0.38779	3.678000	0.54627	2.100000	0.63781	0.462000	0.41574	CGA	C1orf198	-	NULL	ENSG00000119280		0.627	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	36	0.00	0	C	NM_032800		230979431	230979431	-1	no_errors	ENST00000366663	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	T
GNPAT	8443	genome.wustl.edu	37	1	231376866	231376866	+	5'Flank	SNP	C	C	T	rs552479895		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:231376866C>T	ENST00000366647.4	+	0	0				C1orf131_ENST00000366651.3_Missense_Mutation_p.D8N|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_Missense_Mutation_p.D8N|C1orf131_ENST00000366649.2_Missense_Mutation_p.D8N	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATTGTGGGGTCAGCCGAGGAA	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14805	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													88.0	90.0	89.0					1																	231376866		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231376866C>T	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	NULL	p.D8N	ENST00000366647.4	37	c.22	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825513	0.71143	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.50277	0.76;0.75;0.75	4.6	1.47	0.22746	.	2.448670	0.01436	N	0.014935	T	0.50803	0.1637	L	0.36672	1.1	0.09310	N	1	P;D;P;P;P	0.58268	0.557;0.982;0.557;0.557;0.557	B;P;B;B;B	0.52481	0.299;0.7;0.299;0.167;0.167	T	0.38134	-0.9675	10	0.87932	D	0	.	6.6127	0.22761	0.0:0.5538:0.3472:0.099	.	8;8;8;8;8	B4E0F7;Q8NDD1-4;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;.;CA131_HUMAN;.;.	N	8	ENSP00000355609:D8N;ENSP00000321341:D8N;ENSP00000355611:D8N	ENSP00000321341:D8N	D	-	1	0	C1orf131	229443489	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-0.161000	0.10026	0.538000	0.28769	0.555000	0.69702	GAC	C1orf131	-	NULL	ENSG00000143633		0.652	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	26	0.00	0	C			231376866	231376866	-1	no_errors	ENST00000366649	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.002	T
MROH8	140699	genome.wustl.edu	37	20	35731097	35731097	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:35731097G>C	ENST00000400441.3	-	24	3121	c.3122C>G	c.(3121-3123)tCt>tGt	p.S1041C	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.S870C			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TTTCTAGGCAGAGGACCTGCC	0.493																																						dbGAP											0													252.0	244.0	247.0					20																	35731097		1992	4169	6161	-	-	-	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.3122C>G	20.37:g.35731097G>C	ENSP00000383291:p.Ser1041Cys		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1041C	ENST00000400441.3	37	c.3122		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.900|9.900	1.206561|1.206561	0.22205|0.22205	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000400441;ENST00000217333	.|T;T	.|0.03717	.|4.33;3.83	5.32|5.32	1.72|1.72	0.24424|0.24424	.|.	.|1.670300	.|0.02941	.|N	.|0.140537	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;D	.|0.54047	.|0.964;0.961	.|B;P	.|0.47162	.|0.431;0.54	T|T	0.49303|0.49303	-0.8954|-0.8954	5|10	.|0.87932	.|D	.|0	1.4903|1.4903	11.6185|11.6185	0.51104|0.51104	0.0:0.0:0.518:0.482|0.0:0.0:0.518:0.482	.|.	.|1041;875	.|E7ETR9;Q9H579-2	.|.;.	V|C	1068|1041;870	.|ENSP00000383291:S1041C;ENSP00000217333:S870C	.|ENSP00000217333:S870C	L|S	-|-	1|2	2|0	C20orf132|C20orf132	35164511|35164511	0.635000|0.635000	0.27199|0.27199	0.149000|0.149000	0.22428|0.22428	0.019000|0.019000	0.09904|0.09904	0.730000|0.730000	0.26043|0.26043	0.538000|0.538000	0.28769|0.28769	0.555000|0.555000	0.69702|0.69702	CTG|TCT	C20orf132	-	NULL	ENSG00000101353		0.493	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		89	0.00	0	G	NM_152503		35731097	35731097	-1	no_errors	ENST00000400441	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	0.003	C
MROH8	140699	genome.wustl.edu	37	20	35731195	35731195	+	Silent	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:35731195G>T	ENST00000400441.3	-	24	3023	c.3024C>A	c.(3022-3024)atC>atA	p.I1008I	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Silent_p.I837I			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GGGAAGCGATGATGCACAGCG	0.537																																						dbGAP											0													185.0	179.0	181.0					20																	35731195		2034	4194	6228	-	-	-	SO:0001819	synonymous_variant	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.3024C>A	20.37:g.35731195G>T			Q5JYQ6	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1035*	ENST00000400441.3	37	c.3104		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.861|0.861	-0.735123|-0.735123	0.03111|0.03111	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000343811	.|.	.|.	.|.	5.57|5.57	4.61|4.61	0.57282|0.57282	.|.	.|.	.|.	.|.	.|.	T|.	0.63616|.	0.2526|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61850|.	-0.6978|.	4|.	.|.	.|.	.|.	-2.09|-2.09	12.0882|12.0882	0.53710|0.53710	0.0:0.1921:0.8079:0.0|0.0:0.1921:0.8079:0.0	.|.	.|.	.|.	.|.	N|X	636|1035	.|.	.|.	H|S	-|-	1|2	0|0	C20orf132|C20orf132	35164609|35164609	0.996000|0.996000	0.38824|0.38824	0.672000|0.672000	0.29872|0.29872	0.070000|0.070000	0.16714|0.16714	1.362000|1.362000	0.34148|0.34148	1.314000|1.314000	0.45095|0.45095	0.555000|0.555000	0.69702|0.69702	CAT|TCA	C20orf132	-	superfamily_ARM-type_fold	ENSG00000101353		0.537	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		71	0.00	0	G	NM_152503		35731195	35731195	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000343811	ensembl	human	known	69_37n	nonsense	52	11.86	7	SNP	0.972	T
C7	730	genome.wustl.edu	37	5	40981496	40981496	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:40981496G>A	ENST00000313164.9	+	18	2712	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	785	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TTTTCCAGCTGAGAGCAGCAA	0.478																																						dbGAP											0													47.0	47.0	47.0					5																	40981496		2025	4182	6207	-	-	-	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2353G>A	5.37:g.40981496G>A	ENSP00000322061:p.Glu785Lys		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.E785K	ENST00000313164.9	37	c.2353	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731756	0.48939	.	.	ENSG00000112936	ENST00000313164	T	0.62941	-0.01	5.83	3.07	0.35406	Factor I / membrane attack complex (1);	0.658532	0.15235	N	0.273201	T	0.50820	0.1638	N	0.22421	0.69	0.09310	N	0.999994	B	0.10296	0.003	B	0.10450	0.005	T	0.37979	-0.9682	10	0.41790	T	0.15	-2.2515	16.928	0.86182	0.0:0.6251:0.3749:0.0	.	785	P10643	CO7_HUMAN	K	785	ENSP00000322061:E785K	ENSP00000322061:E785K	E	+	1	0	C7	41017253	0.001000	0.12720	0.857000	0.33713	0.748000	0.42578	0.313000	0.19415	0.369000	0.24510	-0.344000	0.07964	GAG	C7	-	smart_FacI_MAC	ENSG00000112936		0.478	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	54	0.00	0	G			40981496	40981496	+1	no_errors	ENST00000313164	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.370	A
C5orf63	401207	genome.wustl.edu	37	5	126383590	126383590	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:126383590C>T	ENST00000606937.1	-	4	235	c.189G>A	c.(187-189)caG>caA	p.Q63Q	C5orf63_ENST00000535381.1_Silent_p.Q63Q			A6NC05	YD286_HUMAN	chromosome 5 open reading frame 63	63					oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)				endometrium(1)	1						CTGgcagcttctgatccttgt	0.483																																						dbGAP											0													142.0	133.0	136.0					5																	126383590		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK126569	CCDS54895.1, CCDS54896.1	5q23.2	2014-05-30			ENSG00000164241	ENSG00000164241			40051	protein-coding gene	gene with protein product							Standard	NM_001164478		Approved	YDR286C, FLJ44606	uc021ydc.1	A6NC05	OTTHUMG00000163037	ENST00000606937.1:c.189G>A	5.37:g.126383590C>T			G3V557	Silent	SNP	pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold	p.Q63	ENST00000606937.1	37	c.189	CCDS54895.1	5																																																																																			C5orf63	-	NULL	ENSG00000164241		0.483	C5orf63-004	KNOWN	basic|CCDS	protein_coding	C5orf63	HGNC	protein_coding	OTTHUMT00000470210.1	128	0.00	0	C	NM_001164478		126383590	126383590	-1	no_errors	ENST00000535381	ensembl	human	known	69_37n	silent	61	29.07	25	SNP	0.011	T
C7orf31	136895	genome.wustl.edu	37	7	25175643	25175643	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:25175643G>C	ENST00000409280.1	-	10	2029	c.1721C>G	c.(1720-1722)tCg>tGg	p.S574W	C7orf31_ENST00000283905.3_Missense_Mutation_p.S574W			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	574								p.S574L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTTCATCCCCGAATGCTCATT	0.383																																						dbGAP											1	Substitution - Missense(1)	skin(1)											99.0	98.0	98.0					7																	25175643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1721C>G	7.37:g.25175643G>C	ENSP00000386604:p.Ser574Trp		A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	NULL	p.S574W	ENST00000409280.1	37	c.1721	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896202	0.17686	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06608	3.28;3.28	5.41	-0.253	0.12996	.	1.214710	0.05797	N	0.611367	T	0.11965	0.0291	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.57960	0.83	T	0.22312	-1.0220	10	0.37606	T	0.19	-1.2471	1.6644	0.02799	0.3458:0.1136:0.3859:0.1546	.	574	Q8N865	CG031_HUMAN	W	574	ENSP00000386604:S574W;ENSP00000283905:S574W	ENSP00000283905:S574W	S	-	2	0	C7orf31	25142168	0.060000	0.20803	0.021000	0.16686	0.349000	0.29174	0.319000	0.19522	0.069000	0.16605	-0.224000	0.12420	TCG	C7orf31	-	NULL	ENSG00000153790		0.383	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	63	0.00	0	G	NM_138811		25175643	25175643	-1	no_errors	ENST00000283905	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	0.001	C
ERICH5	203111	genome.wustl.edu	37	8	99101660	99101660	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:99101660G>A	ENST00000318528.3	+	2	774	c.415G>A	c.(415-417)Gag>Aag	p.E139K	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		139										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AGCAGGGACAGAGGCCGAGTC	0.562																																						dbGAP											0													67.0	69.0	68.0					8																	99101660		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000318528.3:c.415G>A	8.37:g.99101660G>A	ENSP00000315614:p.Glu139Lys		G3V1K4|Q8N1L8	Missense_Mutation	SNP	NULL	p.E139K	ENST00000318528.3	37	c.415	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924727	0.34002	.	.	ENSG00000177459	ENST00000318528	T	0.56444	0.46	5.14	4.27	0.50696	.	0.445596	0.19339	N	0.116699	T	0.42877	0.1222	L	0.40543	1.245	0.23483	N	0.99758	B	0.26258	0.145	B	0.25614	0.062	T	0.39722	-0.9600	10	0.54805	T	0.06	-3.8145	9.657	0.39932	0.0932:0.0:0.9068:0.0	.	139	Q6P6B1	CH047_HUMAN	K	139	ENSP00000315614:E139K	ENSP00000315614:E139K	E	+	1	0	C8orf47	99170836	0.013000	0.17824	0.005000	0.12908	0.013000	0.08279	1.293000	0.33353	1.408000	0.46895	-0.137000	0.14449	GAG	C8orf47	-	NULL	ENSG00000177459		0.562	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	HGNC	protein_coding	OTTHUMT00000380465.1	31	0.00	0	G			99101660	99101660	+1	no_errors	ENST00000318528	ensembl	human	known	69_37n	missense	21	15.38	4	SNP	0.009	A
C9orf84	158401	genome.wustl.edu	37	9	114454003	114454003	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:114454003G>C	ENST00000318737.4	-	25	4190	c.4062C>G	c.(4060-4062)ttC>ttG	p.F1354L	C9orf84_ENST00000374287.3_Missense_Mutation_p.F1354L|C9orf84_ENST00000394777.4_Missense_Mutation_p.F1280L|C9orf84_ENST00000394779.3_Missense_Mutation_p.F1315L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1354										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTCTCTCCAGAAAGTCTCAT	0.358																																						dbGAP											0													68.0	70.0	69.0					9																	114454003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.4062C>G	9.37:g.114454003G>C	ENSP00000322108:p.Phe1354Leu		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.F1354L	ENST00000318737.4	37	c.4062	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797855	0.31777	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06218	3.33;3.36;3.35;3.35	5.25	-0.0614	0.13785	.	1.132130	0.06552	N	0.745150	T	0.05090	0.0136	L	0.32530	0.975	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.011	B;B;B	0.14578	0.011;0.004;0.011	T	0.45934	-0.9227	10	0.56958	D	0.05	2.9461	1.1883	0.01859	0.3273:0.1438:0.3817:0.1472	.	1280;1354;1315	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	L	1315;1280;968;1354;1354	ENSP00000378259:F1315L;ENSP00000378257:F1280L;ENSP00000363405:F1354L;ENSP00000322108:F1354L	ENSP00000322108:F1354L	F	-	3	2	C9orf84	113493824	0.003000	0.15002	0.031000	0.17742	0.897000	0.52465	-0.174000	0.09839	0.048000	0.15891	0.467000	0.42956	TTC	C9orf84	-	NULL	ENSG00000165181		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	66	0.00	0	G	NM_173521		114454003	114454003	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	missense	60	24.69	20	SNP	0.004	C
C9orf84	158401	genome.wustl.edu	37	9	114454075	114454075	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:114454075G>A	ENST00000318737.4	-	25	4118	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	C9orf84_ENST00000374287.3_Silent_p.F1330F|C9orf84_ENST00000394777.4_Silent_p.F1256F|C9orf84_ENST00000394779.3_Silent_p.F1291F	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1330										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTGATCAGTGAATAAATTAC	0.383																																						dbGAP											0													77.0	78.0	78.0					9																	114454075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3990C>T	9.37:g.114454075G>A			A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.F1330	ENST00000318737.4	37	c.3990	CCDS6781.3	9																																																																																			C9orf84	-	NULL	ENSG00000165181		0.383	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	65	0.00	0	G	NM_173521		114454075	114454075	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	silent	49	23.44	15	SNP	0.065	A
C9orf84	158401	genome.wustl.edu	37	9	114454484	114454484	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:114454484G>C	ENST00000318737.4	-	25	3709	c.3581C>G	c.(3580-3582)tCc>tGc	p.S1194C	C9orf84_ENST00000374287.3_Missense_Mutation_p.S1194C|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1120C|C9orf84_ENST00000394779.3_Missense_Mutation_p.S1155C	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1194										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTACAGCTGGAGTCTTTCCA	0.363																																						dbGAP											0													85.0	90.0	89.0					9																	114454484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3581C>G	9.37:g.114454484G>C	ENSP00000322108:p.Ser1194Cys		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.S1194C	ENST00000318737.4	37	c.3581	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	9.813	1.183776	0.21870	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05996	3.37;3.36;3.38;3.38	5.53	3.62	0.41486	.	0.266072	0.27168	N	0.020605	T	0.11707	0.0285	L	0.32530	0.975	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.63192	0.912;0.912;0.912	T	0.05852	-1.0860	10	0.59425	D	0.04	0.3817	7.7002	0.28619	0.2033:0.0:0.7967:0.0	.	1120;1194;1155	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	C	1155;1120;808;1194;1194	ENSP00000378259:S1155C;ENSP00000378257:S1120C;ENSP00000363405:S1194C;ENSP00000322108:S1194C	ENSP00000322108:S1194C	S	-	2	0	C9orf84	113494305	0.127000	0.22367	0.003000	0.11579	0.023000	0.10783	1.268000	0.33062	0.745000	0.32763	0.563000	0.77884	TCC	C9orf84	-	NULL	ENSG00000165181		0.363	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	60	0.00	0	G	NM_173521		114454484	114454484	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	missense	62	13.89	10	SNP	0.006	C
CA5B	11238	genome.wustl.edu	37	X	15793409	15793409	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:15793409C>A	ENST00000318636.3	+	6	732	c.596C>A	c.(595-597)aCt>aAt	p.T199N	CA5B_ENST00000454127.2_Missense_Mutation_p.T199N	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TTAGTGGATACTTTGCCGTCA	0.333																																						dbGAP											0													149.0	137.0	141.0					X																	15793409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.596C>A	X.37:g.15793409C>A	ENSP00000314099:p.Thr199Asn		A6NEZ4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.T199N	ENST00000318636.3	37	c.596	CCDS14171.1	X	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661867	0.29515	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	T;T	0.66995	-0.24;-0.24	5.44	3.61	0.41365	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.394212	0.30556	N	0.009376	T	0.45915	0.1366	N	0.04805	-0.155	0.24255	N	0.995303	B	0.30526	0.283	B	0.37888	0.26	T	0.39643	-0.9604	10	0.48119	T	0.1	0.0763	6.5119	0.22226	0.0:0.7561:0.0:0.2439	.	199	Q9Y2D0	CAH5B_HUMAN	N	199	ENSP00000314099:T199N;ENSP00000417021:T199N	ENSP00000314099:T199N	T	+	2	0	CA5B	15703330	0.041000	0.20044	0.113000	0.21522	0.438000	0.31896	0.314000	0.19432	0.441000	0.26529	0.429000	0.28392	ACT	CA5B	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000169239		0.333	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5B	HGNC	protein_coding	OTTHUMT00000354933.1	136	0.00	0	C	NM_007220		15793409	15793409	+1	no_errors	ENST00000318636	ensembl	human	known	69_37n	missense	74	11.90	10	SNP	0.766	A
CABLES1	91768	genome.wustl.edu	37	18	20817196	20817196	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:20817196T>C	ENST00000256925.7	+	7	1433	c.1433T>C	c.(1432-1434)tTc>tCc	p.F478S	CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.F213S|CABLES1_ENST00000400473.2_Missense_Mutation_p.F151S	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	478	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTTCTGATCTTCCCTTCCTAC	0.547																																						dbGAP											0													135.0	131.0	132.0					18																	20817196		2038	4218	6256	-	-	-	SO:0001583	missense	0			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1433T>C	18.37:g.20817196T>C	ENSP00000256925:p.Phe478Ser		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.F478S	ENST00000256925.7	37	c.1433	CCDS42417.1	18	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833582	0.91036	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.16597	2.33;2.33;2.33	5.8	5.8	0.92144	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.80764	0.981;0.994	T	0.45264	-0.9273	10	0.87932	D	0	-19.0122	16.1549	0.81657	0.0:0.0:0.0:1.0	.	213;478	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	S	151;478;213	ENSP00000383321:F151S;ENSP00000256925:F478S;ENSP00000413851:F213S	ENSP00000256925:F478S	F	+	2	0	CABLES1	19071194	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	7.654000	0.83653	2.209000	0.71365	0.533000	0.62120	TTC	CABLES1	-	superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	ENSG00000134508		0.547	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	HGNC	protein_coding	OTTHUMT00000445198.2	101	0.00	0	T	NM_138375		20817196	20817196	+1	no_errors	ENST00000256925	ensembl	human	known	69_37n	missense	76	17.20	16	SNP	1.000	C
CACNA1E	777	genome.wustl.edu	37	1	181721316	181721316	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:181721316C>G	ENST00000367573.2	+	27	3769	c.3769C>G	c.(3769-3771)Ctg>Gtg	p.L1257V	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1257V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L864V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1189V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1238V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1238V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1208V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1257					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATCAAGTCTCTGCGGGTGCT	0.493																																						dbGAP											0													117.0	116.0	116.0					1																	181721316		1914	4134	6048	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3769C>G	1.37:g.181721316C>G	ENSP00000356545:p.Leu1257Val		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.L1257V	ENST00000367573.2	37	c.3769	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848548	0.71603	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.72	3.87	0.44632	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.83275	0.996;0.994;0.99	D	0.99177	1.0866	10	0.87932	D	0	.	12.3366	0.55071	0.0:0.8621:0.0:0.1379	.	1238;1257;1257	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	V	1257;1238;1208;1189;864;1238;1257	ENSP00000356542:L1257V;ENSP00000434814:L1238V;ENSP00000350183:L1208V;ENSP00000351101:L1189V;ENSP00000356539:L864V;ENSP00000353222:L1238V;ENSP00000356545:L1257V	ENSP00000350183:L1208V	L	+	1	2	CACNA1E	179987939	1.000000	0.71417	0.414000	0.26521	0.953000	0.61014	4.801000	0.62532	0.905000	0.36596	-0.136000	0.14681	CTG	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	50	0.00	0	C	NM_000721		181721316	181721316	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	0.983	G
CADM1	23705	genome.wustl.edu	37	11	115109292	115109292	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:115109292C>G	ENST00000452722.3	-	3	372	c.352G>C	c.(352-354)Gat>Cat	p.D118H	CADM1_ENST00000537058.1_Missense_Mutation_p.D118H|CADM1_ENST00000331581.6_Missense_Mutation_p.D118H|CADM1_ENST00000536727.1_Missense_Mutation_p.D118H|CADM1_ENST00000542447.2_Missense_Mutation_p.D118H|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTTCCTTCATCAGAAATTGAG	0.448																																						dbGAP											0													124.0	119.0	121.0					11																	115109292		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.352G>C	11.37:g.115109292C>G	ENSP00000395359:p.Asp118His			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.D118H	ENST00000452722.3	37	c.352	CCDS8373.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.360148|4.360148	0.82353|0.82353	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000545380	D;D;D;D;D;D|.	0.87729|.	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82972|.	0.5153|.	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;0.999;1.0;0.998|.	D|.	0.83917|.	0.0299|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.3366|19.3366	0.94322|0.94322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	118;118;119;118;118|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	H|S	118;118;118;118;77;118;85|116	ENSP00000439176:D118H;ENSP00000395359:D118H;ENSP00000439817:D118H;ENSP00000440322:D118H;ENSP00000329797:D118H;ENSP00000439696:D85H|.	ENSP00000329797:D118H|.	D|X	-|-	1|2	0|2	CADM1|CADM1	114614502|114614502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.289000|7.289000	0.78701|0.78701	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GAT|TGA	CADM1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000182985		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	67	0.00	0	C	NM_014333		115109292	115109292	-1	no_errors	ENST00000452722	ensembl	human	known	69_37n	missense	71	11.25	9	SNP	1.000	G
CALM2	805	genome.wustl.edu	37	2	47389797	47389797	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:47389797G>C	ENST00000272298.7	-	3	196	c.39C>G	c.(37-39)ttC>ttG	p.F13L	CALM2_ENST00000409563.1_Missense_Mutation_p.F60L|RP11-761B3.1_ENST00000422269.1_Intron|CALM2_ENST00000484408.1_5'UTR	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	13	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	AAGCTTCTTTGAATTCTGTTT	0.348																																						dbGAP											2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											59.0	58.0	58.0					2																	47389797		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.39C>G	2.37:g.47389797G>C	ENSP00000272298:p.Phe13Leu		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.F13L	ENST00000272298.7	37	c.39	CCDS1832.1	2	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661445	0.47572	.	.	ENSG00000143933	ENST00000272298;ENST00000456319;ENST00000409563	D;D;D	0.84516	-1.86;-1.86;-1.86	5.97	5.97	0.96955	.	0.057386	0.64402	D	0.000001	D	0.88980	0.6585	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89259	0.3596	7	0.87932	D	0	.	10.4433	0.44479	0.1454:0.0:0.8546:0.0	.	.	.	.	L	13;51;60	ENSP00000272298:F13L;ENSP00000411440:F51L;ENSP00000387065:F60L	ENSP00000272298:F13L	F	-	3	2	CALM2	47243301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.983000	0.88140	2.831000	0.97527	0.655000	0.94253	TTC	CALM2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	ENSG00000143933		0.348	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM2	HGNC	protein_coding	OTTHUMT00000250789.3	80	0.00	0	G	NM_001743		47389797	47389797	-1	no_errors	ENST00000272298	ensembl	human	known	69_37n	missense	80	16.49	16	SNP	1.000	C
CALR3	125972	genome.wustl.edu	37	19	16593368	16593368	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:16593368G>A	ENST00000269881.3	-	7	873	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	CTD-3222D19.2_ENST00000409035.1_3'UTR|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	271	3 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ACGTCTTTATGAATACCTTCT	0.502																																						dbGAP											0													151.0	141.0	144.0					19																	16593368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.811C>T	19.37:g.16593368G>A	ENSP00000269881:p.His271Tyr		D9N574|Q96LN3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex	p.H271Y	ENST00000269881.3	37	c.811	CCDS12344.1	19	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.232656	0.01505	.	.	ENSG00000141979	ENST00000269881;ENST00000409035	T	0.49139	0.79	5.27	-0.631	0.11526	Concanavalin A-like lectin/glucanase (1);Calreticulin/calnexin, P (1);	0.317189	0.25897	U	0.027589	T	0.20292	0.0488	N	0.19112	0.55	0.09310	N	1	B	0.30236	0.274	B	0.31869	0.137	T	0.24657	-1.0154	10	0.02654	T	1	-19.5136	1.7687	0.03008	0.1295:0.3961:0.2552:0.2191	.	271	Q96L12	CALR3_HUMAN	Y	271;68	ENSP00000269881:H271Y	ENSP00000269881:H271Y	H	-	1	0	CALR3	16454368	0.475000	0.25894	0.000000	0.03702	0.001000	0.01503	1.012000	0.29924	-0.226000	0.09899	-0.885000	0.02943	CAT	CALR3	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex	ENSG00000141979		0.502	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR3	HGNC	protein_coding	OTTHUMT00000461089.1	73	0.00	0	G	NM_145046		16593368	16593368	-1	no_errors	ENST00000269881	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	0.004	A
CAND1	55832	genome.wustl.edu	37	12	67691236	67691236	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:67691236C>T	ENST00000545606.1	+	5	978	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	181					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GACCTGTCTACTTCCCCAGTT	0.378																																						dbGAP											0													135.0	137.0	137.0					12																	67691236		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.541C>T	12.37:g.67691236C>T	ENSP00000442318:p.Leu181Phe		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L181F	ENST00000545606.1	37	c.541	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710130	0.68730	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.69040	-0.37	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.72576	2.205	0.80722	D	1	P	0.52692	0.955	P	0.58454	0.839	T	0.78846	-0.2043	9	.	.	.	-7.142	19.057	0.93069	0.0:1.0:0.0:0.0	.	181	Q86VP6	CAND1_HUMAN	F	181;181;23	ENSP00000442318:L181F	.	L	+	1	0	CAND1	65977503	1.000000	0.71417	0.949000	0.38748	0.973000	0.67179	7.594000	0.82698	2.508000	0.84585	0.655000	0.94253	CTT	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.378	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	75	0.00	0	C	NM_018448		67691236	67691236	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	1.000	T
CARD11	84433	genome.wustl.edu	37	7	2987384	2987384	+	Silent	SNP	C	C	T	rs555618367		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:2987384C>T	ENST00000396946.4	-	3	448	c.45G>A	c.(43-45)ctG>ctA	p.L15L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	15					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTCATCCTTCAGCGTCTCCA	0.512			Mis		DLBCL								C|||	1	0.000199681	0.0	0.0	5008	,	,		16497	0.0		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													244.0	211.0	222.0					7																	2987384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.45G>A	7.37:g.2987384C>T			A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.L15	ENST00000396946.4	37	c.45	CCDS5336.2	7																																																																																			CARD11	-	NULL	ENSG00000198286		0.512	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	117	0.00	0	C	NM_032415		2987384	2987384	-1	no_errors	ENST00000396946	ensembl	human	known	69_37n	silent	54	22.86	16	SNP	0.851	T
CARM1	10498	genome.wustl.edu	37	19	11031748	11031748	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:11031748G>C	ENST00000327064.4	+	14	1750	c.1560G>C	c.(1558-1560)ttG>ttC	p.L520F	CARM1_ENST00000344150.4_Missense_Mutation_p.L520F	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	520	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCTATGACTTGAGCAGTGTTA	0.662																																						dbGAP											0													53.0	50.0	51.0					19																	11031748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1560G>C	19.37:g.11031748G>C	ENSP00000325690:p.Leu520Phe		A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.L520F	ENST00000327064.4	37	c.1560	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316036	0.60524	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.29655	1.58;1.56	5.02	3.91	0.45181	.	0.166708	0.40302	N	0.001136	T	0.43590	0.1254	L	0.44542	1.39	0.58432	D	0.999991	D;D	0.71674	0.997;0.998	D;D	0.78314	0.986;0.991	T	0.12604	-1.0541	10	0.32370	T	0.25	-3.0077	11.9164	0.52767	0.0:0.361:0.639:0.0	.	520;520	Q86X55-1;Q86X55	.;CARM1_HUMAN	F	520	ENSP00000325690:L520F;ENSP00000340934:L520F	ENSP00000325690:L520F	L	+	3	2	CARM1	10892748	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	2.601000	0.46249	2.324000	0.78689	0.637000	0.83480	TTG	CARM1	-	NULL	ENSG00000142453		0.662	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	38	0.00	0	G	XM_032719		11031748	11031748	+1	no_errors	ENST00000327064	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	1.000	C
CARS	833	genome.wustl.edu	37	11	3069055	3069055	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:3069055G>A	ENST00000397111.5	-	2	271				CARS_ENST00000380525.4_Missense_Mutation_p.R68W|CARS_ENST00000278224.9_Intron|RNU1-91P_ENST00000364746.1_RNA|CARS_ENST00000397114.3_5'UTR|CARS_ENST00000401769.3_Intron			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGAACCACCGAGCCACGTGG	0.642			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													37.0	45.0	43.0					11																	3069055		2013	4150	6163	-	-	-	SO:0001627	intron_variant	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.26-5569C>T	11.37:g.3069055G>A			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.R68W	ENST00000397111.5	37	c.202	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771888	0.90108	.	.	ENSG00000110619	ENST00000380525	T	0.09911	2.93	3.67	3.67	0.42095	.	0.000000	0.64402	D	0.000001	T	0.38799	0.1054	M	0.92459	3.31	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61722	0.893;0.549	T	0.57963	-0.7720	10	0.72032	D	0.01	-28.3999	15.5747	0.76368	0.0:0.0:1.0:0.0	.	68;68	B4DPV7;Q5HYE4	.;.	W	68	ENSP00000369897:R68W	ENSP00000369897:R68W	R	-	1	2	CARS	3025631	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.774000	0.68906	1.878000	0.54408	0.462000	0.41574	CGG	CARS	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000110619		0.642	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	43	0.00	0	G	NM_001751		3069055	3069055	-1	no_errors	ENST00000380525	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
CASK	8573	genome.wustl.edu	37	X	41413095	41413095	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:41413095C>T	ENST00000378163.1	-	21	2390	c.1916G>A	c.(1915-1917)cGa>cAa	p.R639Q	CASK_ENST00000472704.1_5'UTR|CASK_ENST00000421587.2_Missense_Mutation_p.R610Q|CASK_ENST00000378158.1_Missense_Mutation_p.R627Q|CASK_ENST00000361962.4_Missense_Mutation_p.R627Q|CASK_ENST00000318588.9_Missense_Mutation_p.R639Q|CASK_ENST00000442742.2_Missense_Mutation_p.R616Q|CASK_ENST00000378166.4_Missense_Mutation_p.R639Q			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	639	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AACTCTGAATCGAATGCCAGC	0.403																																					NSCLC(42;104 1086 3090 27189 35040)	dbGAP											0													151.0	114.0	126.0					X																	41413095		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1916G>A	X.37:g.41413095C>T	ENSP00000367405:p.Arg639Gln		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.R639Q	ENST00000378163.1	37	c.1916		X	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524644	0.85600	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04;3.04	6.07	6.07	0.98685	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.47093	D	0.000245	T	0.13970	0.0338	N	0.20685	0.6	0.80722	D	1	D;D;D;P;P	0.54047	0.964;0.961;0.958;0.924;0.904	B;P;B;B;B	0.55824	0.257;0.785;0.313;0.374;0.294	T	0.15009	-1.0452	10	0.27785	T	0.31	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	610;616;639;639;231	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	Q	610;639;627;639;231;94;627;639;616	ENSP00000400526:R610Q;ENSP00000322727:R639Q;ENSP00000354641:R627Q;ENSP00000367405:R639Q;ENSP00000367421:R231Q;ENSP00000367410:R94Q;ENSP00000367400:R627Q;ENSP00000367408:R639Q;ENSP00000398007:R616Q	ENSP00000322727:R639Q	R	-	2	0	CASK	41298039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.580000	0.60942	2.557000	0.86248	0.594000	0.82650	CGA	CASK	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000147044		0.403	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	120	0.00	0	C	NM_003688		41413095	41413095	-1	no_errors	ENST00000378163	ensembl	human	known	69_37n	missense	53	41.11	37	SNP	1.000	T
CASZ1	54897	genome.wustl.edu	37	1	10705025	10705025	+	Missense_Mutation	SNP	C	C	G	rs202119857		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:10705025C>G	ENST00000377022.3	-	18	4134	c.3817G>C	c.(3817-3819)Gca>Cca	p.A1273P	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1273					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCATTGGCTGCCCGCCGCTCC	0.607																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3817G>C	1.37:g.10705025C>G	ENSP00000366221:p.Ala1273Pro		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1273P	ENST00000377022.3	37	c.3817	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843192	0.91197	.	.	ENSG00000130940	ENST00000377022	.	.	.	5.15	4.23	0.50019	.	0.000000	0.45361	U	0.000362	T	0.68869	0.3048	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.69202	-0.5207	9	0.48119	T	0.1	-6.3643	13.3719	0.60717	0.0:0.9242:0.0:0.0758	.	1273	Q86V15	CASZ1_HUMAN	P	1273	.	ENSP00000366221:A1273P	A	-	1	0	CASZ1	10627612	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	1.170000	0.42753	0.561000	0.74099	GCA	CASZ1	-	NULL	ENSG00000130940		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	72	0.00	0	C	NM_017766		10705025	10705025	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	G
PDIA3	2923	genome.wustl.edu	37	15	44036377	44036377	+	5'Flank	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:44036377C>T	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGATCGTATTCAAAAAGATCA	0.428																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44036377C>T	Exception_encountered		Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	-	NULL	ENST00000300289.5	37	NULL	CCDS10101.1	15																																																																																			CATSPER2P1	-	-	ENSG00000205771		0.428	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER2P1	HGNC	protein_coding	OTTHUMT00000103532.3	50	0.00	0	C	NM_005313		44036377	44036377	-1	no_errors	ENST00000429276	ensembl	human	known	69_37n	rna	40	20.00	10	SNP	1.000	T
CBY1	25776	genome.wustl.edu	37	22	39069209	39069209	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:39069209G>C	ENST00000216029.3	+	5	483	c.349G>C	c.(349-351)Gat>Cat	p.D117H	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	117					cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					GAAGGAACTGGATGAACTGAG	0.473																																						dbGAP											0													83.0	75.0	78.0					22																	39069209		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.349G>C	22.37:g.39069209G>C	ENSP00000216029:p.Asp117His		B2R4S2|Q66GT6|Q9UIK9	Missense_Mutation	SNP	NULL	p.D117H	ENST00000216029.3	37	c.349	CCDS13974.1	22	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493433	0.84962	.	.	ENSG00000100211	ENST00000396811;ENST00000216029	.	.	.	5.48	5.48	0.80851	.	0.144833	0.64402	D	0.000010	T	0.61502	0.2352	L	0.55481	1.735	0.48135	D	0.999598	P	0.42337	0.776	P	0.45138	0.471	T	0.65269	-0.6209	9	0.66056	D	0.02	0.1547	17.5676	0.87924	0.0:0.0:1.0:0.0	.	117	Q9Y3M2	CBY1_HUMAN	H	117	.	ENSP00000216029:D117H	D	+	1	0	CBY1	37399155	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.016000	0.88706	2.572000	0.86782	0.655000	0.94253	GAT	CBY1	-	NULL	ENSG00000100211		0.473	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBY1	HGNC	protein_coding	OTTHUMT00000320832.1	74	0.00	0	G	NM_015373		39069209	39069209	+1	no_errors	ENST00000216029	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	C
CCDC108	255101	genome.wustl.edu	37	2	219887984	219887984	+	Missense_Mutation	SNP	C	C	T	rs186211637	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:219887984C>T	ENST00000341552.5	-	16	2848	c.2765G>A	c.(2764-2766)cGa>cAa	p.R922Q	CCDC108_ENST00000441968.1_Missense_Mutation_p.R922Q|CCDC108_ENST00000453220.1_Missense_Mutation_p.R922Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	922	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCTTTCGATGCTGCTC	0.637													C|||	13	0.00259585	0.0	0.0	5008	,	,		18161	0.0119		0.001	False		,,,				2504	0.0					dbGAP											0													34.0	37.0	36.0					2																	219887984		2203	4300	6503	-	-	-	SO:0001583	missense	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2765G>A	2.37:g.219887984C>T	ENSP00000340776:p.Arg922Gln		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.R922Q	ENST00000341552.5	37	c.2765	CCDS2430.2	2	7	0.003205128205128205	0	0.0	0	0.0	6	0.01048951048951049	1	0.0013192612137203166	C	3.285	-0.146220	0.06627	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.62941	-0.01;-0.01;-0.01	5.61	2.68	0.31781	.	0.630686	0.13147	N	0.410175	T	0.32346	0.0826	N	0.21448	0.665	0.09310	N	0.999992	B	0.21381	0.055	B	0.20767	0.031	T	0.20672	-1.0268	10	0.12103	T	0.63	-2.8147	4.7194	0.12912	0.0:0.4857:0.1488:0.3655	.	922	Q6ZU64	CC108_HUMAN	Q	922	ENSP00000340776:R922Q;ENSP00000413377:R922Q;ENSP00000409117:R922Q	ENSP00000340776:R922Q	R	-	2	0	CCDC108	219596228	0.000000	0.05858	0.512000	0.27736	0.275000	0.26752	-0.185000	0.09684	0.246000	0.21394	-0.300000	0.09419	CGA	CCDC108	-	superfamily_PapD-like,pfscan_Major_sperm	ENSG00000181378		0.637	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	33	0.00	0	C	NM_194302		219887984	219887984	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	missense	21	29.03	9	SNP	0.062	T
CCDC109B	55013	genome.wustl.edu	37	4	110603795	110603795	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:110603795G>A	ENST00000394650.4	+	5	642	c.509G>A	c.(508-510)aGa>aAa	p.R170K		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	170					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)	p.R82I(1)|p.R170I(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TTGGTTCACAGACTATTTACA	0.413																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											122.0	121.0	121.0					4																	110603795		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.509G>A	4.37:g.110603795G>A	ENSP00000378145:p.Arg170Lys		A8K4Y3|Q6IAC1	Missense_Mutation	SNP	pfam_Coiled-coil-dom_prot_109_C	p.R170K	ENST00000394650.4	37	c.509	CCDS3683.2	4	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539352	0.27475	.	.	ENSG00000005059	ENST00000394650	T	0.28895	1.59	6.04	6.04	0.98038	Coiled-coil domain containing protein 109, C-terminal (1);	0.057042	0.64402	D	0.000002	T	0.36386	0.0965	L	0.56396	1.775	0.45087	D	0.998108	B	0.12630	0.006	B	0.23018	0.043	T	0.07481	-1.0770	10	0.27082	T	0.32	-21.7967	20.5948	0.99439	0.0:0.0:1.0:0.0	.	170	Q9NWR8	C109B_HUMAN	K	170	ENSP00000378145:R170K	ENSP00000378145:R170K	R	+	2	0	CCDC109B	110823244	1.000000	0.71417	0.729000	0.30791	0.048000	0.14542	4.457000	0.60088	2.873000	0.98535	0.563000	0.77884	AGA	CCDC109B	-	pfam_Coiled-coil-dom_prot_109_C	ENSG00000005059		0.413	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC109B	HGNC	protein_coding	OTTHUMT00000254865.1	45	0.00	0	G	NM_017918		110603795	110603795	+1	no_errors	ENST00000394650	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	0.994	A
CCDC110	256309	genome.wustl.edu	37	4	186380336	186380336	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:186380336G>A	ENST00000307588.3	-	6	1480	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.L432F|CCDC110_ENST00000510617.1_Missense_Mutation_p.L469F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	469						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCTGTATGAGAGATTGTGTG	0.318																																						dbGAP											0													65.0	66.0	66.0					4																	186380336		2203	4283	6486	-	-	-	SO:0001583	missense	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1405C>T	4.37:g.186380336G>A	ENSP00000306776:p.Leu469Phe		Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.L469F	ENST00000307588.3	37	c.1405	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593346	0.46214	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.12879	2.64;2.64;2.64	5.66	2.79	0.32731	.	0.155329	0.30177	N	0.010222	T	0.26011	0.0634	M	0.64997	1.995	0.33497	D	0.589384	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.988	T	0.31888	-0.9927	10	0.45353	T	0.12	-2.418	3.0877	0.06283	0.1562:0.1416:0.556:0.1461	.	469;432;469	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	F	432;469;469	ENSP00000377172:L432F;ENSP00000306776:L469F;ENSP00000427246:L469F	ENSP00000306776:L469F	L	-	1	0	CCDC110	186617330	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.383000	0.34385	0.715000	0.32103	0.655000	0.94253	CTC	CCDC110	-	NULL	ENSG00000168491		0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	19	0.00	0	G	NM_152775		186380336	186380336	-1	no_errors	ENST00000307588	ensembl	human	known	69_37n	missense	24	40.00	16	SNP	1.000	A
CCDC120	90060	genome.wustl.edu	37	X	48922181	48922181	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:48922181C>T	ENST00000376396.3	+	6	824	c.605C>T	c.(604-606)gCt>gTt	p.A202V	CCDC120_ENST00000597275.1_Missense_Mutation_p.A202V|CCDC120_ENST00000422185.2_Missense_Mutation_p.A202V|CCDC120_ENST00000496529.2_Missense_Mutation_p.A202V|CCDC120_ENST00000603986.1_Missense_Mutation_p.A237V|CCDC120_ENST00000536628.2_Missense_Mutation_p.A190V	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	202										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						ATGCGTCTTGCTCAGCTCAGC	0.652																																						dbGAP											0													26.0	23.0	24.0					X																	48922181		2198	4293	6491	-	-	-	SO:0001583	missense	0			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.605C>T	X.37:g.48922181C>T	ENSP00000365577:p.Ala202Val		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	pfam_DUF3338	p.A202V	ENST00000376396.3	37	c.605	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	C	9.467	1.094576	0.20471	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.35	3.47	0.39725	.	0.546334	0.15407	N	0.264015	T	0.30293	0.0760	L	0.43152	1.355	0.23879	N	0.996582	B;B;B;B	0.16603	0.005;0.005;0.018;0.005	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.11542	-1.0583	9	0.20519	T	0.43	-13.7305	6.5129	0.22232	0.0:0.8658:0.0:0.1342	.	190;237;190;202	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	V	202;202;190	.	ENSP00000365577:A202V	A	+	2	0	CCDC120	48809125	0.740000	0.28207	0.843000	0.33291	0.250000	0.25880	1.272000	0.33109	1.756000	0.51951	0.292000	0.19580	GCT	CCDC120	-	NULL	ENSG00000147144		0.652	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	31	0.00	0	C	NM_033626		48922181	48922181	+1	no_errors	ENST00000422185	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.776	T
CCDC144A	9720	genome.wustl.edu	37	17	16612317	16612317	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:16612317G>A	ENST00000360524.8	+	5	1022	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CCDC144A_ENST00000399273.1_Missense_Mutation_p.E316K|CCDC144A_ENST00000456009.1_Intron|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Missense_Mutation_p.E316K|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E315K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E316K	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	316																	GGCTTGTCCTGAGGAAGAGCC	0.358																																						dbGAP											0													22.0	22.0	22.0					17																	16612317		1792	4021	5813	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.946G>A	17.37:g.16612317G>A	ENSP00000353717:p.Glu316Lys		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.E316K	ENST00000360524.8	37	c.946	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	14.63	2.593711	0.46214	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	1.53	-1.11	0.09840	.	.	.	.	.	T	0.08670	0.0215	L	0.29908	0.895	0.19300	N	0.999973	P	0.42584	0.784	B	0.28638	0.092	T	0.23084	-1.0198	8	.	.	.	.	1.687	0.02844	0.2476:0.0:0.416:0.3364	.	316	A2RUR9	C144A_HUMAN	K	315;316;316;316;316;316	ENSP00000344740:E315K;ENSP00000382215:E316K;ENSP00000439262:E316K;ENSP00000440655:E316K;ENSP00000353717:E316K;ENSP00000353685:E316K	.	E	+	1	0	CCDC144A	16553042	0.000000	0.05858	0.725000	0.30721	0.183000	0.23260	-0.298000	0.08265	-0.056000	0.13221	0.175000	0.17021	GAG	CCDC144A	-	NULL	ENSG00000170160		0.358	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	74	0.00	0	G			16612317	16612317	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	183	11.11	23	SNP	0.260	A
CCDC47	57003	genome.wustl.edu	37	17	61829734	61829734	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:61829734C>A	ENST00000225726.5	-	11	1531	c.1149G>T	c.(1147-1149)atG>atT	p.M383I	CCDC47_ENST00000403162.3_Missense_Mutation_p.M383I|RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000582252.1_Missense_Mutation_p.M383I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	383					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCACCATGTTCATCAGGGGTA	0.393																																						dbGAP											0													106.0	104.0	105.0					17																	61829734		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1149G>T	17.37:g.61829734C>A	ENSP00000225726:p.Met383Ile		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.M383I	ENST00000225726.5	37	c.1149	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875449	0.51695	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.12	5.12	0.69794	.	0.035948	0.85682	D	0.000000	T	0.63768	0.2539	L	0.31664	0.95	0.80722	D	1	P;B	0.48294	0.908;0.245	D;B	0.64144	0.922;0.096	T	0.56135	-0.8029	9	0.20046	T	0.44	-18.5686	17.7273	0.88369	0.0:1.0:0.0:0.0	.	383;383	Q96A33-2;Q96A33	.;CCD47_HUMAN	I	383	.	ENSP00000225726:M383I	M	-	3	0	CCDC47	59183466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.658000	0.90341	0.655000	0.94253	ATG	CCDC47	-	pfam_DUF1682	ENSG00000108588		0.393	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	65	0.00	0	C	NM_020198		61829734	61829734	-1	no_errors	ENST00000225726	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	1.000	A
CCDC63	160762	genome.wustl.edu	37	12	111321923	111321923	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:111321923G>A	ENST00000308208.5	+	8	1185	c.943G>A	c.(943-945)Gag>Aag	p.E315K	CCDC63_ENST00000552694.1_Missense_Mutation_p.E236K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E275K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	315										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAGCTGGCTGAGAGTGGGAA	0.502																																						dbGAP											0													118.0	119.0	118.0					12																	111321923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.943G>A	12.37:g.111321923G>A	ENSP00000312399:p.Glu315Lys		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.E315K	ENST00000308208.5	37	c.943	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610894	0.28712	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21734	1.99;1.99;1.99	5.68	0.413	0.16401	.	0.629622	0.17556	N	0.169975	T	0.10937	0.0267	L	0.35793	1.09	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.33803	-0.9854	10	0.11182	T	0.66	.	1.8225	0.03113	0.2384:0.1358:0.4861:0.1397	.	315	Q8NA47	CCD63_HUMAN	K	275;315;236	ENSP00000445881:E275K;ENSP00000312399:E315K;ENSP00000450217:E236K	ENSP00000312399:E315K	E	+	1	0	CCDC63	109806306	0.163000	0.22920	0.000000	0.03702	0.853000	0.48598	0.549000	0.23329	-0.192000	0.10432	0.655000	0.94253	GAG	CCDC63	-	NULL	ENSG00000173093		0.502	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	89	0.00	0	G	NM_152591		111321923	111321923	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	missense	70	21.35	19	SNP	0.000	A
CCDC78	124093	genome.wustl.edu	37	16	773019	773019	+	Splice_Site	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:773019C>G	ENST00000293889.6	-	13	1306		c.e13-1			NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78						cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CGTTCCAGCTCTGCCTGGCAT	0.652																																						dbGAP											0													54.0	49.0	51.0					16																	773019		2195	4296	6491	-	-	-	SO:0001630	splice_region_variant	0			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1201-1G>C	16.37:g.773019C>G			B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Splice_Site	SNP	-	e13-1	ENST00000293889.6	37	c.1201-1	CCDS32353.1	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	7.283|7.283|7.283	0.609462|0.609462|0.609462	0.14066|0.14066|0.14066	.|.|.	.|.|.	ENSG00000162004|ENSG00000162004|ENSG00000162004	ENST00000293889|ENST00000540512|ENST00000345165	.|.|.	.|.|.	.|.|.	4.55|4.55|4.55	2.56|2.56|2.56	0.30785|0.30785|0.30785	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.58906|0.58906	.|0.2155|0.2155	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.57257|.	.|0.979;0.979|.	.|P;P|.	.|0.54270|.	.|0.747;0.675|.	.|T|T	.|0.54748|0.54748	.|-0.8247|-0.8247	.|7|4	.|0.41790|.	.|T|.	.|0.15|.	.|.|.	9.7784|9.7784|9.7784	0.40634|0.40634|0.40634	0.0:0.824:0.0:0.176|0.0:0.824:0.0:0.176|0.0:0.824:0.0:0.176	.|.|.	.|161;251|.	.|D3DU63;D3DU61|.	.|.;.|.	.|Q|H	-1|239|250	.|.|.	.|ENSP00000444907:E239Q|.	.|E|Q	-|-|-	.|1|3	.|0|2	CCDC78|CCDC78|CCDC78	713020|713020|713020	0.937000|0.937000|0.937000	0.31787|0.31787|0.31787	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.904000|0.904000|0.904000	0.53231|0.53231|0.53231	1.196000|1.196000|1.196000	0.32198|0.32198|0.32198	0.904000|0.904000|0.904000	0.36572|0.36572|0.36572	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	.|GAG|CAG	CCDC78	-	-	ENSG00000162004		0.652	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	34	0.00	0	C	NM_173476	Intron	773019	773019	-1	no_errors	ENST00000293889	ensembl	human	known	69_37n	splice_site	20	20.00	5	SNP	1.000	G
CCDC84	338657	genome.wustl.edu	37	11	118868978	118868978	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:118868978G>T	ENST00000334418.1	+	1	127	c.71G>T	c.(70-72)cGc>cTc	p.R24L	RP11-110I1.12_ENST00000526453.1_lincRNA	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	24										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GTTTACAGCCGCAAGCACCAG	0.662																																						dbGAP											0													11.0	14.0	13.0					11																	118868978		2191	4287	6478	-	-	-	SO:0001583	missense	0			AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.71G>T	11.37:g.118868978G>T	ENSP00000334767:p.Arg24Leu			Missense_Mutation	SNP	NULL	p.R24L	ENST00000334418.1	37	c.71	CCDS8405.1	11	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541174	0.85917	.	.	ENSG00000186166	ENST00000334418	T	0.48522	0.81	5.12	3.24	0.37175	.	0.172664	0.50627	D	0.000104	T	0.39708	0.1088	L	0.39898	1.24	0.30957	N	0.724044	P	0.39424	0.673	B	0.43680	0.427	T	0.46803	-0.9165	10	0.62326	D	0.03	-15.4379	4.8752	0.13653	0.1912:0.1763:0.6324:0.0	.	24	Q86UT8	CCD84_HUMAN	L	24	ENSP00000334767:R24L	ENSP00000334767:R24L	R	+	2	0	CCDC84	118374188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.627000	0.24506	0.731000	0.32448	0.650000	0.86243	CGC	CCDC84	-	NULL	ENSG00000186166		0.662	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC84	HGNC	protein_coding	OTTHUMT00000389315.1	22	0.00	0	G	NM_198489		118868978	118868978	+1	no_errors	ENST00000334418	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	T
CCDC88C	440193	genome.wustl.edu	37	14	91745599	91745599	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:91745599G>A	ENST00000389857.6	-	28	4837	c.4751C>T	c.(4750-4752)tCa>tTa	p.S1584L	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S108L	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1584					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTTAAGAGGTGAGCTGTTGCT	0.428																																						dbGAP											0													100.0	91.0	94.0					14																	91745599		1914	4146	6060	-	-	-	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4751C>T	14.37:g.91745599G>A	ENSP00000374507:p.Ser1584Leu		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.S1584L	ENST00000389857.6	37	c.4751	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614015	0.87359	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.60424	1.93;0.19	5.14	5.14	0.70334	.	0.181104	0.26761	U	0.022632	T	0.76414	0.3984	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.78648	-0.2122	10	0.87932	D	0	-12.4143	18.7977	0.92001	0.0:0.0:1.0:0.0	.	1584;108;34	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	L	1584;108;108	ENSP00000374507:S1584L;ENSP00000330332:S108L	ENSP00000330332:S108L	S	-	2	0	CCDC88C	90815352	1.000000	0.71417	0.961000	0.40146	0.890000	0.51754	7.201000	0.77847	2.666000	0.90696	0.561000	0.74099	TCA	CCDC88C	-	NULL	ENSG00000015133		0.428	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	118	0.00	0	G	XM_029353		91745599	91745599	-1	no_errors	ENST00000389857	ensembl	human	known	69_37n	missense	88	12.00	12	SNP	0.998	A
CCDC88C	440193	genome.wustl.edu	37	14	91791240	91791240	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:91791240C>T	ENST00000389857.6	-	12	1311	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	409					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCAGCTCCTCAATTCGTTTC	0.552																																						dbGAP											0													117.0	125.0	122.0					14																	91791240		2063	4202	6265	-	-	-	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1225G>A	14.37:g.91791240C>T	ENSP00000374507:p.Glu409Lys		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.E409K	ENST00000389857.6	37	c.1225	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.744775	0.96882	.	.	ENSG00000015133	ENST00000389857	T	0.45276	0.9	5.76	5.76	0.90799	.	0.000000	0.48767	U	0.000166	T	0.66366	0.2782	M	0.70787	2.145	0.80722	D	1	D	0.60160	0.987	D	0.72075	0.976	T	0.67245	-0.5719	10	0.72032	D	0.01	-35.3583	19.9592	0.97233	0.0:1.0:0.0:0.0	.	409	Q9P219	DAPLE_HUMAN	K	409	ENSP00000374507:E409K	ENSP00000374507:E409K	E	-	1	0	CCDC88C	90860993	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	7.431000	0.80335	2.728000	0.93425	0.555000	0.69702	GAG	CCDC88C	-	pfam_HOOK	ENSG00000015133		0.552	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	111	0.00	0	C	XM_029353		91791240	91791240	-1	no_errors	ENST00000389857	ensembl	human	known	69_37n	missense	101	14.29	17	SNP	1.000	T
CCR4	1233	genome.wustl.edu	37	3	32995515	32995515	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:32995515C>T	ENST00000330953.5	+	2	769	c.601C>T	c.(601-603)Ctc>Ttc	p.L201F		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	201					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GTGGAAGGTTCTCAGCTCCCT	0.478																																						dbGAP											0													149.0	137.0	141.0					3																	32995515		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.601C>T	3.37:g.32995515C>T	ENSP00000332659:p.Leu201Phe		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.L201F	ENST00000330953.5	37	c.601	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.868373	0.00547	.	.	ENSG00000183813	ENST00000330953	T	0.38722	1.12	5.95	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.275088	0.25872	N	0.027742	T	0.12518	0.0304	N	0.01209	-0.955	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.34625	-0.9821	10	0.02654	T	1	.	6.7814	0.23648	0.2714:0.5922:0.0:0.1364	.	201	P51679	CCR4_HUMAN	F	201	ENSP00000332659:L201F	ENSP00000332659:L201F	L	+	1	0	CCR4	32970519	0.613000	0.27009	0.349000	0.25694	0.471000	0.32888	1.460000	0.35244	0.865000	0.35603	-0.808000	0.03180	CTC	CCR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR4,prints_ATII_rcpt	ENSG00000183813		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	32	0.00	0	C			32995515	32995515	+1	no_errors	ENST00000330953	ensembl	human	known	69_37n	missense	39	11.11	5	SNP	0.034	T
CD276	80381	genome.wustl.edu	37	15	73996053	73996053	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:73996053G>A	ENST00000318443.5	+	5	1089	c.787G>A	c.(787-789)Gat>Aat	p.D263N	CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.D117N|CD276_ENST00000561213.1_Missense_Mutation_p.D263N|CD276_ENST00000318424.5_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	263	Ig-like V-type 2.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						AGTGGGCACCGATGCCACCCT	0.662																																						dbGAP											0													29.0	28.0	28.0					15																	73996053		2197	4297	6494	-	-	-	SO:0001583	missense	0			AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.787G>A	15.37:g.73996053G>A	ENSP00000320084:p.Asp263Asn		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.D263N	ENST00000318443.5	37	c.787	CCDS32288.1	15	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045595	0.55110	.	.	ENSG00000103855	ENST00000318443;ENST00000379823;ENST00000537340	T;T	0.62232	0.04;0.04	4.84	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	L	0.39514	1.22	0.80722	D	1	D;P;D	0.89917	1.0;0.9;0.997	D;P;P	0.91635	0.999;0.74;0.888	T	0.60244	-0.7301	10	0.22109	T	0.4	-9.2591	9.8736	0.41189	0.1393:0.0:0.8607:0.0	.	209;263;263	B4DK26;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	N	263;263;117	ENSP00000320084:D263N;ENSP00000441087:D117N	ENSP00000320084:D263N	D	+	1	0	CD276	71783106	1.000000	0.71417	0.326000	0.25389	0.359000	0.29487	3.180000	0.50895	2.394000	0.81467	0.561000	0.74099	GAT	CD276	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000103855		0.662	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD276	HGNC	protein_coding	OTTHUMT00000268979.1	11	0.00	0	G	NM_025240		73996053	73996053	+1	no_errors	ENST00000318443	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.878	A
CD8A	925	genome.wustl.edu	37	2	87015674	87015674	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:87015674C>T	ENST00000409511.2	-	8	1665	c.635G>A	c.(634-636)aGa>aAa	p.R212K	CD8A_ENST00000409781.1_Missense_Mutation_p.R175K|CD8A_ENST00000538832.1_Missense_Mutation_p.R253K|CD8A_ENST00000283635.3_Missense_Mutation_p.R212K|CD8A_ENST00000352580.3_Missense_Mutation_p.R175K|CD8A_ENST00000456996.2_Missense_Mutation_p.R175K	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	212					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GCAAACACGTCTTCGGTTCCC	0.493																																						dbGAP											0													57.0	56.0	56.0					2																	87015674		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.635G>A	2.37:g.87015674C>T	ENSP00000386559:p.Arg212Lys		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R253K	ENST00000409511.2	37	c.758	CCDS1992.1	2	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416372	0.42918	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.41;-1.41;-1.47;-1.31	4.95	3.12	0.35913	.	0.389276	0.29806	N	0.011156	T	0.75729	0.3889	M	0.64997	1.995	0.23936	N	0.99642	P;P;B	0.46142	0.799;0.873;0.176	B;B;B	0.43225	0.234;0.412;0.113	T	0.64748	-0.6334	10	0.30078	T	0.28	-10.4118	7.9769	0.30159	0.0:0.8141:0.0:0.1859	.	253;175;212	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	K	175;175;212;212;197;253;175	ENSP00000398868:R175K;ENSP00000321631:R175K;ENSP00000283635:R212K;ENSP00000386559:R212K;ENSP00000438371:R253K;ENSP00000387314:R175K	ENSP00000283635:R212K	R	-	2	0	CD8A	86869185	0.030000	0.19436	0.600000	0.28864	0.953000	0.61014	0.372000	0.20467	0.772000	0.33382	0.561000	0.74099	AGA	CD8A	-	NULL	ENSG00000153563		0.493	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	39	0.00	0	C	NM_001768		87015674	87015674	-1	no_errors	ENST00000538832	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	0.767	T
CD96	10225	genome.wustl.edu	37	3	111342638	111342638	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:111342638G>C	ENST00000283285.5	+	10	1397	c.1266G>C	c.(1264-1266)gtG>gtC	p.V422V	CD96_ENST00000352690.4_Silent_p.V406V	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	422	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTGTAGATGTGAGTGCCTTGA	0.378									Opitz Trigonocephaly syndrome																													dbGAP											0													98.0	88.0	92.0					3																	111342638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1266G>C	3.37:g.111342638G>C			Q5JPB3	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.V422	ENST00000283285.5	37	c.1266	CCDS2959.1	3																																																																																			CD96	-	NULL	ENSG00000153283		0.378	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	70	0.00	0	G			111342638	111342638	+1	no_errors	ENST00000283285	ensembl	human	known	69_37n	silent	41	14.58	7	SNP	0.002	C
CDC42BPA	8476	genome.wustl.edu	37	1	227307612	227307612	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:227307612C>T	ENST00000366769.3	-	12	2831	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E514K|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E514K|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E514K|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E514K|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E514K|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E514K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTAGCTTCTTCAAGTTGCTGT	0.308																																						dbGAP											0													100.0	90.0	94.0					1																	227307612		2200	4297	6497	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1540G>A	1.37:g.227307612C>T	ENSP00000355731:p.Glu514Lys			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E514K	ENST00000366769.3	37	c.1540	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454711	0.63290	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68765	-0.32;-0.23;-0.33;-0.33;-0.33;-0.3;-0.35	5.66	4.73	0.59995	.	0.091610	0.85682	D	0.000000	T	0.62171	0.2406	L	0.41961	1.31	0.52099	D	0.999946	P;B;P;B	0.47545	0.897;0.096;0.787;0.317	B;B;B;B	0.42625	0.393;0.028;0.298;0.06	T	0.64045	-0.6499	10	0.44086	T	0.13	.	16.5265	0.84332	0.0:0.8692:0.1308:0.0	.	514;514;514;514	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	K	514	ENSP00000355731:E514K;ENSP00000355729:E514K;ENSP00000335341:E514K;ENSP00000355728:E514K;ENSP00000355726:E514K;ENSP00000443275:E514K;ENSP00000355727:E514K	ENSP00000335341:E514K	E	-	1	0	CDC42BPA	225374235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.371000	0.66150	1.333000	0.45449	0.650000	0.86243	GAA	CDC42BPA	-	NULL	ENSG00000143776		0.308	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	125	0.00	0	C	NM_014826		227307612	227307612	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	120	21.57	33	SNP	1.000	T
CDC42EP4	23580	genome.wustl.edu	37	17	71282177	71282177	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:71282177C>G	ENST00000335793.3	-	2	857	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.E85Q			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	155					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGCCTCCTCATCGCCGCCC	0.662																																						dbGAP											0													42.0	40.0	40.0					17																	71282177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.463G>C	17.37:g.71282177C>G	ENSP00000338258:p.Glu155Gln		B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.E155Q	ENST00000335793.3	37	c.463	CCDS11695.1	17	.	.	.	.	.	.	.	.	.	.	C	0.950	-0.706566	0.03230	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.30182	1.54;1.54	4.67	2.62	0.31277	.	1.093920	0.07230	N	0.862353	T	0.24586	0.0596	L	0.40543	1.245	0.38591	D	0.95042	B;B	0.15141	0.012;0.007	B;B	0.09377	0.004;0.004	T	0.09079	-1.0691	10	0.13853	T	0.58	.	8.8432	0.35155	0.0:0.7629:0.1513:0.0859	.	85;155	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	Q	155;85	ENSP00000338258:E155Q;ENSP00000404270:E85Q	ENSP00000338258:E155Q	E	-	1	0	CDC42EP4	68793772	0.016000	0.18221	0.024000	0.17045	0.039000	0.13416	0.731000	0.26058	0.370000	0.24538	0.484000	0.47621	GAG	CDC42EP4	-	NULL	ENSG00000179604		0.662	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	18	0.00	0	C	NM_012121		71282177	71282177	-1	no_errors	ENST00000335793	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.394	G
CDC7	8317	genome.wustl.edu	37	1	91981408	91981408	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:91981408G>C	ENST00000428239.1	+	10	1414	c.1155G>C	c.(1153-1155)ttG>ttC	p.L385F	CDC7_ENST00000234626.6_Missense_Mutation_p.L385F|CDC7_ENST00000430031.2_Missense_Mutation_p.L357F	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CAGAGGTCTTGACAAAGTGCC	0.398																																						dbGAP											0													88.0	81.0	84.0					1																	91981408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1155G>C	1.37:g.91981408G>C	ENSP00000393139:p.Leu385Phe		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L385F	ENST00000428239.1	37	c.1155	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275794	0.59649	.	.	ENSG00000097046	ENST00000370415;ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.70516	-0.49;-0.49;-0.49	5.84	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.41492	1.28	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.70695	-0.4801	10	0.87932	D	0	-6.4307	6.2048	0.20595	0.2639:0.1292:0.6069:0.0	.	357;385;385	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	F	48;357;385;385	ENSP00000407477:L357F;ENSP00000234626:L385F;ENSP00000393139:L385F	ENSP00000234626:L385F	L	+	3	2	CDC7	91753996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.237000	0.32695	0.829000	0.34733	-0.259000	0.10710	TTG	CDC7	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000097046		0.398	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	44	0.00	0	G	NM_003503		91981408	91981408	+1	no_errors	ENST00000234626	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.995	C
CDH1	999	genome.wustl.edu	37	16	68842438	68842439	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:68842438_68842439insA	ENST00000261769.5	+	4	690_691	c.499_500insA	c.(499-501)gaafs	p.E167fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.E167fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	167	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.V157_Q177del(1)|p.E165_P170del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCAGAAAATGAAAAAGGCCCA	0.465			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(2)|Deletion - In frame(2)	breast(2)|lung(1)|stomach(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.504dupA	16.37:g.68842443_68842443dupA	ENSP00000261769:p.Glu167fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G169fs	ENST00000261769.5	37	c.499_500	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000039068		0.465	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	52	0.00	0	-	NM_004360		68842438	68842439	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	28	26.32	10	INS	1.000:1.000	A
CDHR1	92211	genome.wustl.edu	37	10	85961629	85961629	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:85961629C>G	ENST00000372117.3	+	7	695	c.592C>G	c.(592-594)Ctg>Gtg	p.L198V	CDHR1_ENST00000332904.3_Missense_Mutation_p.L198V|CDHR1_ENST00000440770.2_5'Flank	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGGGGCCACTCTGGACTACGA	0.612																																						dbGAP											0													62.0	66.0	65.0					10																	85961629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.592C>G	10.37:g.85961629C>G	ENSP00000361189:p.Leu198Val		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L198V	ENST00000372117.3	37	c.592	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936983	0.52972	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.73152	-0.72;-0.72	5.25	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.155314	0.43416	D	0.000580	T	0.79724	0.4495	M	0.68317	2.08	0.80722	D	1	D;D	0.62365	0.991;0.986	D;P	0.63381	0.914;0.901	T	0.81512	-0.0899	10	0.87932	D	0	-7.3826	11.3514	0.49589	0.0:0.9135:0.0:0.0865	.	198;198	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	V	198	ENSP00000331063:L198V;ENSP00000361189:L198V	ENSP00000331063:L198V	L	+	1	2	CDHR1	85951609	0.331000	0.24713	0.905000	0.35620	0.559000	0.35586	0.868000	0.27982	1.352000	0.45808	0.655000	0.94253	CTG	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.612	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	71	0.00	0	C	NM_033100		85961629	85961629	+1	no_errors	ENST00000372117	ensembl	human	known	69_37n	missense	51	16.13	10	SNP	0.993	G
CDK11A	728642	genome.wustl.edu	37	1	1635704	1635704	+	Silent	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:1635704G>T	ENST00000378633.1	-	15	1732	c.1653C>A	c.(1651-1653)ctC>ctA	p.L551L	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Silent_p.L538L|CDK11A_ENST00000495016.1_5'UTR|CDK11A_ENST00000378638.2_Silent_p.L514L|CDK11A_ENST00000356200.3_Silent_p.L514L|CDK11A_ENST00000357760.2_Silent_p.L547L|CDK11A_ENST00000404249.3_Silent_p.L548L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TGGACGTCTTGAGGTCACGGT	0.672																																					Pancreas(186;965 2119 30274 40311 50569)	dbGAP											0													61.0	70.0	67.0					1																	1635704		2039	4174	6213	-	-	-	SO:0001819	synonymous_variant	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1653C>A	1.37:g.1635704G>T			O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L548	ENST00000378633.1	37	c.1644		1																																																																																			CDK11A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000008128		0.672	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	79	0.00	0	G	NM_024011		1635704	1635704	-1	no_errors	ENST00000404249	ensembl	human	known	69_37n	silent	40	39.39	26	SNP	0.999	T
CDK11B	984	genome.wustl.edu	37	1	1586887	1586887	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:1586887C>T	ENST00000407249.3	-	2	162	c.163G>A	c.(163-165)Gat>Aat	p.D55N	CDK11B_ENST00000317673.7_Missense_Mutation_p.D55N|CDK11B_ENST00000341832.6_Missense_Mutation_p.D21N|CDK11B_ENST00000340677.5_Missense_Mutation_p.D55N			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	55					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atgcggtgatctctcagctcc	0.448																																						dbGAP											0													93.0	87.0	89.0					1																	1586887		1859	4094	5953	-	-	-	SO:0001583	missense	0			AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.163G>A	1.37:g.1586887C>T	ENSP00000464036:p.Asp55Asn		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D55N	ENST00000407249.3	37	c.163		1																																																																																			CDK11B	-	NULL	ENSG00000248333		0.448	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	CDK11B	HGNC	protein_coding		113	0.00	0	C	NM_001787		1586887	1586887	-1	no_errors	ENST00000407249	ensembl	human	known	69_37n	missense	113	23.65	35	SNP	1.000	T
CDK11A	728642	genome.wustl.edu	37	1	1647826	1647826	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:1647826C>T	ENST00000378633.1	-	5	496	c.417G>A	c.(415-417)caG>caA	p.Q139Q	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Silent_p.Q139Q|CDK11A_ENST00000378635.3_Silent_p.Q139Q|CDK11A_ENST00000378638.2_Silent_p.Q115Q|CDK11A_ENST00000356200.3_Silent_p.Q115Q|CDK11A_ENST00000357760.2_Silent_p.Q139Q|CDK11A_ENST00000404249.3_Silent_p.Q149Q			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	139	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCCTTCTCTTCTGTCTTTCCC	0.502																																					Pancreas(186;965 2119 30274 40311 50569)	dbGAP											0													228.0	230.0	229.0					1																	1647826		1999	4166	6165	-	-	-	SO:0001819	synonymous_variant	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.417G>A	1.37:g.1647826C>T			O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q149	ENST00000378633.1	37	c.447		1	.	.	.	.	.	.	.	.	.	.	C	6.884	0.532466	0.13127	.	.	ENSG00000008128	ENST00000341028	.	.	.	4.56	1.34	0.21922	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49214	-0.8963	5	0.33940	T	0.23	.	8.8728	0.35327	0.0:0.7343:0.0:0.2657	.	.	.	.	K	5	.	ENSP00000344418:E5K	E	-	1	0	CDK11A	1637686	1.000000	0.71417	0.987000	0.45799	0.710000	0.40934	2.480000	0.45206	0.102000	0.17638	0.543000	0.68304	GAA	CDK11A	-	NULL	ENSG00000008128		0.502	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	294	0.00	0	C	NM_024011		1647826	1647826	-1	no_errors	ENST00000404249	ensembl	human	known	69_37n	silent	203	17.41	43	SNP	1.000	T
CDK17	5128	genome.wustl.edu	37	12	96691099	96691099	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:96691099C>T	ENST00000261211.3	-	9	1425	c.822G>A	c.(820-822)ctG>ctA	p.L274L	CDK17_ENST00000543119.2_Silent_p.L274L|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Silent_p.L221L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGTACTGTTTCAGGTCTTTAT	0.343																																						dbGAP											0													173.0	142.0	153.0					12																	96691099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.822G>A	12.37:g.96691099C>T			A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L274	ENST00000261211.3	37	c.822	CCDS9061.1	12																																																																																			CDK17	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000059758		0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK17	HGNC	protein_coding	OTTHUMT00000408751.1	98	0.00	0	C	NM_002595		96691099	96691099	-1	no_errors	ENST00000261211	ensembl	human	known	69_37n	silent	69	30.30	30	SNP	0.995	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123301349	123301349	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:123301349G>C	ENST00000349780.4	-	6	656	c.477C>G	c.(475-477)ctC>ctG	p.L159L	CDK5RAP2_ENST00000360190.4_Silent_p.L159L|CDK5RAP2_ENST00000359309.3_Silent_p.L159L|CDK5RAP2_ENST00000360822.3_Silent_p.L159L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	159					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTTTAGTTAGGAGATCTTCCA	0.443																																						dbGAP											0													189.0	187.0	188.0					9																	123301349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.477C>G	9.37:g.123301349G>C			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.L159	ENST00000349780.4	37	c.477	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL	ENSG00000136861		0.443	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	153	0.00	0	G	NM_018249		123301349	123301349	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	silent	94	21.01	25	SNP	0.583	C
CEACAM8	1088	genome.wustl.edu	37	19	43093885	43093885	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:43093885C>T	ENST00000244336.5	-	3	528	c.427G>A	c.(427-429)Gag>Aag	p.E143K	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	143					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTGGGAGTCTCCGCTGTGCAG	0.522																																						dbGAP											0													140.0	137.0	138.0					19																	43093885		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.427G>A	19.37:g.43093885C>T	ENSP00000244336:p.Glu143Lys		O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E143K	ENST00000244336.5	37	c.427	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	c	12.31	1.899741	0.33535	.	.	ENSG00000124469	ENST00000244336	T	0.18657	2.2	2.7	-1.18	0.09617	.	.	.	.	.	T	0.21062	0.0507	M	0.70787	2.145	0.09310	N	1	B	0.19073	0.033	B	0.29942	0.109	T	0.40021	-0.9585	9	0.38643	T	0.18	.	2.7414	0.05254	0.0:0.4167:0.2549:0.3284	.	143	P31997	CEAM8_HUMAN	K	143	ENSP00000244336:E143K	ENSP00000244336:E143K	E	-	1	0	CEACAM8	47785725	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.082000	0.03400	0.049000	0.15920	0.313000	0.20887	GAG	CEACAM8	-	NULL	ENSG00000124469		0.522	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	72	0.00	0	C			43093885	43093885	-1	no_errors	ENST00000244336	ensembl	human	known	69_37n	missense	80	15.79	15	SNP	0.000	T
CELA1	1990	genome.wustl.edu	37	12	51737591	51737591	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:51737591C>G	ENST00000293636.1	-	3	186	c.146G>C	c.(145-147)gGa>gCa	p.G49A		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	49	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AAGGGTCCCTCCACAGGTGTG	0.502																																						dbGAP											0													54.0	47.0	50.0					12																	51737591		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.146G>C	12.37:g.51737591C>G	ENSP00000293636:p.Gly49Ala		Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G49A	ENST00000293636.1	37	c.146	CCDS8812.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558702	0.86231	.	.	ENSG00000139610	ENST00000293636	D	0.93604	-3.25	4.9	4.9	0.64082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	M	0.75447	2.3	0.80722	D	1	D	0.63880	0.993	D	0.64042	0.921	D	0.96443	0.9328	10	0.66056	D	0.02	-3.9142	17.2376	0.87004	0.0:1.0:0.0:0.0	.	49	Q9UNI1	CELA1_HUMAN	A	49	ENSP00000293636:G49A	ENSP00000293636:G49A	G	-	2	0	CELA1	50023858	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.204000	0.77872	2.455000	0.83008	0.551000	0.68910	GGA	CELA1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000139610		0.502	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA1	HGNC	protein_coding	OTTHUMT00000394901.1	68	0.00	0	C	NM_001971		51737591	51737591	-1	no_errors	ENST00000293636	ensembl	human	known	69_37n	missense	38	22.00	11	SNP	1.000	G
CELF2	10659	genome.wustl.edu	37	10	11259429	11259429	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:11259429G>C	ENST00000379261.4	+	3	384	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	CELF2_ENST00000450189.1_Missense_Mutation_p.E105Q|CELF2_ENST00000537122.1_Intron|CELF2_ENST00000608830.1_Missense_Mutation_p.E74Q|CELF2_ENST00000416382.2_Missense_Mutation_p.E98Q|CELF2_ENST00000315874.4_Missense_Mutation_p.E74Q|CELF2_ENST00000417956.2_Missense_Mutation_p.E74Q|CELF2_ENST00000542579.1_Missense_Mutation_p.E105Q|CELF2_ENST00000354897.3_Missense_Mutation_p.E74Q|CELF2_ENST00000609692.1_Missense_Mutation_p.E74Q|CELF2_ENST00000399850.3_Missense_Mutation_p.E74Q|CELF2_ENST00000427450.1_Missense_Mutation_p.E74Q|CELF2_ENST00000354440.2_Missense_Mutation_p.E74Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	98	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGCTGCACTTGAGGCCCAGAA	0.353																																						dbGAP											0													130.0	125.0	126.0					10																	11259429		1849	4090	5939	-	-	-	SO:0001583	missense	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.292G>C	10.37:g.11259429G>C	ENSP00000368563:p.Glu98Gln		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.E105Q	ENST00000379261.4	37	c.313	CCDS44354.1	10	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263416	0.80358	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.54	5.54	0.83059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	N	0.16903	0.455	0.80722	D	1	D;D;B;P;D;D	0.76494	0.999;0.998;0.427;0.533;0.999;0.999	D;D;B;B;D;D	0.87578	0.998;0.968;0.077;0.11;0.996;0.998	T	0.08289	-1.0729	10	0.51188	T	0.08	-17.968	19.8403	0.96679	0.0:0.0:1.0:0.0	.	82;98;93;105;93;98	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	Q	98;98;105;105;74;74;74;74;74;74	ENSP00000368563:E98Q;ENSP00000406451:E98Q;ENSP00000389951:E105Q;ENSP00000443926:E105Q;ENSP00000382743:E74Q;ENSP00000404834:E74Q;ENSP00000315328:E74Q;ENSP00000346426:E74Q;ENSP00000388530:E74Q	ENSP00000315328:E74Q	E	+	1	0	CELF2	11299435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.771000	0.95319	0.655000	0.94253	GAG	CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000048740		0.353	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		110	0.00	0	G			11259429	11259429	+1	no_errors	ENST00000450189	ensembl	human	known	69_37n	missense	108	10.66	13	SNP	1.000	C
CENPE	1062	genome.wustl.edu	37	4	104066736	104066736	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:104066736C>G	ENST00000265148.3	-	31	4605	c.4516G>C	c.(4516-4518)Gaa>Caa	p.E1506Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1481Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTGATATTTCAGTTTCCTTC	0.368																																						dbGAP											0													145.0	149.0	147.0					4																	104066736		2202	4299	6501	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4516G>C	4.37:g.104066736C>G	ENSP00000265148:p.Glu1506Gln		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E1506Q	ENST00000265148.3	37	c.4516	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447238	0.25987	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71817	-0.45;-0.6	5.1	2.84	0.33178	.	.	.	.	.	T	0.76234	0.3959	L	0.55213	1.73	0.21020	N	0.999807	D;P	0.71674	0.998;0.675	D;B	0.80764	0.994;0.13	T	0.61700	-0.7009	9	0.31617	T	0.26	.	6.5077	0.22204	0.0:0.5883:0.3071:0.1046	.	1481;1506	Q02224-3;Q02224	.;CENPE_HUMAN	Q	1506;1506;1481	ENSP00000265148:E1506Q;ENSP00000369365:E1481Q	ENSP00000265148:E1506Q	E	-	1	0	CENPE	104286185	0.545000	0.26449	0.945000	0.38365	0.075000	0.17131	1.113000	0.31184	2.361000	0.80049	0.643000	0.83706	GAA	CENPE	-	superfamily_Signal_recog_particl_SRP54_hlx	ENSG00000138778		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		133	0.00	0	C			104066736	104066736	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	107	15.75	20	SNP	0.539	G
CENPE	1062	genome.wustl.edu	37	4	104067141	104067141	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:104067141C>G	ENST00000265148.3	-	30	4347	c.4258G>C	c.(4258-4260)Gaa>Caa	p.E1420Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1395Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1420					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTCTATTTCTATCCTTAGT	0.368																																						dbGAP											0													154.0	143.0	147.0					4																	104067141		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4258G>C	4.37:g.104067141C>G	ENSP00000265148:p.Glu1420Gln		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E1420Q	ENST00000265148.3	37	c.4258	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248260	0.22880	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71698	-0.59;-0.59	5.14	4.29	0.51040	.	.	.	.	.	T	0.72317	0.3445	M	0.74881	2.28	0.09310	N	1	P;P	0.52061	0.95;0.92	P;B	0.47705	0.555;0.255	T	0.63107	-0.6711	9	0.23302	T	0.38	.	9.9598	0.41688	0.0:0.8441:0.0:0.1559	.	1395;1420	Q02224-3;Q02224	.;CENPE_HUMAN	Q	1420;1420;1395	ENSP00000265148:E1420Q;ENSP00000369365:E1395Q	ENSP00000265148:E1420Q	E	-	1	0	CENPE	104286590	0.000000	0.05858	0.605000	0.28930	0.225000	0.24961	0.342000	0.19926	2.392000	0.81423	0.643000	0.83706	GAA	CENPE	-	NULL	ENSG00000138778		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		124	0.00	0	C			104067141	104067141	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	108	14.84	19	SNP	0.090	G
CENPJ	55835	genome.wustl.edu	37	13	25479707	25479707	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:25479707C>T	ENST00000381884.4	-	7	2654	c.2469G>A	c.(2467-2469)caG>caA	p.Q823Q	CENPJ_ENST00000545981.1_Silent_p.Q823Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	823					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGTAGCATGTCTGCGGCGTCC	0.418																																						dbGAP											0													151.0	134.0	140.0					13																	25479707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2469G>A	13.37:g.25479707C>T			Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	pfam_Tcp10/CenJ_C	p.Q823	ENST00000381884.4	37	c.2469	CCDS9310.1	13																																																																																			CENPJ	-	NULL	ENSG00000151849		0.418	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	57	0.00	0	C	NM_018451		25479707	25479707	-1	no_errors	ENST00000381884	ensembl	human	known	69_37n	silent	54	16.92	11	SNP	0.000	T
CEP152	22995	genome.wustl.edu	37	15	49048259	49048259	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:49048259G>A	ENST00000380950.2	-	20	3373	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	CEP152_ENST00000325747.5_Silent_p.I969I|CEP152_ENST00000399334.3_Silent_p.I1062I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1062					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CAGAATCACTGATGTGCTCCT	0.418																																						dbGAP											0													155.0	143.0	147.0					15																	49048259		1903	4118	6021	-	-	-	SO:0001819	synonymous_variant	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3186C>T	15.37:g.49048259G>A			E7ER66|Q17RV1|Q6NTA0	Silent	SNP	NULL	p.I1062	ENST00000380950.2	37	c.3186	CCDS58361.1	15																																																																																			CEP152	-	NULL	ENSG00000103995		0.418	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	99	0.00	0	G	NM_014985		49048259	49048259	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	silent	72	28.43	29	SNP	0.000	A
CEP350	9857	genome.wustl.edu	37	1	179983440	179983440	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:179983440C>G	ENST00000367607.3	+	10	2270	c.1852C>G	c.(1852-1854)Caa>Gaa	p.Q618E		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	618					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGAAGGCTCAAAAGGAGGC	0.433																																						dbGAP											0													67.0	65.0	66.0					1																	179983440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1852C>G	1.37:g.179983440C>G	ENSP00000356579:p.Gln618Glu		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q618E	ENST00000367607.3	37	c.1852	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417423	0.83449	.	.	ENSG00000135837	ENST00000367607	D	0.87729	-2.29	5.6	5.6	0.85130	.	0.000000	0.47093	D	0.000255	D	0.89839	0.6831	L	0.36672	1.1	0.53688	D	0.999978	D;D	0.60160	0.969;0.987	D;P	0.64877	0.93;0.831	D	0.87994	0.2751	9	.	.	.	.	18.7527	0.91821	0.0:1.0:0.0:0.0	.	618;618	E7EU22;Q5VT06	.;CE350_HUMAN	E	618	ENSP00000356579:Q618E	.	Q	+	1	0	CEP350	178250063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.322000	0.59215	2.788000	0.95919	0.650000	0.86243	CAA	CEP350	-	NULL	ENSG00000135837		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	69	0.00	0	C	NM_014810		179983440	179983440	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	76	25.49	26	SNP	1.000	G
CEP350	9857	genome.wustl.edu	37	1	179989696	179989696	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:179989696G>C	ENST00000367607.3	+	12	3205	c.2787G>C	c.(2785-2787)caG>caC	p.Q929H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	929					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAGACCACAGAGTGCCATAT	0.438																																						dbGAP											0													72.0	72.0	72.0					1																	179989696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2787G>C	1.37:g.179989696G>C	ENSP00000356579:p.Gln929His		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q929H	ENST00000367607.3	37	c.2787	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	4.753	0.139932	0.09083	.	.	ENSG00000135837	ENST00000367607	T	0.13778	2.56	6.02	0.354	0.16063	.	0.268702	0.26079	N	0.026465	T	0.03477	0.0100	N	0.02247	-0.625	0.25715	N	0.985433	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36841	-0.9731	9	.	.	.	.	1.9109	0.03287	0.1024:0.2612:0.217:0.4193	.	929;929	E7EU22;Q5VT06	.;CE350_HUMAN	H	929	ENSP00000356579:Q929H	.	Q	+	3	2	CEP350	178256319	0.997000	0.39634	0.983000	0.44433	0.997000	0.91878	0.183000	0.16919	-0.133000	0.11537	0.655000	0.94253	CAG	CEP350	-	NULL	ENSG00000135837		0.438	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	41	0.00	0	G	NM_014810		179989696	179989696	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.998	C
CES5A	221223	genome.wustl.edu	37	16	55905576	55905576	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:55905576G>C	ENST00000290567.9	-	3	499	c.378C>G	c.(376-378)atC>atG	p.I126M	CES5A_ENST00000319165.9_Missense_Mutation_p.I126M|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000521992.1_Missense_Mutation_p.I155M|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.I20M	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	126						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGGCGCATAGATGTTCAGGT	0.567																																						dbGAP											0													99.0	76.0	84.0					16																	55905576		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.378C>G	16.37:g.55905576G>C	ENSP00000290567:p.Ile126Met		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.I155M	ENST00000290567.9	37	c.465	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909286	0.33721	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000536025	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.14	3.14	0.36123	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.48286	D	0.000193	D	0.86936	0.6053	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	0.971;1.0	D;D	0.80764	0.924;0.994	D	0.86812	0.1999	10	0.87932	D	0	.	6.6596	0.23007	0.215:0.0:0.785:0.0	.	126;126	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	M	155;126;20;126;20	ENSP00000428864:I155M;ENSP00000324271:I126M;ENSP00000428571:I20M;ENSP00000290567:I126M;ENSP00000439810:I20M	ENSP00000290567:I126M	I	-	3	3	CES5A	54463077	1.000000	0.71417	0.989000	0.46669	0.069000	0.16628	0.947000	0.29082	1.267000	0.44247	0.655000	0.94253	ATC	CES5A	-	pfam_CarbesteraseB	ENSG00000159398		0.567	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	54	0.00	0	G	NM_145024		55905576	55905576	-1	no_errors	ENST00000521992	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	0.997	C
CFTR	1080	genome.wustl.edu	37	7	117232054	117232054	+	Missense_Mutation	SNP	G	G	C	rs121908777		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:117232054G>C	ENST00000003084.6	+	14	1965	c.1833G>C	c.(1831-1833)aaG>aaC	p.K611N	CFTR_ENST00000454343.1_Missense_Mutation_p.K550N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	611	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AACATTTAAAGAAAGCTGACA	0.303									Cystic Fibrosis																													dbGAP											0													47.0	54.0	51.0					7																	117232054		2201	4300	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1833G>C	7.37:g.117232054G>C	ENSP00000003084:p.Lys611Asn		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.K611N	ENST00000003084.6	37	c.1833	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092039	0.76756	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90732	-2.72;-2.72;-2.72	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.085187	0.85682	D	0.000000	D	0.91727	0.7384	L	0.41573	1.285	0.80722	D	1	D	0.61080	0.989	P	0.61477	0.889	D	0.91949	0.5569	10	0.72032	D	0.01	-9.4963	13.0056	0.58703	0.0741:0.0:0.9259:0.0	.	611	P13569	CFTR_HUMAN	N	611;550;581	ENSP00000003084:K611N;ENSP00000403677:K550N;ENSP00000389119:K581N	ENSP00000003084:K611N	K	+	3	2	CFTR	117019290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.531000	0.53546	2.722000	0.93159	0.563000	0.77884	AAG	CFTR	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.303	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	24	0.00	0	G	NM_000492		117232054	117232054	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	1.000	C
CHAF1A	10036	genome.wustl.edu	37	19	4422727	4422727	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:4422727G>C	ENST00000301280.5	+	5	1283	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	394	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		agaaggatgagaaggagaagg	0.607								Chromatin Structure																														dbGAP											0													91.0	89.0	90.0					19																	4422727		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1182G>C	19.37:g.4422727G>C	ENSP00000301280:p.Glu394Asp		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.E394D	ENST00000301280.5	37	c.1182	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667192	0.47677	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.08282	3.11	5.35	-0.593	0.11667	.	.	.	.	.	T	0.11024	0.0269	N	0.12746	0.255	0.51767	D	0.999939	D	0.76494	0.999	D	0.76071	0.987	T	0.18366	-1.0339	9	0.87932	D	0	-17.1668	8.6239	0.33877	0.3978:0.0:0.6022:0.0	.	394	Q13111	CAF1A_HUMAN	D	394	ENSP00000301280:E394D	ENSP00000301280:E394D	E	+	3	2	CHAF1A	4373727	0.946000	0.32159	0.990000	0.47175	0.992000	0.81027	-0.132000	0.10467	0.009000	0.14813	0.655000	0.94253	GAG	CHAF1A	-	NULL	ENSG00000167670		0.607	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	104	0.00	0	G	NM_005483		4422727	4422727	+1	no_errors	ENST00000301280	ensembl	human	known	69_37n	missense	55	31.71	26	SNP	0.997	C
CHD3	1107	genome.wustl.edu	37	17	7809182	7809182	+	Silent	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:7809182C>A	ENST00000330494.7	+	28	4383	c.4233C>A	c.(4231-4233)ggC>ggA	p.G1411G	CHD3_ENST00000380358.4_Silent_p.G1470G|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.G1411G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1411					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGGTGCTGGGCTTCAACACCC	0.572																																						dbGAP											0													135.0	127.0	130.0					17																	7809182		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4233C>A	17.37:g.7809182C>A			D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1411	ENST00000330494.7	37	c.4233	CCDS32554.1	17																																																																																			CHD3	-	pfam_DUF1086	ENSG00000170004		0.572	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	43	0.00	0	C	NM_001005273		7809182	7809182	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	silent	24	21.88	7	SNP	0.626	A
CHD7	55636	genome.wustl.edu	37	8	61654172	61654172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:61654172C>T	ENST00000423902.2	+	2	660	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q61*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q61*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	61					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCAACTAATCAAAATCAAAC	0.413																																						dbGAP											0													80.0	75.0	77.0					8																	61654172		1970	4162	6132	-	-	-	SO:0001587	stop_gained	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.181C>T	8.37:g.61654172C>T	ENSP00000392028:p.Gln61*		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q61*	ENST00000423902.2	37	c.181	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.591767	0.97688	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	.	.	.	5.1	5.1	0.69264	.	0.000000	0.36134	N	0.002770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.6216	18.5073	0.90902	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000307304:Q61X	Q	+	1	0	CHD7	61816726	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.990000	0.70595	2.381000	0.81170	0.585000	0.79938	CAA	CHD7	-	NULL	ENSG00000171316		0.413	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	63	0.00	0	C	XM_098762		61654172	61654172	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	nonsense	45	26.23	16	SNP	1.000	T
CHFR	55743	genome.wustl.edu	37	12	133446307	133446307	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:133446307C>T	ENST00000432561.2	-	6	590	c.517G>A	c.(517-519)Gag>Aag	p.E173K	CHFR_ENST00000541837.2_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000315585.7_Intron|CHFR_ENST00000266880.7_Missense_Mutation_p.E173K|CHFR_ENST00000450056.2_Missense_Mutation_p.E161K			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	173					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGTGGTTCCTCAAAGCACACC	0.622																																						dbGAP											0													89.0	96.0	94.0					12																	133446307		692	1591	2283	-	-	-	SO:0001583	missense	0			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.517G>A	12.37:g.133446307C>T	ENSP00000392395:p.Glu173Lys		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.E173K	ENST00000432561.2	37	c.517	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.197679	0.94997	.	.	ENSG00000072609	ENST00000450056;ENST00000266880;ENST00000432561;ENST00000541817;ENST00000540963;ENST00000542714	T;T;T	0.19806	2.36;2.12;2.38	5.55	4.65	0.58169	.	0.098580	0.64402	D	0.000002	T	0.43787	0.1263	M	0.61703	1.905	0.52501	D	0.999951	D;D;P	0.76494	0.999;0.998;0.918	D;D;B	0.71184	0.972;0.938;0.379	T	0.40664	-0.9551	10	0.59425	D	0.04	-21.2138	15.9356	0.79704	0.0:0.8642:0.1358:0.0	.	173;173;161	Q96EP1-4;Q96EP1;Q96EP1-2	.;CHFR_HUMAN;.	K	161;173;173;33;161;45	ENSP00000398735:E161K;ENSP00000266880:E173K;ENSP00000392395:E173K	ENSP00000266880:E173K	E	-	1	0	CHFR	131956380	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	2.545000	0.45769	1.312000	0.45043	0.543000	0.68304	GAG	CHFR	-	NULL	ENSG00000072609		0.622	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	35	0.00	0	C			133446307	133446307	-1	no_errors	ENST00000266880	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	1.000	T
CIITA	4261	genome.wustl.edu	37	16	10989596	10989596	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:10989596G>C	ENST00000324288.8	+	3	403	c.270G>C	c.(268-270)gaG>gaC	p.E90D	CIITA_ENST00000381835.5_Missense_Mutation_p.E90D|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	90	Asp/Glu-rich (acidic).				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTGATGAAGAGACCAGGGAGG	0.507			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													103.0	93.0	97.0					16																	10989596		2197	4300	6497	-	-	-	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.270G>C	16.37:g.10989596G>C	ENSP00000316328:p.Glu90Asp		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.E90D	ENST00000324288.8	37	c.270	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963759	0.53507	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75154	-0.91;1.44	4.48	3.44	0.39384	.	0.591113	0.14487	N	0.316613	T	0.79551	0.4465	L	0.48642	1.525	0.22050	N	0.9994	D;P;P;P;D;D	0.76494	0.999;0.882;0.934;0.934;0.992;0.996	D;B;P;P;P;P	0.81914	0.995;0.332;0.633;0.633;0.845;0.817	T	0.66126	-0.6001	10	0.35671	T	0.21	.	9.8997	0.41340	0.0:0.208:0.792:0.0	.	90;90;90;90;90;90	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	D	90	ENSP00000316328:E90D;ENSP00000371257:E90D	ENSP00000316328:E90D	E	+	3	2	CIITA	10897097	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	0.828000	0.27435	2.217000	0.71921	0.655000	0.94253	GAG	CIITA	-	prints_MHC_II_transact	ENSG00000179583		0.507	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	65	0.00	0	G	NM_000246		10989596	10989596	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	C
CKAP5	9793	genome.wustl.edu	37	11	46810261	46810261	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:46810261C>G	ENST00000529230.1	-	16	1984	c.1938G>C	c.(1936-1938)aaG>aaC	p.K646N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K646N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K646N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K646N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	646					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATCCAGGTTTCTTGGCTAGCA	0.343																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													96.0	94.0	95.0					11																	46810261		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1938G>C	11.37:g.46810261C>G	ENSP00000432768:p.Lys646Asn		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K646N	ENST00000529230.1	37	c.1938	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830247	0.71258	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.41	2.85	0.33270	Armadillo-like helical (1);Armadillo-type fold (1);	0.092112	0.85682	D	0.000000	T	0.73961	0.3654	M	0.78049	2.395	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.971;0.994;0.987	T	0.69339	-0.5171	10	0.22706	T	0.39	-6.2906	8.8453	0.35166	0.0:0.7074:0.0:0.2926	.	646;646;646	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	646	ENSP00000432768:K646N;ENSP00000395302:K646N;ENSP00000310227:K646N;ENSP00000346566:K646N	ENSP00000310227:K646N	K	-	3	2	CKAP5	46766837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.723000	0.38053	0.332000	0.23536	0.655000	0.94253	AAG	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.343	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	119	0.00	0	C	NM_014756		46810261	46810261	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	missense	102	27.14	38	SNP	1.000	G
CLCN4	1183	genome.wustl.edu	37	X	10174758	10174758	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:10174758C>G	ENST00000380833.4	+	8	1176	c.785C>G	c.(784-786)gCt>gGt	p.A262G	CLCN4_ENST00000421085.2_Missense_Mutation_p.A168G|CLCN4_ENST00000380829.1_Missense_Mutation_p.A262G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	262					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAGCGGCTGCTGGAGTCTCT	0.483																																					Melanoma(74;1050 1296 1576 30544 38374)	dbGAP											0													119.0	123.0	122.0					X																	10174758		2203	4300	6503	-	-	-	SO:0001583	missense	0			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.785C>G	X.37:g.10174758C>G	ENSP00000370213:p.Ala262Gly		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.A262G	ENST00000380833.4	37	c.785	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692870	0.88735	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085;ENST00000454850	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-2.88	4.9	4.9	0.64082	Chloride channel, core (2);	0.049398	0.85682	D	0.000000	D	0.97334	0.9128	M	0.84948	2.725	0.80722	D	1	B	0.25772	0.134	B	0.40038	0.317	D	0.97152	0.9832	10	0.87932	D	0	-17.2608	11.158	0.48499	0.0:0.9126:0.0:0.0874	.	262	P51793	CLCN4_HUMAN	G	262;262;168;152	ENSP00000370213:A262G;ENSP00000370209:A262G;ENSP00000405754:A168G;ENSP00000403064:A152G	ENSP00000370209:A262G	A	+	2	0	CLCN4	10134758	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	5.723000	0.68492	2.156000	0.67533	0.600000	0.82982	GCT	CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000073464		0.483	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	156	0.00	0	C			10174758	10174758	+1	no_errors	ENST00000380833	ensembl	human	known	69_37n	missense	72	16.09	14	SNP	0.999	G
CLCN6	1185	genome.wustl.edu	37	1	11898657	11898657	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:11898657C>G	ENST00000346436.6	+	22	2521	c.2469C>G	c.(2467-2469)gtC>gtG	p.V823V	CLCN6_ENST00000376487.3_Silent_p.V801V|CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|CLCN6_ENST00000376496.3_Silent_p.V823V	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	823	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCCAAGTCTTCAACCTGT	0.612											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													147.0	119.0	128.0					1																	11898657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2469C>G	1.37:g.11898657C>G		675	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.V823	ENST00000346436.6	37	c.2469	CCDS138.1	1																																																																																			CLCN6	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	ENSG00000011021		0.612	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	50	0.00	0	C	NM_001286		11898657	11898657	+1	no_errors	ENST00000346436	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	0.906	G
CLCNKA	1187	genome.wustl.edu	37	1	16356470	16356470	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:16356470C>T	ENST00000331433.4	+	14	1327	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.I436I|CLCNKA_ENST00000375692.1_Silent_p.I436I|CLCNKA_ENST00000439316.2_Silent_p.I393I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	436					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GAGCTGCCATCGGGCGCCTCT	0.652																																						dbGAP											0													52.0	51.0	51.0					1																	16356470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1308C>T	1.37:g.16356470C>T			B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.I436	ENST00000331433.4	37	c.1308	CCDS167.1	1																																																																																			CLCNKA	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000186510		0.652	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	51	0.00	0	C			16356470	16356470	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	silent	38	26.92	14	SNP	0.909	T
CLDN8	9073	genome.wustl.edu	37	21	31587860	31587860	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:31587860G>A	ENST00000399899.1	-	1	531	c.384C>T	c.(382-384)atC>atT	p.I128I	CLDN8_ENST00000286809.1_Silent_p.I128I	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	128					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CCATGCCCGTGATGATGAAGA	0.498																																						dbGAP											0													97.0	87.0	90.0					21																	31587860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.384C>T	21.37:g.31587860G>A			D3DSE3|Q53EX7	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.I128	ENST00000399899.1	37	c.384	CCDS13587.1	21																																																																																			CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000156284		0.498	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	56	0.00	0	G	NM_199328		31587860	31587860	-1	no_errors	ENST00000286809	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.093	A
CLEC4D	338339	genome.wustl.edu	37	12	8670867	8670867	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:8670867G>A	ENST00000299665.2	+	3	422	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	77					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAAAAGTGCTGAAGGTACAGA	0.373																																						dbGAP											0													60.0	53.0	56.0					12																	8670867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.229G>A	12.37:g.8670867G>A	ENSP00000299665:p.Glu77Lys		Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E77K	ENST00000299665.2	37	c.229	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	G	2.244	-0.373150	0.05034	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.16597	2.33;2.33	3.63	1.8	0.24995	C-type lectin-like (1);	.	.	.	.	T	0.10121	0.0248	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41680	-0.9495	9	0.06099	T	0.92	.	5.6071	0.17385	0.249:0.0:0.751:0.0	.	77	Q8WXI8	CLC4D_HUMAN	K	77	ENSP00000371496:E77K;ENSP00000299665:E77K	ENSP00000299665:E77K	E	+	1	0	CLEC4D	8562134	0.026000	0.19158	0.054000	0.19295	0.020000	0.10135	0.980000	0.29513	0.519000	0.28406	0.542000	0.68232	GAA	CLEC4D	-	NULL	ENSG00000166527		0.373	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1	35	0.00	0	G	NM_080387		8670867	8670867	+1	no_errors	ENST00000299665	ensembl	human	known	69_37n	missense	32	31.91	15	SNP	0.088	A
CLIC6	54102	genome.wustl.edu	37	21	36088711	36088711	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:36088711C>A	ENST00000360731.3	+	7	2046	c.2046C>A	c.(2044-2046)ttC>ttA	p.F682L	CLIC6_ENST00000349499.2_Missense_Mutation_p.F664L			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	682	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GAGATGAGTTCACAAATACGT	0.373																																						dbGAP											0													141.0	133.0	136.0					21																	36088711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2046C>A	21.37:g.36088711C>A	ENSP00000353959:p.Phe682Leu		A8K0U8|Q8IX31	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.F682L	ENST00000360731.3	37	c.2046		21	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940518	0.92526	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.95137	-3.62;-3.62	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	H	0.95574	3.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.971;0.987	D	0.98602	1.0659	10	0.87932	D	0	-11.2023	13.7843	0.63099	0.0:0.9213:0.0:0.0787	.	682;664	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	L	682;664	ENSP00000353959:F682L;ENSP00000290332:F664L	ENSP00000290332:F664L	F	+	3	2	CLIC6	35010581	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.031000	0.57267	2.767000	0.95098	0.563000	0.77884	TTC	CLIC6	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel	ENSG00000159212		0.373	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLIC6	HGNC	protein_coding	OTTHUMT00000194156.1	106	0.00	0	C			36088711	36088711	+1	no_errors	ENST00000360731	ensembl	human	known	69_37n	missense	84	26.96	31	SNP	1.000	A
CLPSL2	389383	genome.wustl.edu	37	6	35745264	35745264	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:35745264C>G	ENST00000403376.3	+	2	113	c.113C>G	c.(112-114)tCt>tGt	p.S38C	CLPSL2_ENST00000481904.1_3'UTR|CLPSL2_ENST00000360454.2_Missense_Mutation_p.S38C	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	38					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										TTCCACCACTCTGAGTGCTAC	0.597																																						dbGAP											0													84.0	77.0	79.0					6																	35745264		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 126"""	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.113C>G	6.37:g.35745264C>G	ENSP00000385898:p.Ser38Cys		B0QZ45|Q5T9G3	Missense_Mutation	SNP	NULL	p.S38C	ENST00000403376.3	37	c.113	CCDS4810.2	6	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862795	0.32884	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	-2.12	0.07165	.	2.211840	0.02287	N	0.069951	T	0.34106	0.0886	L	0.60455	1.87	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.61940	0.823;0.896	T	0.13926	-1.0491	9	0.87932	D	0	-0.0337	1.1699	0.01823	0.165:0.2998:0.3239:0.2113	.	38;38	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	C	38	.	ENSP00000353639:S38C	S	+	2	0	C6orf126	35853242	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.823000	0.04443	-0.510000	0.06523	-0.258000	0.10820	TCT	CLPSL2	-	NULL	ENSG00000196748		0.597	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPSL2	HGNC	protein_coding	OTTHUMT00000280618.2	43	0.00	0	C	NM_207409		35745264	35745264	+1	no_errors	ENST00000360454	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.000	G
CLSTN2	64084	genome.wustl.edu	37	3	140185532	140185532	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:140185532G>A	ENST00000458420.3	+	8	1493	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	435					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGACCAGGCTGACACCTTTCG	0.562										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	dbGAP											0													71.0	64.0	66.0					3																	140185532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1303G>A	3.37:g.140185532G>A	ENSP00000402460:p.Asp435Asn		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D435N	ENST00000458420.3	37	c.1303	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.155262	0.94686	.	.	ENSG00000158258	ENST00000458420	T	0.02236	4.38	4.98	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.103650	0.64402	D	0.000005	T	0.07683	0.0193	L	0.60845	1.875	0.80722	D	1	D	0.58268	0.982	P	0.55055	0.767	T	0.03008	-1.1083	10	0.62326	D	0.03	-10.21	15.8005	0.78450	0.0:0.0:1.0:0.0	.	435	Q9H4D0	CSTN2_HUMAN	N	435	ENSP00000402460:D435N	ENSP00000402460:D435N	D	+	1	0	CLSTN2	141668222	1.000000	0.71417	0.967000	0.41034	0.935000	0.57460	7.827000	0.86722	2.589000	0.87451	0.655000	0.94253	GAC	CLSTN2	-	superfamily_ConA-like_lec_gl	ENSG00000158258		0.562	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	43	0.00	0	G	NM_022131		140185532	140185532	+1	no_errors	ENST00000458420	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79025052	79025052	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:79025052C>G	ENST00000446378.2	+	2	495	c.464C>G	c.(463-465)tCt>tGt	p.S155C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	155					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGAAATTCTTTTGAATCC	0.398																																						dbGAP											0													65.0	62.0	63.0					5																	79025052		1853	4101	5954	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.464C>G	5.37:g.79025052C>G	ENSP00000394770:p.Ser155Cys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S155C	ENST00000446378.2	37	c.464	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950960	0.53186	.	.	ENSG00000164309	ENST00000446378	T	0.60672	0.17	5.4	5.4	0.78164	.	0.621077	0.14556	N	0.312398	T	0.66127	0.2758	L	0.32530	0.975	0.22253	N	0.999257	D	0.89917	1.0	D	0.78314	0.991	T	0.58691	-0.7592	10	0.87932	D	0	.	12.1421	0.54005	0.0:0.8761:0.0:0.1239	.	155	Q8N3K9	CMYA5_HUMAN	C	155	ENSP00000394770:S155C	ENSP00000394770:S155C	S	+	2	0	CMYA5	79060808	0.544000	0.26441	0.924000	0.36721	0.794000	0.44872	0.958000	0.29227	2.517000	0.84864	0.655000	0.94253	TCT	CMYA5	-	NULL	ENSG00000164309		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	44	0.00	0	C	NM_153610		79025052	79025052	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	0.733	G
CMYA5	202333	genome.wustl.edu	37	5	79030755	79030755	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:79030755C>T	ENST00000446378.2	+	2	6198	c.6167C>T	c.(6166-6168)tCa>tTa	p.S2056L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2056					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGGCCTATCAGTGGAACAG	0.448																																						dbGAP											0													79.0	77.0	78.0					5																	79030755		1843	4095	5938	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6167C>T	5.37:g.79030755C>T	ENSP00000394770:p.Ser2056Leu		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S2056L	ENST00000446378.2	37	c.6167	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696030	0.48202	.	.	ENSG00000164309	ENST00000446378	T	0.54866	0.55	5.08	0.991	0.19813	.	0.570635	0.13349	N	0.394569	T	0.34832	0.0911	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.26849	-1.0091	10	0.59425	D	0.04	.	3.7049	0.08397	0.0:0.4866:0.186:0.3274	.	2056	Q8N3K9	CMYA5_HUMAN	L	2056	ENSP00000394770:S2056L	ENSP00000394770:S2056L	S	+	2	0	CMYA5	79066511	0.000000	0.05858	0.023000	0.16930	0.621000	0.37620	0.153000	0.16323	0.671000	0.31185	0.555000	0.69702	TCA	CMYA5	-	NULL	ENSG00000164309		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	16	0.00	0	C	NM_153610		79030755	79030755	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	0.000	T
CMYA5	202333	genome.wustl.edu	37	5	79031127	79031127	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:79031127C>T	ENST00000446378.2	+	2	6570	c.6539C>T	c.(6538-6540)tCg>tTg	p.S2180L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2180					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTTTCAAATCGTGGATGTCC	0.443																																						dbGAP											0													67.0	66.0	66.0					5																	79031127		1876	4120	5996	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6539C>T	5.37:g.79031127C>T	ENSP00000394770:p.Ser2180Leu		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S2180L	ENST00000446378.2	37	c.6539	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442577	0.83993	.	.	ENSG00000164309	ENST00000446378	T	0.21734	1.99	6.16	6.16	0.99307	.	0.000000	0.45361	D	0.000371	T	0.42585	0.1209	L	0.49126	1.545	0.32168	N	0.582021	D	0.89917	1.0	D	0.87578	0.998	T	0.44726	-0.9309	10	0.72032	D	0.01	.	16.3599	0.83257	0.0:1.0:0.0:0.0	.	2180	Q8N3K9	CMYA5_HUMAN	L	2180	ENSP00000394770:S2180L	ENSP00000394770:S2180L	S	+	2	0	CMYA5	79066883	0.719000	0.27986	0.972000	0.41901	0.980000	0.70556	2.438000	0.44837	2.937000	0.99478	0.650000	0.86243	TCG	CMYA5	-	NULL	ENSG00000164309		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	13	0.00	0	C	NM_153610		79031127	79031127	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.983	T
CNIH4	29097	genome.wustl.edu	37	1	224548252	224548252	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:224548252C>T	ENST00000465271.1	+	2	200	c.125C>T	c.(124-126)tCa>tTa	p.S42L	CNIH4_ENST00000366856.3_Missense_Mutation_p.S42L|CNIH4_ENST00000366858.3_Missense_Mutation_p.S42L|CNIH4_ENST00000366857.5_Missense_Mutation_p.S42L|CNIH4_ENST00000468318.1_Intron	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	42					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		TCATGTTGCTCAAAATTAAAC	0.274																																						dbGAP											0													61.0	62.0	62.0					1																	224548252		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.125C>T	1.37:g.224548252C>T	ENSP00000420443:p.Ser42Leu		A8K1Q8|B2R553|Q9H0X8	Missense_Mutation	SNP	pfam_Cornichon	p.S42L	ENST00000465271.1	37	c.125	CCDS1543.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049958	0.75846	.	.	ENSG00000143771	ENST00000465271;ENST00000366858;ENST00000366857;ENST00000366856	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.86268	2.805	0.80722	D	1	P	0.39862	0.692	B	0.39465	0.3	T	0.68146	-0.5486	10	0.72032	D	0.01	-0.2012	18.1521	0.89677	0.0:1.0:0.0:0.0	.	42	Q9P003	CNIH4_HUMAN	L	42	ENSP00000420443:S42L;ENSP00000355823:S42L;ENSP00000355822:S42L;ENSP00000355821:S42L	ENSP00000355821:S42L	S	+	2	0	CNIH4	222614875	1.000000	0.71417	0.957000	0.39632	0.888000	0.51559	6.812000	0.75226	2.476000	0.83614	0.484000	0.47621	TCA	CNIH4	-	pfam_Cornichon	ENSG00000143771		0.274	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH4	HGNC	protein_coding	OTTHUMT00000091754.1	56	0.00	0	C	NM_014184		224548252	224548252	+1	no_errors	ENST00000465271	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	1.000	T
CNTNAP2	26047	genome.wustl.edu	37	7	147259301	147259301	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:147259301G>A	ENST00000361727.3	+	12	2365	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	617	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATAGATCCTGATGGCAGCGG	0.403										HNSCC(39;0.1)																												dbGAP											0													111.0	108.0	109.0					7																	147259301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1849G>A	7.37:g.147259301G>A	ENSP00000354778:p.Asp617Asn		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D617N	ENST00000361727.3	37	c.1849	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.665922	0.96745	.	.	ENSG00000174469	ENST00000361727	T	0.19394	2.15	5.93	5.93	0.95920	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.64402	D	0.000002	T	0.52008	0.1708	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53151	-0.8479	10	0.87932	D	0	.	18.9092	0.92475	0.0:0.0:1.0:0.0	.	617	Q9UHC6	CNTP2_HUMAN	N	617	ENSP00000354778:D617N	ENSP00000354778:D617N	D	+	1	0	CNTNAP2	146890234	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.662000	0.98603	2.797000	0.96272	0.655000	0.94253	GAT	CNTNAP2	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000174469		0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	80	0.00	0	G			147259301	147259301	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	missense	77	21.21	21	SNP	1.000	A
CNTNAP3	79937	genome.wustl.edu	37	9	39100067	39100067	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:39100067C>T	ENST00000297668.6	-	18	2909	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.E858K	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	946	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGGCTCTTTCTTCCAGATCC	0.562																																						dbGAP											0													3.0	3.0	3.0					9																	39100067		1839	3713	5552	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2836G>A	9.37:g.39100067C>T	ENSP00000297668:p.Glu946Lys		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E946K	ENST00000297668.6	37	c.2836	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	c	21.0	4.078093	0.76528	.	.	ENSG00000106714	ENST00000297668;ENST00000358144	T;T	0.46819	0.86;0.86	3.68	3.68	0.42216	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.52451	0.1735	M	0.80847	2.515	0.80722	D	1	P;B	0.35600	0.511;0.371	B;B	0.37888	0.26;0.206	T	0.58685	-0.7593	9	0.37606	T	0.19	.	14.5437	0.68013	0.0:1.0:0.0:0.0	.	946;946	Q9BZ76-2;Q9BZ76	.;CNTP3_HUMAN	K	946;858	ENSP00000297668:E946K;ENSP00000350863:E858K	ENSP00000297668:E946K	E	-	1	0	CNTNAP3	39090067	1.000000	0.71417	0.968000	0.41197	0.968000	0.65278	5.083000	0.64456	2.035000	0.60131	0.485000	0.47835	GAA	CNTNAP3	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000106714		0.562	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	18	0.00	0	C	NM_033655		39100067	39100067	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125192094	125192094	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:125192094C>T	ENST00000431078.1	+	5	927	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	188	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCCGAAGCTCACTTCTGTAC	0.443																																						dbGAP											0													130.0	121.0	124.0					2																	125192094		1953	4144	6097	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.563C>T	2.37:g.125192094C>T	ENSP00000399013:p.Ser188Leu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S188L	ENST00000431078.1	37	c.563	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868143	0.51588	.	.	ENSG00000155052	ENST00000431078	T	0.80214	-1.35	5.48	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.157138	0.29444	N	0.012129	T	0.72293	0.3442	L	0.49778	1.585	0.53005	D	0.999968	P	0.35745	0.518	B	0.32149	0.141	T	0.67868	-0.5559	10	0.14252	T	0.57	.	13.2759	0.60188	0.0:0.9242:0.0:0.0758	.	188	Q8WYK1	CNTP5_HUMAN	L	188	ENSP00000399013:S188L	ENSP00000399013:S188L	S	+	2	0	CNTNAP5	124908564	1.000000	0.71417	0.960000	0.40013	0.900000	0.52787	4.848000	0.62874	1.311000	0.45024	0.655000	0.94253	TCA	CNTNAP5	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000155052		0.443	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	81	0.00	0	C			125192094	125192094	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	53	35.37	29	SNP	1.000	T
COL11A1	1301	genome.wustl.edu	37	1	103491465	103491465	+	Intron	SNP	G	G	T	rs200483544		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:103491465G>T	ENST00000370096.3	-	7	1210				COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.T275N|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTGATTTAGTAGCCACTGT	0.328																																						dbGAP											0													118.0	124.0	122.0					1																	103491465		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-296C>A	1.37:g.103491465G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.T275N	ENST00000370096.3	37	c.824	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	6.787	0.514270	0.12944	.	.	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.72725	-0.56;-0.68	5.44	0.93	0.19454	.	1.886510	0.02296	N	0.070771	T	0.42787	0.1218	L	0.40543	1.245	0.80722	D	1	B	0.22414	0.069	B	0.21360	0.034	T	0.27400	-1.0075	10	0.16896	T	0.51	.	9.8283	0.40925	0.1342:0.2309:0.6349:0.0	.	275	P12107-2	.	N	275	ENSP00000351163:T275N;ENSP00000408640:T275N	ENSP00000351163:T275N	T	-	2	0	COL11A1	103264053	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	1.917000	0.39996	0.258000	0.21686	0.591000	0.81541	ACT	COL11A1	-	NULL	ENSG00000060718		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	193	0.00	0	G	NM_080630		103491465	103491465	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	missense	136	16.05	26	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111125395	111125395	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:111125395G>A	ENST00000360467.5	+	29	2629	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	775	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTCCCTGGAGAAGTCCTGGG	0.677																																						dbGAP											0													9.0	11.0	11.0					13																	111125395		1858	4038	5896	-	-	-	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2323G>A	13.37:g.111125395G>A	ENSP00000353654:p.Glu775Lys		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.E775K	ENST00000360467.5	37	c.2323	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249837	0.59212	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93019	-3.15	5.06	4.21	0.49690	.	0.116931	0.37906	N	0.001886	D	0.91925	0.7443	L	0.34521	1.04	0.45806	D	0.998685	D	0.63880	0.993	P	0.57620	0.824	D	0.88628	0.3167	10	0.11182	T	0.66	.	13.4074	0.60922	0.0775:0.0:0.9225:0.0	.	775	P08572	CO4A2_HUMAN	K	775	ENSP00000353654:E775K	ENSP00000257309:E775K	E	+	1	0	COL4A2	109923396	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	6.102000	0.71486	1.269000	0.44280	-0.259000	0.10710	GAA	COL4A2	-	pfam_Collagen	ENSG00000134871		0.677	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	12	0.00	0	G	NM_001846		111125395	111125395	+1	no_errors	ENST00000360467	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	A
COL6A1	1291	genome.wustl.edu	37	21	47407424	47407424	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:47407424C>T	ENST00000361866.3	+	7	864	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	250	N-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCTGCTCCTTCGAATGCCAGG	0.657																																						dbGAP											0													194.0	168.0	177.0					21																	47407424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.750C>T	21.37:g.47407424C>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.F250	ENST00000361866.3	37	c.750	CCDS13727.1	21																																																																																			COL6A1	-	NULL	ENSG00000142156		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	56	0.00	0	C	NM_001848		47407424	47407424	+1	no_errors	ENST00000361866	ensembl	human	known	69_37n	silent	26	30.77	12	SNP	1.000	T
COLQ	8292	genome.wustl.edu	37	3	15518644	15518644	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:15518644C>T	ENST00000383788.5	-	6	579	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	COLQ_ENST00000435459.2_Missense_Mutation_p.E142K|COLQ_ENST00000603808.1_Missense_Mutation_p.E152K|COLQ_ENST00000383786.5_Missense_Mutation_p.E118K|COLQ_ENST00000383781.4_Missense_Mutation_p.E142K|COLQ_ENST00000383785.2_Missense_Mutation_p.E152K|COLQ_ENST00000383787.2_Missense_Mutation_p.E143K	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	152	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CTGGGTCCTTCAGGGCCTGGC	0.587																																						dbGAP											0													32.0	29.0	30.0					3																	15518644		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.454G>A	3.37:g.15518644C>T	ENSP00000373298:p.Glu152Lys		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.E152K	ENST00000383788.5	37	c.454	CCDS33709.1	3	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564278	0.45694	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.94376	-2.33;-3.12;-3.41;-3.12;-3.12;-2.33	5.78	2.93	0.34026	.	0.469386	0.26765	N	0.022612	T	0.79082	0.4386	N	0.02802	-0.49	0.26262	N	0.978565	B;P;B;B	0.41131	0.152;0.739;0.156;0.372	B;B;B;B	0.39119	0.053;0.291;0.054;0.116	T	0.73883	-0.3842	10	0.10111	T	0.7	-9.9184	7.437	0.27160	0.0:0.7161:0.1496:0.1343	.	118;143;152;142	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	K	143;142;142;152;152;142;152;118;95	ENSP00000373297:E143K;ENSP00000373291:E142K;ENSP00000402511:E142K;ENSP00000373295:E152K;ENSP00000373298:E152K;ENSP00000373296:E118K	ENSP00000373291:E142K	E	-	1	0	COLQ	15493648	0.991000	0.36638	0.998000	0.56505	0.984000	0.73092	0.763000	0.26517	1.394000	0.46624	0.561000	0.74099	GAA	COLQ	-	pfam_Collagen	ENSG00000206561		0.587	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	50	0.00	0	C	NM_005677		15518644	15518644	-1	no_errors	ENST00000383788	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.966	T
COL8A1	1295	genome.wustl.edu	37	3	99513932	99513932	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:99513932G>T	ENST00000261037.3	+	5	1567	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	COL8A1_ENST00000273342.4_Missense_Mutation_p.G396V	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	396	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCTGCCTGGAATCCCAGGT	0.612																																						dbGAP											0													27.0	30.0	29.0					3																	99513932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1187G>T	3.37:g.99513932G>T	ENSP00000261037:p.Gly396Val		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G396V	ENST00000261037.3	37	c.1187	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982403	0.53827	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.98807	-5.15;-5.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98010	1.0365	10	0.87932	D	0	.	17.8375	0.88704	0.0:0.0:1.0:0.0	.	397;396	E7EPK9;P27658	.;CO8A1_HUMAN	V	396	ENSP00000261037:G396V;ENSP00000273342:G396V	ENSP00000261037:G396V	G	+	2	0	COL8A1	100996622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	GGA	COL8A1	-	NULL	ENSG00000144810		0.612	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	25	0.00	0	G	NM_001850		99513932	99513932	+1	no_errors	ENST00000261037	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	T
COPS6	10980	genome.wustl.edu	37	7	99689093	99689093	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:99689093C>T	ENST00000303904.3	+	9	830	c.793C>T	c.(793-795)Cac>Tac	p.H265Y	COPS6_ENST00000418625.1_Missense_Mutation_p.H264Y|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	265	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGCTCTGTGTCACTGTCTCCC	0.493																																						dbGAP											0													119.0	122.0	121.0					7																	99689093		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.793C>T	7.37:g.99689093C>T	ENSP00000304102:p.His265Tyr		A4D2A3|O15387	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.H265Y	ENST00000303904.3	37	c.793	CCDS5682.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048279	0.75846	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.44881	0.91;0.91	5.44	4.53	0.55603	.	0.168688	0.52532	D	0.000073	T	0.60907	0.2305	M	0.80028	2.48	0.58432	D	0.999996	D	0.64830	0.994	P	0.58266	0.836	T	0.67440	-0.5670	10	0.72032	D	0.01	-21.2881	13.1115	0.59277	0.1611:0.8389:0.0:0.0	.	265	Q7L5N1	CSN6_HUMAN	Y	265;264	ENSP00000304102:H265Y;ENSP00000400617:H264Y	ENSP00000304102:H265Y	H	+	1	0	COPS6	99527029	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	6.680000	0.74518	1.468000	0.48064	0.655000	0.94253	CAC	COPS6	-	NULL	ENSG00000168090		0.493	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3	85	0.00	0	C	NM_006833		99689093	99689093	+1	no_errors	ENST00000303904	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	1.000	T
CP	1356	genome.wustl.edu	37	3	148903057	148903057	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:148903057C>T	ENST00000264613.6	-	12	2516	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	752	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGCTCCTTTTCCCACTCCCTT	0.453																																						dbGAP											0													191.0	193.0	192.0					3																	148903057		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2254G>A	3.37:g.148903057C>T	ENSP00000264613:p.Glu752Lys		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.E752K	ENST00000264613.6	37	c.2254	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190982	0.78789	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98684	-5.07;-5.07	5.55	5.55	0.83447	Cupredoxin (2);	0.116331	0.64402	D	0.000005	D	0.98738	0.9576	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99239	1.0884	10	0.35671	T	0.21	-37.5374	19.5213	0.95185	0.0:1.0:0.0:0.0	.	752;752;752	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	K	752;535	ENSP00000264613:E752K;ENSP00000420545:E535K	ENSP00000264613:E752K	E	-	1	0	CP	150385747	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	6.989000	0.76219	2.610000	0.88304	0.555000	0.69702	GAA	CP	-	superfamily_Cupredoxin	ENSG00000047457		0.453	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	84	0.00	0	C	NM_000096		148903057	148903057	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	missense	61	13.89	10	SNP	1.000	T
CPB2	1361	genome.wustl.edu	37	13	46658437	46658437	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:46658437C>G	ENST00000181383.4	-	3	208	c.192G>C	c.(190-192)aaG>aaC	p.K64N	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.K64N|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	64					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTGTTTTTTCTTCACAATAA	0.373																																						dbGAP											0													132.0	121.0	125.0					13																	46658437		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.192G>C	13.37:g.46658437C>G	ENSP00000181383:p.Lys64Asn		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.K64N	ENST00000181383.4	37	c.192	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628040	0.28978	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.15256	2.44;2.44	5.41	3.66	0.41972	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.143817	0.64402	D	0.000008	T	0.27832	0.0685	L	0.50333	1.59	0.09310	N	1	D;D	0.89917	0.997;1.0	P;D	0.69824	0.9;0.966	T	0.07139	-1.0788	10	0.19147	T	0.46	.	7.6616	0.28407	0.0:0.8126:0.0:0.1874	.	64;64	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	N	64	ENSP00000181383:K64N;ENSP00000400714:K64N	ENSP00000181383:K64N	K	-	3	2	CPB2	45556438	0.834000	0.29399	0.033000	0.17914	0.306000	0.27790	1.315000	0.33608	1.410000	0.46936	0.650000	0.86243	AAG	CPB2	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000080618		0.373	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	78	0.00	0	C	NM_001872		46658437	46658437	-1	no_errors	ENST00000181383	ensembl	human	known	69_37n	missense	65	27.78	25	SNP	0.031	G
CPED1	79974	genome.wustl.edu	37	7	120768504	120768504	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:120768504C>T	ENST00000310396.5	+	11	1838	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	457						endoplasmic reticulum (GO:0005783)											TTATGACTTTCATAAAGGAAC	0.368																																						dbGAP											0													80.0	84.0	83.0					7																	120768504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1371C>T	7.37:g.120768504C>T			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.F457	ENST00000310396.5	37	c.1371	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.368	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	23	0.00	0	C	NM_024913		120768504	120768504	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	silent	31	31.91	15	SNP	0.998	T
CPSF7	79869	genome.wustl.edu	37	11	61183744	61183744	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:61183744G>C	ENST00000394888.4	-	6	970	c.798C>G	c.(796-798)ctC>ctG	p.L266L	CPSF7_ENST00000340437.4_Silent_p.L309L|CPSF7_ENST00000448745.1_Silent_p.L257L|CPSF7_ENST00000439958.3_Silent_p.L257L	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	266	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GTGGGGGCATGAGATGCTGGT	0.612																																						dbGAP											0													51.0	55.0	54.0					11																	61183744		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.798C>G	11.37:g.61183744G>C			B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L309	ENST00000394888.4	37	c.927	CCDS44619.1	11																																																																																			CPSF7	-	NULL	ENSG00000149532		0.612	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	44	0.00	0	G	NM_024811		61183744	61183744	-1	no_errors	ENST00000340437	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	1.000	C
CPVL	54504	genome.wustl.edu	37	7	29152329	29152329	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:29152329G>T	ENST00000409850.1	-	7	925	c.279C>A	c.(277-279)ttC>ttA	p.F93L	CPVL_ENST00000396276.3_Missense_Mutation_p.F93L|CPVL_ENST00000265394.5_Missense_Mutation_p.F93L|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	93						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCTGAGCTGGGAAGAACCAGA	0.493																																						dbGAP											0													103.0	92.0	96.0					7																	29152329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.279C>A	7.37:g.29152329G>T	ENSP00000387164:p.Phe93Leu		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.F93L	ENST00000409850.1	37	c.279	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818071	0.71028	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000448959;ENST00000447426	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.83	-0.373	0.12516	.	0.045414	0.85682	D	0.000000	T	0.60919	0.2306	M	0.93720	3.45	0.80722	D	1	P	0.52692	0.955	P	0.58577	0.841	T	0.69749	-0.5061	10	0.66056	D	0.02	-6.5373	11.9681	0.53047	0.3128:0.0:0.6872:0.0	.	93	Q9H3G5	CPVL_HUMAN	L	93;93;93;23;23	ENSP00000265394:F93L;ENSP00000379572:F93L;ENSP00000387164:F93L;ENSP00000409036:F23L;ENSP00000395690:F23L	ENSP00000265394:F93L	F	-	3	2	CPVL	29118854	1.000000	0.71417	0.992000	0.48379	0.677000	0.39632	0.606000	0.24194	-0.044000	0.13491	0.561000	0.74099	TTC	CPVL	-	pfam_Peptidase_S10	ENSG00000106066		0.493	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	62	0.00	0	G	NM_019029		29152329	29152329	-1	no_errors	ENST00000265394	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	T
CRAMP1L	57585	genome.wustl.edu	37	16	1712533	1712533	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:1712533C>G	ENST00000397412.3	+	12	2555	c.2456C>G	c.(2455-2457)tCc>tGc	p.S819C	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S816C|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S819C|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S197C|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	819						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCTGGTCCCTCCAGCACAGGA	0.552																																						dbGAP											0													108.0	113.0	111.0					16																	1712533		1934	4133	6067	-	-	-	SO:0001583	missense	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2456C>G	16.37:g.1712533C>G	ENSP00000380559:p.Ser819Cys		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S819C	ENST00000397412.3	37	c.2456	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499454	0.44455	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.5	5.5	0.81552	.	0.406635	0.28388	N	0.015529	T	0.50854	0.1640	L	0.27053	0.805	0.36210	D	0.8513	D	0.61697	0.99	P	0.52856	0.711	T	0.60125	-0.7324	9	0.54805	T	0.06	-26.6351	13.0344	0.58862	0.0:0.9263:0.0:0.0737	.	819	Q96RY5	CRML_HUMAN	C	819;819;816;197	.	ENSP00000262317:S197C	S	+	2	0	CRAMP1L	1652534	0.464000	0.25807	0.946000	0.38457	0.347000	0.29111	3.951000	0.56684	2.735000	0.93741	0.655000	0.94253	TCC	CRAMP1L	-	NULL	ENSG00000007545		0.552	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	37	0.00	0	C			1712533	1712533	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.961	G
CREBBP	1387	genome.wustl.edu	37	16	3900518	3900518	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:3900518G>C	ENST00000262367.5	-	2	1387	c.578C>G	c.(577-579)tCt>tGt	p.S193C	CREBBP_ENST00000382070.3_Missense_Mutation_p.S193C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	193					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTATGGCCAGAGTTACTATT	0.547			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													104.0	98.0	100.0					16																	3900518		2197	4300	6497	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.578C>G	16.37:g.3900518G>C	ENSP00000262367:p.Ser193Cys		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S193C	ENST00000262367.5	37	c.578	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487447	0.44249	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84298	-1.83;-1.74	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	L	0.44542	1.39	0.43673	D	0.996104	D;D	0.69078	0.981;0.997	D;D	0.65987	0.94;0.922	D	0.89850	0.4009	10	0.72032	D	0.01	-22.5008	20.5211	0.99222	0.0:0.0:1.0:0.0	.	261;193	Q4LE28;Q92793	.;CBP_HUMAN	C	193;261;193	ENSP00000262367:S193C;ENSP00000371502:S193C	ENSP00000262367:S193C	S	-	2	0	CREBBP	3840519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.367000	0.66127	2.861000	0.98227	0.650000	0.86243	TCT	CREBBP	-	NULL	ENSG00000005339		0.547	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	70	0.00	0	G	NM_004380		3900518	3900518	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	62	11.27	8	SNP	1.000	C
CRNKL1	51340	genome.wustl.edu	37	20	20031155	20031155	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:20031155C>T	ENST00000377340.2	-	3	677	c.646G>A	c.(646-648)Gat>Aat	p.D216N	CRNKL1_ENST00000377327.4_Missense_Mutation_p.D204N|C20orf26_ENST00000377306.1_5'Flank|CRNKL1_ENST00000536226.1_Missense_Mutation_p.D55N|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000389656.3_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	216					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D216Y(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCTTCTTCATCTGTGATCTTC	0.408																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											149.0	140.0	143.0					20																	20031155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.646G>A	20.37:g.20031155C>T	ENSP00000366557:p.Asp216Asn		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.D216N	ENST00000377340.2	37	c.646	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.086786	0.94100	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.28666	1.6;1.6;1.6	5.42	5.42	0.78866	.	0.132625	0.64402	D	0.000002	T	0.57403	0.2051	M	0.90019	3.08	0.80722	D	1	D;P	0.61080	0.989;0.942	P;B	0.53401	0.725;0.411	T	0.66905	-0.5805	10	0.66056	D	0.02	-31.5927	19.4096	0.94665	0.0:1.0:0.0:0.0	.	204;216	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	N	204;216;55	ENSP00000366544:D204N;ENSP00000366557:D216N;ENSP00000440733:D55N	ENSP00000366544:D204N	D	-	1	0	CRNKL1	19979155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.817000	0.96982	0.563000	0.77884	GAT	CRNKL1	-	NULL	ENSG00000101343		0.408	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	147	0.00	0	C			20031155	20031155	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	117	27.33	44	SNP	1.000	T
CRYAB	1410	genome.wustl.edu	37	11	111781132	111781132	+	Silent	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:111781132C>A	ENST00000533475.1	-	3	692	c.243G>T	c.(241-243)gtG>gtT	p.V81V	CRYAB_ENST00000527950.1_Silent_p.V81V|CRYAB_ENST00000531198.1_Silent_p.V81V|CRYAB_ENST00000227251.3_Silent_p.V81V|CRYAB_ENST00000533971.1_Silent_p.V81V|CRYAB_ENST00000526180.1_Silent_p.V81V|HSPB2-C11orf52_ENST00000534100.1_5'Flank|HSPB2_ENST00000304298.3_5'Flank|CRYAB_ENST00000525823.1_Silent_p.V14V|CRYAB_ENST00000533280.1_Silent_p.V14V|HSPB2_ENST00000537382.1_5'Flank	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	81					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGAAGTGCTTCACATCCAGGT	0.453																																						dbGAP											0													148.0	114.0	126.0					11																	111781132		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.243G>T	11.37:g.111781132C>A			B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Silent	SNP	pfam_Alpha-crystallin_N,pfam_Hsp20,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_Hsp20	p.V81	ENST00000533475.1	37	c.243	CCDS8351.1	11																																																																																			CRYAB	-	pfam_Hsp20,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_Hsp20	ENSG00000109846		0.453	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRYAB	HGNC	protein_coding	OTTHUMT00000391658.1	68	0.00	0	C			111781132	111781132	-1	no_errors	ENST00000227251	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	1.000	A
CRYBA4	1413	genome.wustl.edu	37	22	27026323	27026323	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:27026323C>T	ENST00000354760.3	+	6	498	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	155	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.P155S(2)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CTCCCAGTTTCCGGGCTACCG	0.527																																						dbGAP											2	Substitution - Missense(2)	lung(1)|skin(1)											138.0	105.0	116.0					22																	27026323		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.463C>T	22.37:g.27026323C>T	ENSP00000346805:p.Pro155Ser		Q4VB22|Q6ICE4	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.P155S	ENST00000354760.3	37	c.463	CCDS13841.1	22	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265140	0.59431	.	.	ENSG00000196431	ENST00000354760	T	0.79033	-1.23	4.42	4.42	0.53409	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90532	0.4496	10	0.62326	D	0.03	.	14.5738	0.68232	0.0:1.0:0.0:0.0	.	155	P53673	CRBA4_HUMAN	S	155	ENSP00000346805:P155S	ENSP00000346805:P155S	P	+	1	0	CRYBA4	25356323	1.000000	0.71417	0.985000	0.45067	0.186000	0.23388	6.555000	0.73928	2.299000	0.77371	0.555000	0.69702	CCG	CRYBA4	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin	ENSG00000196431		0.527	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	HGNC	protein_coding	OTTHUMT00000320793.1	103	0.00	0	C	NM_001886		27026323	27026323	+1	no_errors	ENST00000354760	ensembl	human	known	69_37n	missense	63	28.41	25	SNP	1.000	T
CRYBG3	131544	genome.wustl.edu	37	3	97596117	97596117	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:97596117C>A	ENST00000182096.4	+	1	299	c.235C>A	c.(235-237)Cat>Aat	p.H79N		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2027							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGTCTTGTTTCATGATACGTC	0.423																																						dbGAP											0													54.0	53.0	53.0					3																	97596117		1919	4138	6057	-	-	-	SO:0001583	missense	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.235C>A	3.37:g.97596117C>A	ENSP00000182096:p.His79Asn		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.H79N	ENST00000182096.4	37	c.235		3	.	.	.	.	.	.	.	.	.	.	C	1.831	-0.469775	0.04445	.	.	ENSG00000080200	ENST00000182096	T	0.72835	-0.69	5.6	2.85	0.33270	.	1.572370	0.03536	N	0.223235	T	0.50154	0.1599	N	0.08118	0	0.28250	N	0.925293	B	0.02656	0.0	B	0.01281	0.0	T	0.39722	-0.9600	10	0.20046	T	0.44	.	5.3364	0.15959	0.1424:0.621:0.0:0.2366	.	79	Q68DQ2	CRBG3_HUMAN	N	79	ENSP00000182096:H79N	ENSP00000182096:H79N	H	+	1	0	CRYBG3	99078807	0.067000	0.21026	0.134000	0.22075	0.023000	0.10783	0.461000	0.21940	0.328000	0.23435	0.650000	0.86243	CAT	CRYBG3	-	NULL	ENSG00000080200		0.423	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	30	0.00	0	C	NM_153605		97596117	97596117	+1	no_errors	ENST00000182096	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.439	A
CSMD2	114784	genome.wustl.edu	37	1	34291356	34291356	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:34291356C>T	ENST00000373381.4	-	7	1229	c.1053G>A	c.(1051-1053)ttG>ttA	p.L351L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	311	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCGAGACTTCAACTCAATTT	0.532																																						dbGAP											0													106.0	81.0	89.0					1																	34291356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1053G>A	1.37:g.34291356C>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L351	ENST00000373381.4	37	c.1053		1																																																																																			CSMD2	-	NULL	ENSG00000121904		0.532	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		58	0.00	0	C	NM_052896		34291356	34291356	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	39	23.53	12	SNP	1.000	T
CSF3R	1441	genome.wustl.edu	37	1	36932074	36932074	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:36932074T>A	ENST00000373106.1	-	17	2942	c.2395A>T	c.(2395-2397)Acc>Tcc	p.T799S	CSF3R_ENST00000440588.2_Missense_Mutation_p.T826S|CSF3R_ENST00000418048.2_Missense_Mutation_p.T799S|CSF3R_ENST00000338937.5_Silent_p.G767G|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000361632.4_Missense_Mutation_p.T799S|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000373103.1_Missense_Mutation_p.T826S|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	799					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTTACCAGGGTCCCCAAGGGG	0.647																																						dbGAP											0													15.0	19.0	18.0					1																	36932074		2203	4299	6502	-	-	-	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2395A>T	1.37:g.36932074T>A	ENSP00000362198:p.Thr799Ser			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T826S	ENST00000373106.1	37	c.2476	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	T	1.147	-0.647712	0.03506	.	.	ENSG00000119535	ENST00000373106;ENST00000373103;ENST00000361632;ENST00000418048;ENST00000440588	T;T;T;T;T	0.47177	1.0;0.85;1.0;1.0;0.85	5.59	-0.597	0.11653	.	0.992711	0.08193	N	0.983442	T	0.33731	0.0873	L	0.46157	1.445	0.09310	N	1	B;B;B	0.20988	0.03;0.05;0.03	B;B;B	0.17722	0.009;0.019;0.009	T	0.25676	-1.0125	10	0.17832	T	0.49	-12.937	3.53	0.07773	0.4315:0.1976:0.0:0.3709	.	799;826;799	Q1ZYL6;Q99062-3;Q99062	.;.;CSF3R_HUMAN	S	799;826;799;799;826	ENSP00000362198:T799S;ENSP00000362195:T826S;ENSP00000355406:T799S;ENSP00000401588:T799S;ENSP00000397568:T826S	ENSP00000355406:T799S	T	-	1	0	CSF3R	36704661	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-1.864000	0.01650	-0.118000	0.11851	-0.438000	0.05819	ACC	CSF3R	-	NULL	ENSG00000119535		0.647	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	31	0.00	0	T	NM_156039		36932074	36932074	-1	no_errors	ENST00000373103	ensembl	human	known	69_37n	missense	12	31.58	6	SNP	0.001	A
CSDE1	7812	genome.wustl.edu	37	1	115282499	115282499	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:115282499G>C	ENST00000358528.4	-	3	439	c.13C>G	c.(13-15)Cca>Gca	p.P5A	CSDE1_ENST00000339438.6_Missense_Mutation_p.P5A|CSDE1_ENST00000261443.5_Missense_Mutation_p.P5A|CSDE1_ENST00000534699.1_Missense_Mutation_p.P5A|CSDE1_ENST00000438362.2_Missense_Mutation_p.P51A|CSDE1_ENST00000369530.1_Missense_Mutation_p.P51A|CSDE1_ENST00000530886.1_Intron	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	5					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAGGTTTGGATCAAAGCTC	0.358																																						dbGAP											0													234.0	241.0	239.0					1																	115282499		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.13C>G	1.37:g.115282499G>C	ENSP00000351329:p.Pro5Ala		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.P51A	ENST00000358528.4	37	c.151	CCDS30812.1	1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265745	0.59540	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.986;0.994	T	0.66212	-0.5980	9	0.66056	D	0.02	-17.6654	15.4009	0.74841	0.0668:0.0:0.9332:0.0	.	51;5;51	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	A	5;51;5;5;51;5;5;5;5	.	ENSP00000261443:P5A	P	-	1	0	CSDE1	115084022	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.529000	0.81952	1.534000	0.49203	0.585000	0.79938	CCA	CSDE1	-	NULL	ENSG00000009307		0.358	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	38	0.00	0	G	NM_007158		115282499	115282499	-1	no_errors	ENST00000369530	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	1.000	C
CSPP1	79848	genome.wustl.edu	37	8	68071328	68071328	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:68071328C>A	ENST00000262210.5	+	19	2510	c.2479C>A	c.(2479-2481)Cag>Aag	p.Q827K	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.Q482K	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	862	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTGCAACTTCAGCACTACTG	0.343																																						dbGAP											0													107.0	105.0	106.0					8																	68071328		1830	4083	5913	-	-	-	SO:0001583	missense	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2479C>A	8.37:g.68071328C>A	ENSP00000262210:p.Gln827Lys		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.Q827K	ENST00000262210.5	37	c.2479	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084834	0.55861	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.74209	-0.82;1.56;1.56	4.65	4.65	0.58169	.	0.287494	0.28908	N	0.013758	T	0.68109	0.2965	N	0.14661	0.345	0.27969	N	0.936465	D;P;B	0.55385	0.971;0.794;0.172	P;B;B	0.56042	0.79;0.31;0.084	T	0.60662	-0.7219	10	0.23302	T	0.38	-10.6208	12.451	0.55677	0.1684:0.8316:0.0:0.0	.	482;827;862	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	K	827;862;482;482	ENSP00000262210:Q827K;ENSP00000415782:Q482K;ENSP00000430092:Q482K	ENSP00000262210:Q827K	Q	+	1	0	CSPP1	68233882	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	0.921000	0.28718	2.302000	0.77476	0.557000	0.71058	CAG	CSPP1	-	NULL	ENSG00000104218		0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	49	0.00	0	C	NM_024790		68071328	68071328	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	46	31.34	21	SNP	1.000	A
CSTF2T	23283	genome.wustl.edu	37	10	53457842	53457842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:53457842G>A	ENST00000331173.4	-	1	1513	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	490	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTGGGTCCCTGAGGAGGGCCA	0.582																																						dbGAP											0													61.0	64.0	63.0					10																	53457842		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1468C>T	10.37:g.53457842G>A	ENSP00000332444:p.Gln490*		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q490*	ENST00000331173.4	37	c.1468	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518801	0.64634	.	.	ENSG00000177613	ENST00000331173	.	.	.	0.158	0.158	0.14942	.	0.124092	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7866	.	.	.	.	.	.	.	X	490	.	ENSP00000332444:Q490X	Q	-	1	0	CSTF2T	53127848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.891000	0.48617	0.202000	0.20498	0.205000	0.17691	CAG	CSTF2T	-	NULL	ENSG00000177613		0.582	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	56	0.00	0	G	NM_015235		53457842	53457842	-1	no_errors	ENST00000331173	ensembl	human	known	69_37n	nonsense	34	20.93	9	SNP	1.000	A
CTAGE5	4253	genome.wustl.edu	37	14	39815162	39815162	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:39815162C>T	ENST00000280083.3	+	21	2200	c.1886C>T	c.(1885-1887)tCt>tTt	p.S629F	CTAGE5_ENST00000556148.1_Missense_Mutation_p.S554F|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S629F|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S600F|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S634F|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S600F|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S1164F|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S617F|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S586F|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S549F|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S600F			O15320	CTGE5_HUMAN	CTAGE family, member 5	629	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGATTTTGTTCTAATTCTGGT	0.328																																						dbGAP											0													75.0	74.0	75.0					14																	39815162		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1886C>T	14.37:g.39815162C>T	ENSP00000280083:p.Ser629Phe		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.S634F	ENST00000280083.3	37	c.1901	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992721	0.74703	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.43688	3.08;2.94;2.94;2.95;3.22;3.23;3.24;2.94;0.94;2.95	4.7	4.7	0.59300	.	0.262306	0.20348	N	0.094119	T	0.62588	0.2440	M	0.72479	2.2	0.25504	N	0.987524	D;P;D;P;D;P	0.67145	0.996;0.947;0.971;0.947;0.971;0.947	D;P;P;P;P;P	0.65684	0.937;0.865;0.865;0.865;0.865;0.865	T	0.56396	-0.7986	9	.	.	.	.	16.7567	0.85501	0.0:1.0:0.0:0.0	.	591;634;586;629;557;617	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	F	1164;617;549;591;600;629;634;629;554;586;600	ENSP00000452252:S1164F;ENSP00000343897:S617F;ENSP00000450869:S549F;ENSP00000379468:S600F;ENSP00000339286:S629F;ENSP00000379462:S634F;ENSP00000280083:S629F;ENSP00000452562:S554F;ENSP00000343912:S586F;ENSP00000450449:S600F	.	S	+	2	0	CTAGE5;RP11-407N17.3	38884913	1.000000	0.71417	0.985000	0.45067	0.904000	0.53231	4.462000	0.60121	2.577000	0.86979	0.580000	0.79431	TCT	CTAGE5	-	NULL	ENSG00000150527		0.328	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	88	0.00	0	C	NM_005930		39815162	39815162	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	missense	82	19.61	20	SNP	0.997	T
CTSL3P	392360	genome.wustl.edu	37	9	90401666	90401666	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:90401666C>T	ENST00000354530.2	+	0	524					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										TCCTAGTATTCTGGGAAGCAT	0.443																																						dbGAP											0													175.0	156.0	162.0					9																	90401666		2203	4300	6503	-	-	-			0			AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90401666C>T				RNA	SNP	-	NULL	ENST00000354530.2	37	NULL		9																																																																																			CTSL3	-	-	ENSG00000188029		0.443	CTSL3P-002	KNOWN	basic	processed_transcript	CTSL3	HGNC	pseudogene	OTTHUMT00000356542.1	74	0.00	0	C	NR_027917		90401666	90401666	+1	no_errors	ENST00000354530	ensembl	human	known	69_37n	rna	86	13.13	13	SNP	0.004	T
CUX1	1523	genome.wustl.edu	37	7	101842130	101842130	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:101842130G>A	ENST00000292535.7	+	16	1981	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R659Q|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R546Q	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	648					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTACCGAAACGAAGAAATGGG	0.453																																						dbGAP											0													134.0	117.0	123.0					7																	101842130		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1943G>A	7.37:g.101842130G>A	ENSP00000292535:p.Arg648Gln		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.R659Q	ENST00000292535.7	37	c.1976	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012192	0.93346	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000546411	T;T;T	0.61040	0.14;0.14;0.16	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.73466	0.3590	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.978;0.99	T	0.69375	-0.5162	10	0.37606	T	0.19	-9.9196	19.1191	0.93355	0.0:0.0:1.0:0.0	.	648;659	P39880;P39880-3	CUX1_HUMAN;.	Q	659;648;546	ENSP00000353401:R659Q;ENSP00000292535:R648Q;ENSP00000450125:R546Q	ENSP00000292535:R648Q	R	+	2	0	CUX1	101628850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.913000	0.92730	2.837000	0.97791	0.655000	0.94253	CGA	CUX1	-	NULL	ENSG00000257923		0.453	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	86	0.00	0	G	NM_001913		101842130	101842130	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	1.000	A
CT55	54967	genome.wustl.edu	37	X	134292176	134292176	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:134292176G>C	ENST00000276241.6	-	4	711	c.485C>G	c.(484-486)tCa>tGa	p.S162*	CXorf48_ENST00000344129.2_Nonsense_Mutation_p.S162*	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		162										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CTTGATGTTTGAGATGCCTGG	0.428																																						dbGAP											0													125.0	111.0	116.0					X																	134292176		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000276241.6:c.485C>G	X.37:g.134292176G>C	ENSP00000276241:p.Ser162*		Q9NWY8	Nonsense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.S162*	ENST00000276241.6	37	c.485	CCDS35400.1	X	.	.	.	.	.	.	.	.	.	.	g	13.97	2.395332	0.42512	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	.	.	.	2.21	-4.43	0.03568	.	1.870950	0.03476	N	0.214329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	1.3291	0.6909	0.00891	0.2236:0.1434:0.1996:0.4334	.	.	.	.	X	162	.	ENSP00000276241:S162X	S	-	2	0	CXorf48	134119842	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.105000	0.15333	-1.530000	0.01751	0.279000	0.19357	TCA	CXorf48	-	NULL	ENSG00000169551		0.428	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXorf48	HGNC	protein_coding	OTTHUMT00000058404.1	94	0.00	0	G			134292176	134292176	-1	no_errors	ENST00000276241	ensembl	human	known	69_37n	nonsense	54	18.18	12	SNP	0.000	C
CYP2C19	1557	genome.wustl.edu	37	10	96602677	96602677	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:96602677G>A	ENST00000371321.3	+	7	1127	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	349					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GCCCTACACAGATGCTGTGGT	0.537																																						dbGAP											0													203.0	167.0	179.0					10																	96602677		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1045G>A	10.37:g.96602677G>A	ENSP00000360372:p.Asp349Asn		P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.D349N	ENST00000371321.3	37	c.1045	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355959	0.41700	.	.	ENSG00000165841	ENST00000371321	T	0.69175	-0.38	3.37	2.42	0.29668	.	0.000000	0.64402	U	0.000001	T	0.51007	0.1649	L	0.27975	0.815	0.30896	N	0.729756	P	0.37466	0.596	B	0.38803	0.282	T	0.58340	-0.7653	10	0.49607	T	0.09	.	9.108	0.36710	0.1253:0.0:0.8747:0.0	.	349	P33261	CP2CJ_HUMAN	N	349	ENSP00000360372:D349N	ENSP00000360372:D349N	D	+	1	0	CYP2C19	96592667	1.000000	0.71417	0.389000	0.26208	0.664000	0.39144	4.263000	0.58853	1.590000	0.49995	0.505000	0.49811	GAT	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000165841		0.537	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	87	0.00	0	G	NM_000769		96602677	96602677	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	missense	58	30.59	26	SNP	0.984	A
CYP2J2	1573	genome.wustl.edu	37	1	60378062	60378062	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:60378062C>T	ENST00000371204.3	-	3	417				CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2						arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GAATGTGTATCAGATGAAGGA	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.374-79G>A	1.37:g.60378062C>T			B2RD33|Q8TF13	RNA	SNP	-	NULL	ENST00000371204.3	37	NULL	CCDS613.1	1																																																																																			CYP2J2	-	-	ENSG00000134716		0.363	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	18	0.00	0	C	NM_000775		60378062	60378062	-1	no_errors	ENST00000492633	ensembl	human	known	69_37n	rna	21	33.33	11	SNP	0.008	T
DAP3	7818	genome.wustl.edu	37	1	155686854	155686854	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:155686854C>T	ENST00000368336.5	+	3	227	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	DAP3_ENST00000465375.1_Missense_Mutation_p.H35Y|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.H35Y|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.H35Y|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000535183.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	35					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CATTGCTGCTCACCTAGATAA	0.473																																						dbGAP											0													86.0	88.0	87.0					1																	155686854		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.103C>T	1.37:g.155686854C>T	ENSP00000357320:p.His35Tyr		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.H35Y	ENST00000368336.5	37	c.103	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	c	9.442	1.088225	0.20390	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.46063	0.97;0.97;0.88	4.54	2.51	0.30379	.	0.825379	0.10992	N	0.611506	T	0.10165	0.0249	L	0.44542	1.39	0.09310	N	0.999998	B;B;B	0.31730	0.337;0.337;0.275	B;B;B	0.31614	0.133;0.085;0.086	T	0.35151	-0.9800	10	0.02654	T	1	-0.1685	5.1874	0.15191	0.3:0.5913:0.0:0.1087	.	35;35;35	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	Y	35	ENSP00000357320:H35Y;ENSP00000341692:H35Y;ENSP00000412605:H35Y	ENSP00000341692:H35Y	H	+	1	0	DAP3	153953478	0.001000	0.12720	0.002000	0.10522	0.693000	0.40251	1.165000	0.31822	1.125000	0.41998	-0.218000	0.12543	CAC	DAP3	-	NULL	ENSG00000132676		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	55	0.00	0	C	NM_004632		155686854	155686854	+1	no_errors	ENST00000343043	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	0.001	T
DCLRE1B	64858	genome.wustl.edu	37	1	114454081	114454081	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:114454081G>A	ENST00000369563.3	+	4	1313	c.867G>A	c.(865-867)ctG>ctA	p.L289L	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	289					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGCAGCACTGAAGCCTTGCC	0.577								Other identified genes with known or suspected DNA repair function																														dbGAP											0													100.0	90.0	93.0					1																	114454081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.867G>A	1.37:g.114454081G>A			Q9H9E5	Silent	SNP	pfam_DRMBL	p.L289	ENST00000369563.3	37	c.867	CCDS866.1	1																																																																																			DCLRE1B	-	pfam_DRMBL	ENSG00000118655		0.577	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	53	0.00	0	G	NM_022836		114454081	114454081	+1	no_errors	ENST00000369563	ensembl	human	known	69_37n	silent	38	13.64	6	SNP	0.426	A
DARS2	55157	genome.wustl.edu	37	1	173806108	173806108	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:173806108G>A	ENST00000361951.4	+	8	1421	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	232					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ACCATCCAGGGAACCTGGAAA	0.383																																						dbGAP											0													152.0	174.0	167.0					1																	173806108		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.694G>A	1.37:g.173806108G>A	ENSP00000355086:p.Glu232Lys			Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-synth_IIb_bac/mt	p.E232K	ENST00000361951.4	37	c.694	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972483	0.74246	.	.	ENSG00000117593	ENST00000361951	D	0.83992	-1.79	5.42	5.42	0.78866	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.046065	0.85682	D	0.000000	T	0.80025	0.4548	N	0.16066	0.365	0.80722	D	1	D	0.58268	0.982	P	0.62560	0.904	D	0.84852	0.0814	10	0.87932	D	0	-11.779	17.9836	0.89148	0.0:0.0:1.0:0.0	.	232	Q6PI48	SYDM_HUMAN	K	232	ENSP00000355086:E232K	ENSP00000355086:E232K	E	+	1	0	DARS2	172072731	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.447000	0.97595	2.540000	0.85666	0.655000	0.94253	GAA	DARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-synth_IIb_bac/mt	ENSG00000117593		0.383	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	136	0.00	0	G	NM_018122		173806108	173806108	+1	no_errors	ENST00000361951	ensembl	human	known	69_37n	missense	139	22.35	40	SNP	1.000	A
DDX3X	1654	genome.wustl.edu	37	X	41203588	41203588	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:41203588G>T	ENST00000399959.2	+	10	1816	c.961G>T	c.(961-963)Gta>Tta	p.V321L	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.V305L	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	321	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCATTTGTTAGTAGCCACTCC	0.393										HNSCC(61;0.18)																												dbGAP											0													222.0	215.0	218.0					X																	41203588		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.961G>T	X.37:g.41203588G>T	ENSP00000382840:p.Val321Leu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V321L	ENST00000399959.2	37	c.961	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	g	35	5.482008	0.96307	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.22539	1.95;1.95	5.71	5.71	0.89125	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	M	0.86740	2.835	0.80722	D	1	D;P;D;D;D	0.69078	0.986;0.909;0.967;0.997;0.997	D;P;P;D;D	0.71656	0.974;0.749;0.803;0.947;0.947	T	0.61978	-0.6951	10	0.87932	D	0	0.8176	18.8917	0.92407	0.0:0.0:1.0:0.0	.	321;305;321;333;321	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	L	321;305	ENSP00000382840:V321L;ENSP00000392494:V305L	ENSP00000382840:V321L	V	+	1	0	DDX3X	41088532	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.807000	0.99171	2.408000	0.81797	0.597000	0.82753	GTA	DDX3X	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000215301		0.393	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	243	0.00	0	G	NM_024005		41203588	41203588	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	missense	130	19.25	31	SNP	1.000	T
DDX4	54514	genome.wustl.edu	37	5	55082490	55082490	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:55082490G>T	ENST00000505374.1	+	14	1101	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	DDX4_ENST00000353507.5_Missense_Mutation_p.G303W|DDX4_ENST00000511853.1_Missense_Mutation_p.G188W|DDX4_ENST00000354991.5_Missense_Mutation_p.G303W|DDX4_ENST00000514278.2_Missense_Mutation_p.G317W	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	337	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AACAGGGTCTGGGAAGACTGT	0.408																																						dbGAP											0													102.0	98.0	99.0					5																	55082490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1009G>T	5.37:g.55082490G>T	ENSP00000424838:p.Gly337Trp		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G337W	ENST00000505374.1	37	c.1009	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711600	0.68730	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.07	5.07	0.68467	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.110517	0.64402	D	0.000007	D	0.96383	0.8820	H	0.99726	4.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.98374	1.0555	10	0.87932	D	0	-18.0389	18.6423	0.91399	0.0:0.0:1.0:0.0	.	317;188;303;337	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	W	303;317;337;317;303;188	ENSP00000334167:G303W;ENSP00000425359:G317W;ENSP00000424838:G337W;ENSP00000427167:G317W;ENSP00000347087:G303W;ENSP00000423123:G188W	ENSP00000334167:G303W	G	+	1	0	DDX4	55118247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.167000	0.94773	2.642000	0.89623	0.591000	0.81541	GGG	DDX4	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000152670		0.408	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	35	0.00	0	G	NM_024415		55082490	55082490	+1	no_errors	ENST00000505374	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	T
DDX42	11325	genome.wustl.edu	37	17	61864561	61864561	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:61864561C>G	ENST00000578681.1	+	3	753	c.152C>G	c.(151-153)tCa>tGa	p.S51*	DDX42_ENST00000583590.1_Nonsense_Mutation_p.S51*|DDX42_ENST00000457800.2_Nonsense_Mutation_p.S51*|DDX42_ENST00000389924.2_Nonsense_Mutation_p.S51*|DDX42_ENST00000359353.5_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	51					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.S51*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGGAAAGTCAGCTCCACCA	0.478																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											121.0	116.0	117.0					17																	61864561		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.152C>G	17.37:g.61864561C>G	ENSP00000464050:p.Ser51*		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S51*	ENST00000578681.1	37	c.152	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.017990	0.99318	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	.	.	.	5.79	5.79	0.91817	.	0.850423	0.10613	N	0.654243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-4.8758	19.015	0.92890	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000374574:S51X	S	+	2	0	DDX42	59218293	0.999000	0.42202	0.991000	0.47740	0.995000	0.86356	5.955000	0.70306	2.725000	0.93324	0.555000	0.69702	TCA	DDX42	-	NULL	ENSG00000198231		0.478	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	113	0.00	0	C	NM_007372		61864561	61864561	+1	no_errors	ENST00000389924	ensembl	human	known	69_37n	nonsense	175	18.89	41	SNP	1.000	G
DDX42	11325	genome.wustl.edu	37	17	61876968	61876968	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:61876968G>A	ENST00000578681.1	+	6	1055	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	DDX42_ENST00000583590.1_Missense_Mutation_p.E152K|DDX42_ENST00000359353.5_Missense_Mutation_p.E33K|DDX42_ENST00000457800.2_Missense_Mutation_p.E152K|DDX42_ENST00000389924.2_Missense_Mutation_p.E152K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	152					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGATGACATTGAAGAGGAAGA	0.413																																						dbGAP											0													240.0	235.0	237.0					17																	61876968		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.454G>A	17.37:g.61876968G>A	ENSP00000464050:p.Glu152Lys		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E152K	ENST00000578681.1	37	c.454	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434066	0.83776	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.20598	2.06;2.06	5.81	5.81	0.92471	.	0.198859	0.53938	D	0.000057	T	0.47967	0.1474	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.26608	-1.0098	10	0.40728	T	0.16	-24.4502	19.063	0.93100	0.0:0.0:1.0:0.0	.	152	Q86XP3	DDX42_HUMAN	K	152	ENSP00000374574:E152K;ENSP00000390121:E152K	ENSP00000374574:E152K	E	+	1	0	DDX42	59230700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.759000	0.94783	0.591000	0.81541	GAA	DDX42	-	NULL	ENSG00000198231		0.413	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	121	0.00	0	G	NM_007372		61876968	61876968	+1	no_errors	ENST00000389924	ensembl	human	known	69_37n	missense	209	16.67	42	SNP	1.000	A
DDX60L	91351	genome.wustl.edu	37	4	169305835	169305835	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:169305835G>A	ENST00000511577.1	-	30	4291	c.4044C>T	c.(4042-4044)ctC>ctT	p.L1348L	DDX60L_ENST00000260184.7_Silent_p.L1348L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1348	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGGTTATGCTGAGAGGGAACT	0.507																																						dbGAP											0													77.0	76.0	76.0					4																	169305835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4044C>T	4.37:g.169305835G>A			Q96ND6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1348	ENST00000511577.1	37	c.4044		4																																																																																			DDX60L	-	pfscan_Helicase_C	ENSG00000181381		0.507	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	72	0.00	0	G	NM_001012967		169305835	169305835	-1	no_errors	ENST00000260184	ensembl	human	known	69_37n	silent	43	29.51	18	SNP	0.027	A
DEK	7913	genome.wustl.edu	37	6	18249944	18249944	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:18249944C>T	ENST00000397239.3	-	7	1147	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	DEK_ENST00000244776.7_Missense_Mutation_p.E200K	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	234	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTTTCATCTTCATCACTACTA	0.348			T	NUP214	AML																																	dbGAP		Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													89.0	83.0	85.0					6																	18249944		2203	4299	6502	-	-	-	SO:0001583	missense	0			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.700G>A	6.37:g.18249944C>T	ENSP00000380414:p.Glu234Lys		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd	p.E234K	ENST00000397239.3	37	c.700	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983156	0.74474	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.48836	0.8;0.84	5.85	5.85	0.93711	.	0.212531	0.48767	D	0.000169	T	0.50888	0.1642	L	0.47716	1.5	0.51482	D	0.999923	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	T	0.25779	-1.0122	10	0.08381	T	0.77	-4.8221	20.5471	0.99284	0.0:1.0:0.0:0.0	.	200;234	B4DN37;P35659	.;DEK_HUMAN	K	234;200;10	ENSP00000380414:E234K;ENSP00000244776:E200K	ENSP00000244776:E200K	E	-	1	0	DEK	18357923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.038000	0.64177	2.941000	0.99782	0.655000	0.94253	GAA	DEK	-	NULL	ENSG00000124795		0.348	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	173	0.00	0	C			18249944	18249944	-1	no_errors	ENST00000397239	ensembl	human	known	69_37n	missense	104	24.64	34	SNP	1.000	T
DFNB59	494513	genome.wustl.edu	37	2	179320772	179320772	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:179320772C>G	ENST00000409117.3	+	4	799	c.443C>G	c.(442-444)tCa>tGa	p.S148*	DFNB59_ENST00000375129.4_Nonsense_Mutation_p.S148*|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	148					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATACGTCAGTCAAGGAGCAGC	0.403																																						dbGAP											0													54.0	55.0	55.0					2																	179320772		1995	4160	6155	-	-	-	SO:0001587	stop_gained	0			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.443C>G	2.37:g.179320772C>G	ENSP00000386647:p.Ser148*		A0PK14|B9EJE2	Nonsense_Mutation	SNP	pfam_Gasdermin	p.S148*	ENST00000409117.3	37	c.443	CCDS42787.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208333	0.79240	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	.	.	.	5.77	4.9	0.64082	.	0.000000	0.32401	U	0.006158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-14.242	15.3464	0.74340	0.0:0.9327:0.0:0.0673	.	.	.	.	X	148	.	ENSP00000364271:S148X	S	+	2	0	DFNB59	179029018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.742000	0.85008	1.578000	0.49821	0.655000	0.94253	TCA	DFNB59	-	pfam_Gasdermin	ENSG00000204311		0.403	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB59	HGNC	protein_coding	OTTHUMT00000335160.1	36	0.00	0	C			179320772	179320772	+1	no_errors	ENST00000375129	ensembl	human	known	69_37n	nonsense	31	20.51	8	SNP	1.000	G
DGCR14	8220	genome.wustl.edu	37	22	19127420	19127420	+	Missense_Mutation	SNP	C	C	T	rs534119591		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:19127420C>T	ENST00000252137.6	-	4	561	c.518G>A	c.(517-519)aGa>aAa	p.R173K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	173					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGCCCGGCTTCTCTCCTTGGC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19659	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													150.0	145.0	147.0					22																	19127420		2203	4300	6503	-	-	-	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.518G>A	22.37:g.19127420C>T	ENSP00000252137:p.Arg173Lys		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.R173K	ENST00000252137.6	37	c.518	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.176508	0.01646	.	.	ENSG00000100056	ENST00000252137	T	0.35605	1.3	4.98	1.7	0.24286	.	0.142496	0.64402	N	0.000006	T	0.07548	0.0190	N	0.00315	-1.66	0.33008	D	0.527171	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	10	0.02654	T	1	-23.1658	8.5459	0.33421	0.0:0.2293:0.0:0.7707	.	173	Q96DF8	DGC14_HUMAN	K	173	ENSP00000252137:R173K	ENSP00000252137:R173K	R	-	2	0	DGCR14	17507420	1.000000	0.71417	0.968000	0.41197	0.032000	0.12392	3.769000	0.55303	0.071000	0.16664	-0.793000	0.03317	AGA	DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.602	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	48	0.00	0	C			19127420	19127420	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	1.000	T
DHRS7	51635	genome.wustl.edu	37	14	60619764	60619764	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:60619764G>A	ENST00000216500.5	-	5	981	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.H176Y|DHRS7_ENST00000536410.2_Missense_Mutation_p.H126Y|PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	176						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCGATCATGTGAGGCAGAACA	0.448																																						dbGAP											0													210.0	172.0	185.0					14																	60619764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.526C>T	14.37:g.60619764G>A	ENSP00000216500:p.His176Tyr		B2R896|Q9UKU2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.H176Y	ENST00000216500.5	37	c.526	CCDS9743.1	14	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771096	0.31320	.	.	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	D;D;D	0.84516	-1.83;-1.83;-1.86	5.42	4.54	0.55810	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	N	0.13371	0.34	0.58432	D	0.999998	B;B	0.23442	0.018;0.085	B;B	0.31686	0.019;0.134	T	0.67780	-0.5582	10	0.12430	T	0.62	.	14.515	0.67814	0.0702:0.0:0.9298:0.0	.	176;176	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	Y	176;176;176;126	ENSP00000216500:H176Y;ENSP00000451882:H176Y;ENSP00000442993:H126Y	ENSP00000216500:H176Y	H	-	1	0	DHRS7	59689517	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.453000	0.73488	1.534000	0.49203	-0.244000	0.11960	CAC	DHRS7	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000100612		0.448	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS7	HGNC	protein_coding	OTTHUMT00000276947.2	38	0.00	0	G	NM_016029		60619764	60619764	-1	no_errors	ENST00000216500	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	A
DICER1	23405	genome.wustl.edu	37	14	95569715	95569715	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:95569715C>G	ENST00000526495.1	-	23	4309	c.4018G>C	c.(4018-4020)Gag>Cag	p.E1340Q	DICER1_ENST00000527414.1_Missense_Mutation_p.E1340Q|DICER1_ENST00000556045.1_Missense_Mutation_p.E238Q|DICER1_ENST00000343455.3_Missense_Mutation_p.E1340Q|DICER1_ENST00000393063.1_Missense_Mutation_p.E1340Q|DICER1_ENST00000541352.1_Missense_Mutation_p.E1340Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1340	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGGCGGCCCTCATGCGCATCA	0.408			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													64.0	71.0	68.0					14																	95569715		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4018G>C	14.37:g.95569715C>G	ENSP00000437256:p.Glu1340Gln		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.E1340Q	ENST00000526495.1	37	c.4018	CCDS9931.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.818274|4.818274	0.90790|0.90790	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	D;D;D;D;D;D|.	0.89343|.	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Ribonuclease III (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84070|.	0.5391|.	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.97110|.	0.996;1.0;0.998|.	D|.	0.85599|.	0.1251|.	10|.	0.42905|.	T|.	0.14|.	-21.9419|-21.9419	19.5503|19.5503	0.95314|0.95314	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238;1340;1340|.	B3KRG4;E0AD28;Q9UPY3|.	.;.;DICER_HUMAN|.	Q|S	1340;1340;1340;1340;238;1340|18	ENSP00000343745:E1340Q;ENSP00000437256:E1340Q;ENSP00000376783:E1340Q;ENSP00000435681:E1340Q;ENSP00000451041:E238Q;ENSP00000444719:E1340Q|.	ENSP00000343745:E1340Q|.	E|X	-|-	1|2	0|2	DICER1|DICER1	94639468|94639468	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.990000|0.990000	0.78478|0.78478	7.786000|7.786000	0.85741|0.85741	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GAG|TGA	DICER1	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom	ENSG00000100697		0.408	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	34	0.00	0	C			95569715	95569715	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	G
DIEXF	27042	genome.wustl.edu	37	1	210001507	210001507	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:210001507C>T	ENST00000491415.2	+	1	156	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	33					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGCATCCCTTCTATGACAGGT	0.562											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													50.0	48.0	49.0					1																	210001507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.99C>T	1.37:g.210001507C>T		2187	O75992|Q4VY00|Q63HL9	Silent	SNP	pfam_Digest_organ_expansion_fac-prd	p.F33	ENST00000491415.2	37	c.99	CCDS1493.1	1																																																																																			DIEXF	-	NULL	ENSG00000117597		0.562	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	24	0.00	0	C	NM_014388		210001507	210001507	+1	no_errors	ENST00000491415	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223116391	223116391	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:223116391C>G	ENST00000284476.6	+	2	390	c.226C>G	c.(226-228)Cag>Gag	p.Q76E	DISP1_ENST00000360254.2_Missense_Mutation_p.Q76E|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	76					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGAATGCCTCAGATGTTACC	0.498																																						dbGAP											0													243.0	212.0	223.0					1																	223116391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.226C>G	1.37:g.223116391C>G	ENSP00000284476:p.Gln76Glu		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.Q76E	ENST00000284476.6	37	c.226	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649834	0.14516	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.92299	0.8;-3.01	5.62	4.7	0.59300	.	0.649846	0.15748	N	0.246555	D	0.89873	0.6841	L	0.47716	1.5	0.28531	N	0.912565	B	0.19200	0.034	B	0.18263	0.021	D	0.83450	0.0048	10	0.52906	T	0.07	-5.6881	16.4831	0.84163	0.0:0.8686:0.1314:0.0	.	76	Q96F81	DISP1_HUMAN	E	76	ENSP00000355848:Q76E;ENSP00000284476:Q76E	ENSP00000284476:Q76E	Q	+	1	0	DISP1	221183014	1.000000	0.71417	0.244000	0.24202	0.952000	0.60782	2.385000	0.44371	1.353000	0.45828	0.650000	0.86243	CAG	DISP1	-	NULL	ENSG00000154309		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	126	0.00	0	C	NM_032890		223116391	223116391	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	missense	93	16.22	18	SNP	1.000	G
DLEU7	220107	genome.wustl.edu	37	13	51287277	51287277	+	3'UTR	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:51287277C>T	ENST00000400393.3	-	0	851				DLEU7_ENST00000443723.1_5'UTR	NM_198989.2	NP_945340.2	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7														Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		CTCATCCCATCTGGCATTCAG	0.458																																						dbGAP											0													78.0	66.0	70.0					13																	51287277		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000400393.3:c.*76G>A	13.37:g.51287277C>T			Q2M2E4|Q6ZT82	RNA	SNP	-	NULL	ENST00000400393.3	37	NULL	CCDS53869.1	13																																																																																			DLEU7	-	-	ENSG00000186047		0.458	DLEU7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEU7	HGNC	protein_coding	OTTHUMT00000361815.1	34	0.00	0	C	NM_198989		51287277	51287277	-1	no_errors	ENST00000443723	ensembl	human	known	69_37n	rna	36	26.53	13	SNP	0.335	T
DMXL2	23312	genome.wustl.edu	37	15	51778354	51778354	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:51778354G>A	ENST00000251076.5	-	23	5685	c.5398C>T	c.(5398-5400)Ctt>Ttt	p.L1800F	DMXL2_ENST00000449909.3_Missense_Mutation_p.L1164F|DMXL2_ENST00000543779.2_Missense_Mutation_p.L1800F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1800						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAATAGGCAAGACTACGCAGG	0.423																																						dbGAP											0													114.0	106.0	109.0					15																	51778354		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5398C>T	15.37:g.51778354G>A	ENSP00000251076:p.Leu1800Phe		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1800F	ENST00000251076.5	37	c.5398	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167351	0.78339	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.36699	1.24;1.24;1.24	5.52	5.52	0.82312	.	0.049202	0.85682	D	0.000000	T	0.49762	0.1576	L	0.43152	1.355	0.41549	D	0.988567	P;D;P	0.69078	0.903;0.997;0.921	P;D;P	0.65233	0.598;0.933;0.746	T	0.48636	-0.9018	10	0.72032	D	0.01	.	13.7761	0.63055	0.0:0.0:0.7457:0.2543	.	1800;1164;1800	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	F	1800;1800;1164	ENSP00000251076:L1800F;ENSP00000441858:L1800F;ENSP00000400855:L1164F	ENSP00000251076:L1800F	L	-	1	0	DMXL2	49565646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.362000	0.59467	2.739000	0.93911	0.655000	0.94253	CTT	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	73	0.00	0	G	NM_015263		51778354	51778354	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	1.000	A
DNAH12	201625	genome.wustl.edu	37	3	57335860	57335860	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:57335860C>T	ENST00000351747.2	-	55	8873	c.8693G>A	c.(8692-8694)gGa>gAa	p.G2898E	DNAH12_ENST00000344804.4_Missense_Mutation_p.G485E	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2898	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TGGAACCTTTCCAACAAGTAA	0.448																																						dbGAP											0													132.0	114.0	120.0					3																	57335860		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.8693G>A	3.37:g.57335860C>T	ENSP00000295937:p.Gly2898Glu		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy	p.W588*	ENST00000351747.2	37	c.1764		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.116649|3.116649	0.56505|0.56505	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000351747;ENST00000466540;ENST00000344804|ENST00000462199	T;T;T|.	0.08634|.	3.07;3.07;3.07|.	5.53|5.53	3.64|3.64	0.41730|0.41730	Dynein heavy chain (1);|.	0.111308|.	0.64402|.	N|.	0.000010|.	T|.	0.77678|.	0.4166|.	M|M	0.93507|0.93507	3.425|3.425	0.33983|0.33983	D|D	0.648229|0.648229	P;D|.	0.89917|.	0.908;1.0|.	P;D|.	0.83275|.	0.787;0.996|.	D|.	0.86412|.	0.1749|.	10|.	0.72032|.	D|.	0.01|.	.|.	10.788|10.788	0.46415|0.46415	0.0:0.7975:0.1313:0.0711|0.0:0.7975:0.1313:0.0711	.|.	485;2898|.	Q6ZR08-2;Q6ZR08|.	.;DYH12_HUMAN|.	E|X	2898;543;485|588	ENSP00000295937:G2898E;ENSP00000420359:G543E;ENSP00000340464:G485E|.	ENSP00000340464:G485E|.	G|W	-|-	2|3	0|0	DNAH12|DNAH12	57310900|57310900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.281000|0.281000	0.26958|0.26958	5.902000|5.902000	0.69869|0.69869	1.337000|1.337000	0.45525|0.45525	-0.145000|-0.145000	0.13849|0.13849	GGA|TGG	DNAH12	-	pfam_Dynein_heavy	ENSG00000174844		0.448	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		68	0.00	0	C	NM_178504		57335860	57335860	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000462199	ensembl	human	putative	69_37n	nonsense	42	28.33	17	SNP	1.000	T
DNAH14	127602	genome.wustl.edu	37	1	225155281	225155281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:225155281C>G	ENST00000445597.2	+	7	1028	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	DNAH14_ENST00000430092.1_Nonsense_Mutation_p.S216*|DNAH14_ENST00000366848.1_Nonsense_Mutation_p.S216*|DNAH14_ENST00000400952.3_Nonsense_Mutation_p.S216*|DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.S216*|DNAH14_ENST00000366850.3_Nonsense_Mutation_p.S216*			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	343					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCATTTATCTCAAAGGTAATG	0.299																																						dbGAP											0													114.0	108.0	110.0					1																	225155281		1811	4067	5878	-	-	-	SO:0001587	stop_gained	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1028C>G	1.37:g.225155281C>G	ENSP00000409472:p.Ser343*		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.S216*	ENST00000445597.2	37	c.647		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.596345|5.596345	0.96602|0.96602	.|.	.|.	ENSG00000185842|ENSG00000185842	ENST00000433124|ENST00000445597;ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366848;ENST00000439375	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|.	.|.	.|.	.|.	T|.	0.76919|.	0.4055|.	.|.	.|.	.|.	0.50813|0.50813	D|D	0.999894|0.999894	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78790|.	-0.2066|.	4|.	.|0.72032	.|D	.|0.01	.|.	16.8378|16.8378	0.85961|0.85961	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	114|343;216;216;216;216;216	.|.	.|ENSP00000355813:S216X	Q|S	+|+	1|2	0|0	DNAH14|DNAH14	223221904|223221904	0.961000|0.961000	0.32948|0.32948	0.800000|0.800000	0.32199|0.32199	0.442000|0.442000	0.32017|0.32017	3.283000|3.283000	0.51701|0.51701	2.715000|2.715000	0.92844|0.92844	0.543000|0.543000	0.68304|0.68304	CAA|TCA	DNAH14	-	NULL	ENSG00000185842		0.299	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	63	0.00	0	C	XM_059166		225155281	225155281	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	nonsense	124	10.14	14	SNP	0.951	G
DNAH6	1768	genome.wustl.edu	37	2	84745089	84745089	+	Missense_Mutation	SNP	G	G	C	rs373341060		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:84745089G>C	ENST00000237449.6	+	1	147	c.139G>C	c.(139-141)Gat>Cat	p.D47H	DNAH6_ENST00000389394.3_Missense_Mutation_p.D47H|DNAH6_ENST00000398278.2_Missense_Mutation_p.D47H|DNAH6_ENST00000468661.1_3'UTR			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	47	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAATGAATCTGATACACAAAT	0.353																																						dbGAP											0													122.0	99.0	106.0					2																	84745089		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.139G>C	2.37:g.84745089G>C	ENSP00000237449:p.Asp47His		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D47H	ENST00000237449.6	37	c.139	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229224	0.22542	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.28895	1.59;1.71;1.59	4.96	4.08	0.47627	.	.	.	.	.	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.34873	0.191	T	0.22138	-1.0225	9	0.62326	D	0.03	.	7.9856	0.30210	0.1877:0.0:0.8123:0.0	.	47	Q9C0G6	DYH6_HUMAN	H	47	ENSP00000374045:D47H;ENSP00000381326:D47H;ENSP00000237449:D47H	ENSP00000237449:D47H	D	+	1	0	DNAH6	84598600	0.031000	0.19500	0.001000	0.08648	0.001000	0.01503	2.233000	0.43027	1.238000	0.43771	-0.229000	0.12294	GAT	DNAH6	-	NULL	ENSG00000115423		0.353	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	52	0.00	0	G	NM_001370		84745089	84745089	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.001	C
DNAH8	1769	genome.wustl.edu	37	6	38885163	38885163	+	Missense_Mutation	SNP	C	C	T	rs62398575		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:38885163C>T	ENST00000359357.3	+	67	9892	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S3177L|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3430L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3213	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTAAGCCATCATGGGGAGAG	0.393																																						dbGAP											0													123.0	118.0	119.0					6																	38885163		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9638C>T	6.37:g.38885163C>T	ENSP00000352312:p.Ser3213Leu		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3213L	ENST00000359357.3	37	c.9638		6	.	.	.	.	.	.	.	.	.	.	C	32	5.168962	0.94768	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.80033	-1.33;-1.33;-1.33	5.75	5.75	0.90469	Dynein heavy chain, coiled coil stalk (1);	0.148137	0.47455	D	0.000232	D	0.92348	0.7572	H	0.95151	3.63	0.80722	D	1	D	0.63046	0.992	D	0.66351	0.943	D	0.93834	0.7130	10	0.87932	D	0	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	3213	Q96JB1	DYH8_HUMAN	L	3418;3418;3213;3177	ENSP00000333363:S3418L;ENSP00000352312:S3213L;ENSP00000402294:S3177L	ENSP00000333363:S3418L	S	+	2	0	DNAH8	38993141	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.818000	0.86416	2.712000	0.92718	0.591000	0.81541	TCA	DNAH8	-	NULL	ENSG00000124721		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	63	0.00	0	C	NM_001206927		38885163	38885163	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	1.000	T
DNAJC16	23341	genome.wustl.edu	37	1	15888676	15888676	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:15888676G>C	ENST00000375847.3	+	9	1358	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.L398F|DNAJC16_ENST00000375838.1_Missense_Mutation_p.L398F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	398					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTACCAAGTTGAGCAAACCCT	0.468																																						dbGAP											0													201.0	184.0	190.0					1																	15888676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1194G>C	1.37:g.15888676G>C	ENSP00000365007:p.Leu398Phe		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.L398F	ENST00000375847.3	37	c.1194	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	2.610	-0.291044	0.05568	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.15256	2.44;2.44;2.44	5.96	-2.61	0.06171	.	0.913901	0.09458	N	0.799439	T	0.04092	0.0114	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42120	-0.9470	10	0.09338	T	0.73	-0.1561	0.7973	0.01068	0.3823:0.2129:0.2369:0.1679	.	398;398	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	F	398	ENSP00000365007:L398F;ENSP00000364998:L398F;ENSP00000365009:L398F	ENSP00000364998:L398F	L	+	3	2	DNAJC16	15761263	0.000000	0.05858	0.004000	0.12327	0.913000	0.54294	-0.287000	0.08388	-0.090000	0.12462	-0.145000	0.13849	TTG	DNAJC16	-	NULL	ENSG00000116138		0.468	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	116	0.00	0	G	NM_015291		15888676	15888676	+1	no_errors	ENST00000375847	ensembl	human	known	69_37n	missense	85	22.73	25	SNP	0.000	C
DNAJC16	23341	genome.wustl.edu	37	1	15890499	15890499	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:15890499G>C	ENST00000375847.3	+	10	1578	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E472Q|DNAJC16_ENST00000375838.1_Missense_Mutation_p.E472Q|RP4-680D5.8_ENST00000606186.1_RNA	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	472					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTGGGAGTGAGAGTGACAA	0.468																																						dbGAP											0													178.0	188.0	185.0					1																	15890499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1414G>C	1.37:g.15890499G>C	ENSP00000365007:p.Glu472Gln		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.E472Q	ENST00000375847.3	37	c.1414	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506209	0.44558	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.17213	2.29;2.29;2.29	6.17	5.26	0.73747	.	0.189300	0.56097	D	0.000025	T	0.18045	0.0433	L	0.50333	1.59	0.25384	N	0.988586	B;B	0.25351	0.1;0.124	B;B	0.29267	0.074;0.1	T	0.13791	-1.0496	10	0.33940	T	0.23	-27.6813	11.1989	0.48730	0.1468:0.0:0.8532:0.0	.	472;472	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	Q	472	ENSP00000365007:E472Q;ENSP00000364998:E472Q;ENSP00000365009:E472Q	ENSP00000364998:E472Q	E	+	1	0	DNAJC16	15763086	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	5.097000	0.64542	1.631000	0.50456	0.655000	0.94253	GAG	DNAJC16	-	NULL	ENSG00000116138		0.468	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	57	0.00	0	G	NM_015291		15890499	15890499	+1	no_errors	ENST00000375847	ensembl	human	known	69_37n	missense	59	16.90	12	SNP	0.999	C
DOCK1	1793	genome.wustl.edu	37	10	129160347	129160347	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:129160347C>A	ENST00000280333.6	+	33	3349	c.3240C>A	c.(3238-3240)ttC>ttA	p.F1080L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1080					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGATAAAGTTCATTCCAGAAA	0.373																																						dbGAP											0													47.0	44.0	45.0					10																	129160347		1956	4161	6117	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3240C>A	10.37:g.129160347C>A	ENSP00000280333:p.Phe1080Leu		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.F1080L	ENST00000280333.6	37	c.3240		10	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193025	0.78902	.	.	ENSG00000150760	ENST00000280333	T	0.39229	1.09	5.15	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	M	0.75615	2.305	0.80722	D	1	P;D;D	0.69078	0.947;0.997;0.97	P;D;P	0.70716	0.78;0.97;0.77	T	0.60895	-0.7172	10	0.87932	D	0	.	8.9654	0.35874	0.0:0.7713:0.0:0.2287	.	1080;1146;1080	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	L	1080	ENSP00000280333:F1080L	ENSP00000280333:F1080L	F	+	3	2	DOCK1	129050337	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.567000	0.36407	0.753000	0.32945	-0.143000	0.13931	TTC	DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.373	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	36	0.00	0	C	NM_001380		129160347	129160347	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	1.000	A
DOCK4	9732	genome.wustl.edu	37	7	111451976	111451976	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:111451976G>C	ENST00000437633.1	-	28	3216	c.2960C>G	c.(2959-2961)tCa>tGa	p.S987*	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Nonsense_Mutation_p.S987*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	987					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAGTGCATCTGAGAGGTATAG	0.284																																						dbGAP											0													33.0	31.0	32.0					7																	111451976		1718	3845	5563	-	-	-	SO:0001587	stop_gained	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2960C>G	7.37:g.111451976G>C	ENSP00000404179:p.Ser987*		O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.S987*	ENST00000437633.1	37	c.2960	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.135164|9.135164	0.99077|0.99077	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|.	.|.	.|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.76990|.	0.4065|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80466|.	-0.1370|.	4|.	.|0.87932	.|D	.|0	.|.	17.6893|17.6893	0.88265|0.88265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	439;1011|975;987;987;975;986	.|.	.|ENSP00000345432:S975X	Q|S	-|-	1|2	0|0	DOCK4|DOCK4	111239212|111239212	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	8.088000|8.088000	0.89523|0.89523	2.572000|2.572000	0.86782|0.86782	0.650000|0.650000	0.86243|0.86243	CAG|TCA	DOCK4	-	NULL	ENSG00000128512		0.284	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	46	0.00	0	G	NM_014705		111451976	111451976	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	nonsense	33	23.26	10	SNP	1.000	C
DOCK7	85440	genome.wustl.edu	37	1	62959997	62959997	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:62959997C>T	ENST00000340370.5	-	39	5090	c.5073G>A	c.(5071-5073)ttG>ttA	p.L1691L	DOCK7_ENST00000251157.5_Silent_p.L1713L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1722	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCAGCATGCTCAAATATTCAG	0.443																																						dbGAP											0													98.0	79.0	85.0					1																	62959997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5073G>A	1.37:g.62959997C>T			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,superfamily_ARM-type_fold	p.E885K	ENST00000340370.5	37	c.2653	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755136	0.15846	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	T	0.62466	0.2430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59616	-0.7421	4	.	.	.	.	10.7528	0.46219	0.0:0.8601:0.0:0.1399	.	.	.	.	K	885	.	.	E	-	1	0	DOCK7	62732585	0.969000	0.33509	0.998000	0.56505	0.844000	0.47949	0.046000	0.14035	2.840000	0.97914	0.655000	0.94253	GAG	DOCK7	-	NULL	ENSG00000116641		0.443	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	57	0.00	0	C	NM_033407		62959997	62959997	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454575	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	T
DOCK7	85440	genome.wustl.edu	37	1	62961313	62961313	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:62961313C>G	ENST00000340370.5	-	38	4887	c.4870G>C	c.(4870-4872)Gat>Cat	p.D1624H	DOCK7_ENST00000251157.5_Missense_Mutation_p.D1646H	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1655					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCACAGTATCAGAAAGAATC	0.343																																						dbGAP											0													82.0	84.0	83.0					1																	62961313		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4870G>C	1.37:g.62961313C>G	ENSP00000340742:p.Asp1624His		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.D1646H	ENST00000340370.5	37	c.4936	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.115439|5.115439	0.94339|0.94339	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.06068|.	3.35;3.35|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87192|.	0.6116|.	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.993;0.998;0.994;0.994;0.998;0.999|.	D|.	0.88914|.	0.3361|.	10|.	0.87932|.	D|.	0|.	.|.	20.5373|20.5373	0.99239|0.99239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1655;1646;1624;1615;1615;1646|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	H|S	1655;1646;1624;385|817	ENSP00000251157:D1646H;ENSP00000340742:D1624H|.	ENSP00000251157:D1646H|.	D|X	-|-	1|2	0|2	DOCK7|DOCK7	62733901|62733901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.814000|7.814000	0.86154|0.86154	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|TGA	DOCK7	-	NULL	ENSG00000116641		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	76	0.00	0	C	NM_033407		62961313	62961313	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	69	25.81	24	SNP	1.000	G
DOCK7	85440	genome.wustl.edu	37	1	62961323	62961323	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:62961323C>T	ENST00000340370.5	-	38	4877	c.4860G>A	c.(4858-4860)atG>atA	p.M1620I	DOCK7_ENST00000251157.5_Missense_Mutation_p.M1642I	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1651					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGAAAGAATCATATGGAGAT	0.338																																						dbGAP											0													81.0	82.0	82.0					1																	62961323		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4860G>A	1.37:g.62961323C>T	ENSP00000340742:p.Met1620Ile		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.M1642I	ENST00000340370.5	37	c.4926	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.284912|5.284912	0.95517|0.95517	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05382	.|3.45;3.45	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32376|0.32376	0.0827|0.0827	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.65815	.|0.983;0.995;0.99;0.99;0.93;0.967	.|P;D;P;P;P;P	.|0.68943	.|0.884;0.961;0.896;0.896;0.649;0.879	T|T	0.02244|0.02244	-1.1189|-1.1189	5|10	.|0.59425	.|D	.|0.04	.|.	20.5373|20.5373	0.99239|0.99239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1651;1642;1620;1611;1611;1642	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	N|I	814|1651;1642;1620;381	.|ENSP00000251157:M1642I;ENSP00000340742:M1620I	.|ENSP00000251157:M1642I	D|M	-|-	1|3	0|0	DOCK7|DOCK7	62733911|62733911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.814000|7.814000	0.86154|0.86154	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|ATG	DOCK7	-	NULL	ENSG00000116641		0.338	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	74	0.00	0	C	NM_033407		62961323	62961323	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	69	24.73	23	SNP	1.000	T
DPP8	54878	genome.wustl.edu	37	15	65790229	65790229	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:65790229C>T	ENST00000341861.5	-	5	2316	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	DPP8_ENST00000559233.1_Missense_Mutation_p.E246K|DPP8_ENST00000321147.6_Missense_Mutation_p.E246K|DPP8_ENST00000358939.4_Missense_Mutation_p.E230K|DPP8_ENST00000321118.7_Missense_Mutation_p.E246K|DPP8_ENST00000300141.6_Missense_Mutation_p.E230K|DPP8_ENST00000339244.5_Missense_Mutation_p.E246K	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	246					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTCTCCTTTCTTCTCTGGTT	0.368																																						dbGAP											0													179.0	154.0	162.0					15																	65790229		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.736G>A	15.37:g.65790229C>T	ENSP00000339208:p.Glu246Lys		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.E246K	ENST00000341861.5	37	c.736	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.177279	0.94846	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.93	4.93	0.64822	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	M	0.70787	2.145	0.30218	N	0.797066	D;D;P;D	0.67145	0.991;0.996;0.925;0.992	P;D;P;D	0.76071	0.906;0.987;0.661;0.944	T	0.60316	-0.7287	10	0.72032	D	0.01	-17.0833	18.143	0.89646	0.0:1.0:0.0:0.0	.	230;230;246;246	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	K	246;230;230;246;246;246;246	ENSP00000339208:E246K;ENSP00000351817:E230K;ENSP00000300141:E230K;ENSP00000318111:E246K;ENSP00000316373:E246K;ENSP00000341230:E246K;ENSP00000379013:E246K	ENSP00000300141:E230K	E	-	1	0	DPP8	63577282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.925000	0.75829	2.248000	0.74166	0.655000	0.94253	GAA	DPP8	-	pfam_Peptidase_S9B	ENSG00000074603		0.368	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	91	0.00	0	C	NM_017743		65790229	65790229	-1	no_errors	ENST00000341861	ensembl	human	known	69_37n	missense	86	10.42	10	SNP	1.000	T
DRGX	644168	genome.wustl.edu	37	10	50599324	50599324	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:50599324G>A	ENST00000374139.2	-	2	45				DRGX_ENST00000434016.1_Silent_p.I11I			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox						axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						AGAGCAAACTGATCAACCTGG	0.587																																						dbGAP											0													30.0	29.0	29.0					10																	50599324		1899	4116	6015	-	-	-	SO:0001627	intron_variant	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.35-17C>T	10.37:g.50599324G>A				Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.I11	ENST00000374139.2	37	c.33		10																																																																																			DRGX	-	NULL	ENSG00000165606		0.587	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	34	0.00	0	G	XM_060970		50599324	50599324	-1	no_errors	ENST00000434016	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	0.000	A
DROSHA	29102	genome.wustl.edu	37	5	31401594	31401594	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:31401594C>A	ENST00000511367.2	-	35	4314	c.4070G>T	c.(4069-4071)tGg>tTg	p.W1357L	DROSHA_ENST00000513349.1_Missense_Mutation_p.W1320L|DROSHA_ENST00000442743.1_Missense_Mutation_p.W1320L|DROSHA_ENST00000344624.3_Missense_Mutation_p.W1357L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1357	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTCTCTTTCCCACCTCATTTC	0.413																																						dbGAP											0													221.0	206.0	211.0					5																	31401594		1901	4124	6025	-	-	-	SO:0001583	missense	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.4070G>T	5.37:g.31401594C>A	ENSP00000425979:p.Trp1357Leu		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.W1357L	ENST00000511367.2	37	c.4070	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759789	0.49468	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.40225	1.63;1.63;1.04;1.04	5.69	5.69	0.88448	.	0.058913	0.64402	D	0.000001	T	0.28433	0.0703	N	0.19112	0.55	0.58432	D	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07888	-1.0749	10	0.15952	T	0.53	-12.3129	14.9593	0.71144	0.1427:0.8573:0.0:0.0	.	1320;1357	E7EMP9;Q9NRR4	.;RNC_HUMAN	L	1357;1357;1320;1320;1282	ENSP00000425979:W1357L;ENSP00000339845:W1357L;ENSP00000409335:W1320L;ENSP00000424161:W1320L	ENSP00000265075:W1282L	W	-	2	0	DROSHA	31437351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.380000	0.66202	2.840000	0.97914	0.655000	0.94253	TGG	DROSHA	-	NULL	ENSG00000113360		0.413	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	171	0.00	0	C	NM_013235		31401594	31401594	-1	no_errors	ENST00000344624	ensembl	human	known	69_37n	missense	110	26.00	39	SNP	1.000	A
DSE	29940	genome.wustl.edu	37	6	116579988	116579988	+	Missense_Mutation	SNP	G	G	A	rs563301503		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:116579988G>A	ENST00000540275.1	+	2	503	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	RP3-486I3.7_ENST00000448740.2_lincRNA			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	55					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GTATGACCTCGAAGGCATGCT	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000540275.1:c.382G>A	6.37:g.116579988G>A	ENSP00000446378:p.Glu128Lys		Q5R3K6	Missense_Mutation	SNP	NULL	p.E128K	ENST00000540275.1	37	c.382		6	.	.	.	.	.	.	.	.	.	.	G	4.607	0.112875	0.08831	.	.	ENSG00000111817	ENST00000540275	.	.	.	2.61	-5.21	0.02815	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	5	0.87932	D	0	.	2.1858	0.03886	0.5818:0.1522:0.1154:0.1505	.	.	.	.	K	128	.	ENSP00000446378:E128K	E	+	1	0	DSE	116686681	1.000000	0.71417	0.981000	0.43875	0.239000	0.25481	0.294000	0.19047	-0.531000	0.06340	-1.646000	0.00762	GAA	DSE	-	NULL	ENSG00000111817		0.567	DSE-203	KNOWN	basic	protein_coding	DSE	HGNC	protein_coding		50	0.00	0	G	NM_013352		116579988	116579988	+1	no_errors	ENST00000540275	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.979	A
E2F5	1875	genome.wustl.edu	37	8	86127297	86127297	+	IGR	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:86127297G>C	ENST00000416274.2	+	0	1728				C8orf59_ENST00000518091.1_Intron|C8orf59_ENST00000458398.2_Intron|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000421308.2_Intron|C8orf59_ENST00000524353.1_Intron|C8orf59_ENST00000431163.2_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000417663.2_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATTAATCTATGATCTCATAAC	0.244																																						dbGAP											0													14.0	13.0	13.0					8																	86127297		1730	3961	5691	-	-	-	SO:0001628	intergenic_variant	0			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127297G>C			E9PBN9|Q16601|Q92756	RNA	SNP	-	NULL	ENST00000416274.2	37	NULL	CCDS47885.1	8																																																																																			E2F5	-	-	ENSG00000133740		0.244	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	27	0.00	0	G	NM_001951		86127297	86127297	+1	no_errors	ENST00000519128	ensembl	human	known	69_37n	rna	26	27.78	10	SNP	0.000	C
EEA1	8411	genome.wustl.edu	37	12	93210085	93210085	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:93210085G>A	ENST00000322349.8	-	15	2084	c.1820C>T	c.(1819-1821)gCa>gTa	p.A607V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	607	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTAAGATGTGCCTTCTGCTC	0.413																																						dbGAP											0													254.0	221.0	232.0					12																	93210085		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1820C>T	12.37:g.93210085G>A	ENSP00000317955:p.Ala607Val		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.A607V	ENST00000322349.8	37	c.1820	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166112	0.78339	.	.	ENSG00000102189	ENST00000322349	T	0.44482	0.92	5.27	4.38	0.52667	.	0.116755	0.37761	N	0.001952	T	0.49184	0.1542	L	0.27053	0.805	0.32326	N	0.561764	D	0.69078	0.997	D	0.75020	0.985	T	0.57785	-0.7751	10	0.35671	T	0.21	.	13.7026	0.62618	0.0747:0.0:0.9253:0.0	.	607	Q15075	EEA1_HUMAN	V	607	ENSP00000317955:A607V	ENSP00000317955:A607V	A	-	2	0	EEA1	91734216	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.617000	0.54181	1.234000	0.43709	0.313000	0.20887	GCA	EEA1	-	NULL	ENSG00000102189		0.413	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	146	0.00	0	G	NM_003566		93210085	93210085	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	missense	100	26.47	36	SNP	1.000	A
EFCAB6	64800	genome.wustl.edu	37	22	44079633	44079633	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:44079633G>A	ENST00000262726.7	-	12	1498	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.I263I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	415	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACAGTGTTGATTATCAGTA	0.353																																						dbGAP											0													256.0	225.0	236.0					22																	44079633		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1245C>T	22.37:g.44079633G>A			A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I415	ENST00000262726.7	37	c.1245	CCDS14049.1	22																																																																																			EFCAB6	-	NULL	ENSG00000186976		0.353	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	129	0.00	0	G	NM_022785		44079633	44079633	-1	no_errors	ENST00000262726	ensembl	human	known	69_37n	silent	121	10.14	14	SNP	0.000	A
EGFLAM	133584	genome.wustl.edu	37	5	38418272	38418272	+	Silent	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:38418272C>A	ENST00000354891.3	+	12	1945	c.1599C>A	c.(1597-1599)ggC>ggA	p.G533G	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Silent_p.G533G|EGFLAM_ENST00000336740.6_Silent_p.G299G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	533	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTTTCAAGGCTGTGTGCAGT	0.542																																					Colon(62;485 1295 3347 17454)	dbGAP											0													96.0	100.0	98.0					5																	38418272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1599C>A	5.37:g.38418272C>A			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.G533	ENST00000354891.3	37	c.1599	CCDS56363.1	5																																																																																			EGFLAM	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000164318		0.542	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	68	0.00	0	C	NM_152403		38418272	38418272	+1	no_errors	ENST00000354891	ensembl	human	known	69_37n	silent	46	30.30	20	SNP	1.000	A
EIF4E2	9470	genome.wustl.edu	37	2	233431864	233431864	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:233431864G>A	ENST00000258416.3	+	6	1278	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	EIF4E2_ENST00000409167.3_Missense_Mutation_p.R157Q|EIF4E2_ENST00000409514.1_Missense_Mutation_p.R202Q|EIF4E2_ENST00000409495.1_Missense_Mutation_p.R202Q|EIF4E2_ENST00000409098.1_Missense_Mutation_p.R202Q|EIF4E2_ENST00000409322.1_Missense_Mutation_p.R157Q|EIF4E2_ENST00000409394.1_Missense_Mutation_p.R157Q	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	202					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACACTTCGGCGAGTGCTTAAC	0.488																																						dbGAP											0													146.0	128.0	134.0					2																	233431864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.605G>A	2.37:g.233431864G>A	ENSP00000258416:p.Arg202Gln		B8ZZJ9|O75349	Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.R202Q	ENST00000258416.3	37	c.605	CCDS2496.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348967	0.82132	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.57130	1.785	0.58432	D	0.999997	D;D;B	0.54047	0.964;0.964;0.159	P;P;B	0.44477	0.451;0.451;0.034	T	0.48536	-0.9027	10	0.62326	D	0.03	-20.9126	17.243	0.87019	0.0:0.0:1.0:0.0	.	157;202;202	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	Q	202;202;202;202;157;157;157;197	ENSP00000258416:R202Q;ENSP00000387336:R202Q;ENSP00000386996:R202Q;ENSP00000386876:R202Q;ENSP00000387328:R157Q;ENSP00000386424:R157Q;ENSP00000386983:R157Q;ENSP00000390904:R197Q	ENSP00000258416:R202Q	R	+	2	0	EIF4E2	233140108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	CGA	EIF4E2	-	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	ENSG00000135930		0.488	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E2	HGNC	protein_coding	OTTHUMT00000257033.2	45	0.00	0	G	NM_004846		233431864	233431864	+1	no_errors	ENST00000258416	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	1.000	A
EIF4G1	1981	genome.wustl.edu	37	3	184039808	184039808	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:184039808G>T	ENST00000346169.2	+	10	1707	c.1436G>T	c.(1435-1437)gGa>gTa	p.G479V	EIF4G1_ENST00000434061.2_Missense_Mutation_p.G283V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G439V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G486V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G315V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G283V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G392V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G315V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G479V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G486V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G439V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G392V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G479V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G486V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	479				G -> R (in Ref. 1; BAA02185). {ECO:0000305}.	cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGAGAAAGGAGGAGAGGAA	0.527																																						dbGAP											0													64.0	65.0	65.0					3																	184039808		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1436G>T	3.37:g.184039808G>T	ENSP00000316879:p.Gly479Val		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.G486V	ENST00000346169.2	37	c.1457	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112974	0.37242	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;0.6;-0.06	5.58	4.7	0.59300	.	0.625276	0.16458	N	0.213525	T	0.68256	0.2981	L	0.43152	1.355	0.54753	D	0.999984	D;D;D;B	0.69078	0.997;0.997;0.997;0.241	D;D;D;B	0.66196	0.942;0.942;0.942;0.172	T	0.61874	-0.6973	10	0.30078	T	0.28	-7.8921	10.8625	0.46835	0.0873:0.0:0.9127:0.0	.	486;479;479;486	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	479;439;392;479;486;486;420;315;486;392;479;479;486;439;315;315;283;283;283	ENSP00000316879:G479V;ENSP00000391935:G439V;ENSP00000376320:G392V;ENSP00000391412:G479V;ENSP00000413159:G486V;ENSP00000371767:G486V;ENSP00000403269:G420V;ENSP00000317600:G315V;ENSP00000338020:G486V;ENSP00000407682:G392V;ENSP00000343450:G479V;ENSP00000323737:G479V;ENSP00000416255:G486V;ENSP00000395974:G439V;ENSP00000398145:G315V;ENSP00000399858:G315V;ENSP00000411826:G283V;ENSP00000399969:G283V;ENSP00000404754:G283V	ENSP00000323737:G479V	G	+	2	0	EIF4G1	185522502	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.841000	0.39240	2.626000	0.88956	0.563000	0.77884	GGA	EIF4G1	-	NULL	ENSG00000114867		0.527	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	28	0.00	0	G	NM_182917		184039808	184039808	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	T
EMC7	56851	genome.wustl.edu	37	15	34382543	34382543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:34382543C>T	ENST00000256545.4	-	3	578	c.470G>A	c.(469-471)tGg>tAg	p.W157*		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	157						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AAAGTCTGTCCAGCCCCACGA	0.393																																						dbGAP											0													106.0	99.0	101.0					15																	34382543		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.470G>A	15.37:g.34382543C>T	ENSP00000256545:p.Trp157*		B2RC00|Q96ED5	Nonsense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold	p.W157*	ENST00000256545.4	37	c.470	CCDS10032.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.324874|6.324874	0.97476|0.97476	.|.	.|.	ENSG00000134153|ENSG00000134153	ENST00000528949|ENST00000256545	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.75488|.	0.3856|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71384|.	-0.4609|.	3|.	.|0.35671	.|T	.|0.21	-7.0514|-7.0514	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	93|157	.|.	.|ENSP00000256545:W157X	G|W	-|-	1|2	0|0	C15orf24|C15orf24	32169835|32169835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GGA|TGG	EMC7	-	pfam_DUF2012	ENSG00000134153		0.393	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EMC7	HGNC	protein_coding	OTTHUMT00000251519.1	69	0.00	0	C	NM_020154		34382543	34382543	-1	no_errors	ENST00000256545	ensembl	human	known	69_37n	nonsense	56	28.75	23	SNP	1.000	T
EML6	400954	genome.wustl.edu	37	2	55191121	55191121	+	Splice_Site	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:55191121G>A	ENST00000356458.6	+	36	5677		c.e36-1		EML6_ENST00000490828.1_Splice_Site	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CATCAATGTAGAAGCTGTTAA	0.562																																						dbGAP											0													129.0	117.0	120.0					2																	55191121		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.5158-1G>A	2.37:g.55191121G>A			A8MUB5|B6ZDG7	Splice_Site	SNP	-	NULL	ENST00000356458.6	37	c.NULL	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548262	0.45383	.	.	ENSG00000214595	ENST00000356458	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.542	0.99273	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EML6	55044625	1.000000	0.71417	0.998000	0.56505	0.274000	0.26718	9.466000	0.97665	2.932000	0.99384	0.643000	0.83706	.	EML6	-	-	ENSG00000214595		0.562	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	63	0.00	0	G	XM_001725002	Intron	55191121	55191121	+1	no_errors	ENST00000481376	ensembl	human	known	69_37n	splice_site	53	21.74	15	SNP	1.000	A
ENAM	10117	genome.wustl.edu	37	4	71509721	71509721	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:71509721C>G	ENST00000396073.3	+	9	2859	c.2578C>G	c.(2578-2580)Caa>Gaa	p.Q860E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	860					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCATCAGGTCAAAAAGAAGC	0.443																																						dbGAP											0													101.0	99.0	100.0					4																	71509721		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2578C>G	4.37:g.71509721C>G	ENSP00000379383:p.Gln860Glu		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.Q860E	ENST00000396073.3	37	c.2578	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385904	0.61956	.	.	ENSG00000132464	ENST00000396073	T	0.35789	1.29	6.08	6.08	0.98989	.	0.000000	0.56097	D	0.000029	T	0.57519	0.2059	M	0.84326	2.69	0.33307	D	0.565636	P	0.48640	0.913	P	0.54544	0.755	T	0.67894	-0.5552	10	0.39692	T	0.17	-15.591	16.1635	0.81734	0.0:1.0:0.0:0.0	.	860	Q9NRM1	ENAM_HUMAN	E	860	ENSP00000379383:Q860E	ENSP00000379383:Q860E	Q	+	1	0	ENAM	71728585	0.973000	0.33851	0.972000	0.41901	0.980000	0.70556	2.504000	0.45416	2.894000	0.99253	0.655000	0.94253	CAA	ENAM	-	NULL	ENSG00000132464		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	61	0.00	0	C	NM_031889		71509721	71509721	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	missense	47	27.69	18	SNP	0.987	G
ENG	2022	genome.wustl.edu	37	9	130579444	130579444	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:130579444G>A	ENST00000373203.4	-	13	2125	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	RP11-228B15.4_ENST00000425991.1_RNA|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000344849.3_Silent_p.I575I|ENG_ENST00000480266.1_5'UTR	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	575	Ser/Thr-rich.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGTCAGGGCTGATGATGTTCA	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													dbGAP											0													132.0	114.0	120.0					9																	130579444		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1725C>T	9.37:g.130579444G>A			Q14248|Q14926|Q5T9C0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105	p.I575	ENST00000373203.4	37	c.1725	CCDS48029.1	9																																																																																			ENG	-	NULL	ENSG00000106991		0.572	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	55	0.00	0	G			130579444	130579444	-1	no_errors	ENST00000373203	ensembl	human	known	69_37n	silent	28	40.43	19	SNP	0.997	A
EPHX2	2053	genome.wustl.edu	37	8	27373304	27373304	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:27373304G>A	ENST00000521400.1	+	7	1235	c.805G>A	c.(805-807)Gag>Aag	p.E269K	EPHX2_ENST00000518379.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.E216K|EPHX2_ENST00000521780.1_Missense_Mutation_p.E203K|EPHX2_ENST00000517536.1_Missense_Mutation_p.E86K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	269	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TGGATTTCCCGAGAGTTGGTA	0.597											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													70.0	64.0	66.0					8																	27373304		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.805G>A	8.37:g.27373304G>A	ENSP00000430269:p.Glu269Lys	793	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.E269K	ENST00000521400.1	37	c.805	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027481	0.93518	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449	T;T;T;T	0.04015	3.73;3.73;3.73;3.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.00241	-1.1886	10	0.87932	D	0	-11.2938	17.1535	0.86783	0.0:0.0:1.0:0.0	.	269;269	E7ETW9;P34913	.;HYES_HUMAN	K	269;86;203;216;273	ENSP00000430269:E269K;ENSP00000428875:E86K;ENSP00000430302:E203K;ENSP00000369843:E216K	ENSP00000369843:E216K	E	+	1	0	EPHX2	27429221	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.202000	0.77856	2.648000	0.89879	0.561000	0.74099	GAG	EPHX2	-	prints_Epox_hydrolase-like	ENSG00000120915		0.597	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	71	0.00	0	G			27373304	27373304	+1	no_errors	ENST00000521400	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	1.000	A
EPRS	2058	genome.wustl.edu	37	1	220170425	220170425	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:220170425G>A	ENST00000366923.3	-	18	2710	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	814	3 X 57 AA approximate repeats.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGAGGAATTAGAAGAAATATT	0.393																																						dbGAP											0													99.0	100.0	99.0					1																	220170425		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2441C>T	1.37:g.220170425G>A	ENSP00000355890:p.Ser814Phe		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.S814F	ENST00000366923.3	37	c.2441	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398021	0.42512	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.07800	3.16	5.67	1.56	0.23342	.	0.796012	0.12209	N	0.489478	T	0.05273	0.0140	L	0.27053	0.805	0.09310	N	1	B;P;B	0.37038	0.128;0.579;0.241	B;B;B	0.32624	0.03;0.149;0.098	T	0.35871	-0.9771	10	0.59425	D	0.04	-1.016	4.6322	0.12507	0.1339:0.1229:0.6157:0.1275	.	838;821;814	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	F	814;821;838	ENSP00000355890:S814F	ENSP00000355890:S814F	S	-	2	0	EPRS	218237048	0.950000	0.32346	0.000000	0.03702	0.366000	0.29705	3.862000	0.56009	0.032000	0.15435	-0.136000	0.14681	TCT	EPRS	-	NULL	ENSG00000136628		0.393	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	100	0.00	0	G	NM_004446		220170425	220170425	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	104	15.08	19	SNP	0.000	A
ERLIN1	10613	genome.wustl.edu	37	10	101927112	101927112	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:101927112C>G	ENST00000421367.2	-	7	3263	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	ERLIN1_ENST00000407654.3_Missense_Mutation_p.E186Q	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	184					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CACATTAACTCAAAATTTCTT	0.338																																						dbGAP											0													102.0	101.0	101.0					10																	101927112		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.556G>C	10.37:g.101927112C>G	ENSP00000410964:p.Glu186Gln		B0QZ42|Q53HV0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E186Q	ENST00000421367.2	37	c.556	CCDS7487.2	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450306	0.84101	.	.	ENSG00000107566	ENST00000421367;ENST00000407654;ENST00000370410;ENST00000370408	D;D;D	0.93547	-3.24;-3.24;-3.24	4.9	4.9	0.64082	.	0.000000	0.85682	U	0.000000	D	0.96809	0.8958	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.95631	0.8689	10	0.24483	T	0.36	-5.5274	16.3875	0.83521	0.0:1.0:0.0:0.0	.	184;186	O75477;D3DR65	ERLN1_HUMAN;.	Q	186;186;102;186	ENSP00000410964:E186Q;ENSP00000384900:E186Q;ENSP00000359436:E186Q	ENSP00000359436:E186Q	E	-	1	0	ERLIN1	101917102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.628000	0.83189	2.657000	0.90304	0.591000	0.81541	GAG	ERLIN1	-	pfam_Band_7,smart_Band_7	ENSG00000107566		0.338	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN1	HGNC	protein_coding	OTTHUMT00000049840.2	129	0.00	0	C	NM_006459		101927112	101927112	-1	no_errors	ENST00000407654	ensembl	human	known	69_37n	missense	105	21.05	28	SNP	1.000	G
ERMP1	79956	genome.wustl.edu	37	9	5787227	5787227	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:5787227G>C	ENST00000339450.5	-	15	2721	c.2632C>G	c.(2632-2634)Caa>Gaa	p.Q878E	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	878						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GCATCCAGTTGAGGGGATCTC	0.473																																						dbGAP											0													81.0	83.0	82.0					9																	5787227		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2632C>G	9.37:g.5787227G>C	ENSP00000340427:p.Gln878Glu		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.Q878E	ENST00000339450.5	37	c.2632	CCDS34983.1	9	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143058	0.21205	.	.	ENSG00000099219	ENST00000339450	T	0.37584	1.19	5.62	4.69	0.59074	.	0.381566	0.33127	N	0.005245	T	0.14830	0.0358	N	0.03608	-0.345	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.12344	-1.0551	10	0.02654	T	1	-0.0043	12.7688	0.57408	0.0845:0.0:0.9155:0.0	.	878	Q7Z2K6	ERMP1_HUMAN	E	878	ENSP00000340427:Q878E	ENSP00000340427:Q878E	Q	-	1	0	ERMP1	5777227	1.000000	0.71417	0.588000	0.28705	0.273000	0.26683	4.541000	0.60670	1.297000	0.44761	0.557000	0.71058	CAA	ERMP1	-	NULL	ENSG00000099219		0.473	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1	43	0.00	0	G	NM_024896		5787227	5787227	-1	no_errors	ENST00000339450	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	1.000	C
ETS2	2114	genome.wustl.edu	37	21	40191444	40191444	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:40191444G>A	ENST00000360214.3	+	9	1289	c.829G>A	c.(829-831)Gac>Aac	p.D277N	ETS2_ENST00000360938.3_Missense_Mutation_p.D277N	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	277					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CAAAGACCACGACTCCCCTGA	0.552																																						dbGAP											0													77.0	69.0	72.0					21																	40191444		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.829G>A	21.37:g.40191444G>A	ENSP00000353344:p.Asp277Asn		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.D277N	ENST00000360214.3	37	c.829	CCDS13659.1	21	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090517	0.76756	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.14391	2.51;2.51	5.9	5.9	0.94986	.	0.338285	0.33309	N	0.005046	T	0.28300	0.0699	M	0.65498	2.005	0.51012	D	0.999907	D	0.63880	0.993	P	0.50136	0.632	T	0.00335	-1.1808	10	0.45353	T	0.12	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	277	P15036	ETS2_HUMAN	N	277	ENSP00000353344:D277N;ENSP00000354194:D277N	ENSP00000353344:D277N	D	+	1	0	ETS2	39113314	1.000000	0.71417	0.051000	0.19133	0.052000	0.14988	5.778000	0.68940	2.788000	0.95919	0.650000	0.86243	GAC	ETS2	-	pirsf_Transforming_factor_C-ets	ENSG00000157557		0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS2	HGNC	protein_coding	OTTHUMT00000207544.1	40	0.00	0	G			40191444	40191444	+1	no_errors	ENST00000360214	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.984	A
ETV2	2116	genome.wustl.edu	37	19	36135560	36135560	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:36135560C>T	ENST00000403402.1	+	6	1141	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	ETV2_ENST00000402764.2_Missense_Mutation_p.R279W|ETV2_ENST00000479824.1_Missense_Mutation_p.R186W|ETV2_ENST00000379026.2_Missense_Mutation_p.R307W|ETV2_ENST00000379023.4_Missense_Mutation_p.R92W			O00321	ETV2_HUMAN	ets variant 2	279					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTAGGTGGCTCGGCTGTGGGG	0.677																																						dbGAP											0													18.0	19.0	19.0					19																	36135560		2195	4279	6474	-	-	-	SO:0001583	missense	0			AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.835C>T	19.37:g.36135560C>T	ENSP00000385369:p.Arg279Trp		A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R279W	ENST00000403402.1	37	c.835	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640658	0.67244	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379023;ENST00000403402	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.51	3.48	0.39840	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.327077	0.24798	N	0.035503	T	0.54208	0.1844	M	0.80183	2.485	0.44890	D	0.997903	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.994;1.0;0.995	T	0.57888	-0.7733	10	0.87932	D	0	.	9.8589	0.41103	0.3724:0.6276:0.0:0.0	.	92;278;307;279	Q3KNT2;O00321;A6NFN5;B9EIN1	.;ETV2_HUMAN;.;.	W	307;279;92;279	ENSP00000368312:R307W;ENSP00000384524:R279W;ENSP00000368309:R92W;ENSP00000385369:R279W	ENSP00000368309:R92W	R	+	1	2	ETV2	40827400	0.008000	0.16893	0.998000	0.56505	0.698000	0.40448	0.055000	0.14229	1.127000	0.42034	-0.302000	0.09304	CGG	ETV2	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000105672		0.677	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	HGNC	protein_coding	OTTHUMT00000318848.2	17	0.00	0	C	XM_209182		36135560	36135560	+1	no_errors	ENST00000402764	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.894	T
ETV5	2119	genome.wustl.edu	37	3	185823642	185823642	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:185823642C>G	ENST00000306376.5	-	2	262	c.16G>C	c.(16-18)Gat>Cat	p.D6H	DGKG_ENST00000447054.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.D48H|ETV5_ENST00000434744.1_Missense_Mutation_p.D6H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	6					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACTTGCTGATCATAAAACCCG	0.453			T	"""TMPRSS2, SCL45A3"""	Prostate																																	dbGAP		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													88.0	84.0	85.0					3																	185823642		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.16G>C	3.37:g.185823642C>G	ENSP00000306894:p.Asp6His		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.D48H	ENST00000306376.5	37	c.142	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491195	0.84962	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.58	5.58	0.84498	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67476	-0.5661	10	0.87932	D	0	.	16.5351	0.84371	0.0:1.0:0.0:0.0	.	6;48	P41161;B7Z7D7	ETV5_HUMAN;.	H	6;6;48;6;6;6;6	ENSP00000306894:D6H;ENSP00000413755:D6H;ENSP00000441737:D48H;ENSP00000389707:D6H;ENSP00000412171:D6H;ENSP00000405157:D6H;ENSP00000388737:D6H	ENSP00000306894:D6H	D	-	1	0	ETV5	187306336	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.190000	0.65104	2.647000	0.89833	0.456000	0.33151	GAT	ETV5	-	pfam_ETS_PEA3_N	ENSG00000244405		0.453	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	90	0.00	0	C	NM_004454		185823642	185823642	-1	no_errors	ENST00000537818	ensembl	human	known	69_37n	missense	51	28.77	21	SNP	1.000	G
EXOC4	60412	genome.wustl.edu	37	7	133002139	133002139	+	Nonsense_Mutation	SNP	C	C	G	rs375355028		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:133002139C>G	ENST00000253861.4	+	5	787	c.758C>G	c.(757-759)tCa>tGa	p.S253*	EXOC4_ENST00000393161.2_Nonsense_Mutation_p.S253*|EXOC4_ENST00000539845.1_Nonsense_Mutation_p.S152*	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	253					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCTGGAAGCTCAAGTGGTAAG	0.428																																						dbGAP											0													166.0	156.0	159.0					7																	133002139		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.758C>G	7.37:g.133002139C>G	ENSP00000253861:p.Ser253*		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Nonsense_Mutation	SNP	pfam_Sec8_exocyst	p.S253*	ENST00000253861.4	37	c.758	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.172741	0.98688	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.4	5.4	0.78164	.	0.270105	0.36854	N	0.002378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	16.7445	0.85468	0.0:1.0:0.0:0.0	.	.	.	.	X	253;253;152	.	ENSP00000253861:S253X	S	+	2	0	EXOC4	132652679	0.996000	0.38824	0.995000	0.50966	0.964000	0.63967	4.317000	0.59184	2.567000	0.86603	0.558000	0.71614	TCA	EXOC4	-	NULL	ENSG00000131558		0.428	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	120	0.00	0	C	NM_021807		133002139	133002139	+1	no_errors	ENST00000253861	ensembl	human	known	69_37n	nonsense	69	31.68	32	SNP	0.998	G
EXOC7	23265	genome.wustl.edu	37	17	74084200	74084200	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:74084200C>T	ENST00000335146.7	-	12	1509	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	EXOC7_ENST00000589210.1_Missense_Mutation_p.D435N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D458N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D404N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D394N|EXOC7_ENST00000607838.1_Missense_Mutation_p.D458N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D427N			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	486					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTGTCCGGGTCATTCTGTGGA	0.627																																						dbGAP											0													120.0	103.0	109.0					17																	74084200		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1456G>A	17.37:g.74084200C>T	ENSP00000334100:p.Asp486Asn		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.D486N	ENST00000335146.7	37	c.1456	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664400	0.67700	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.86	4.86	0.63082	Cullin repeat-like-containing domain (1);	0.100671	0.64402	D	0.000003	T	0.56775	0.2008	L	0.45698	1.435	0.80722	D	1	B;B;B;B;B;B;B	0.19445	0.005;0.007;0.012;0.002;0.009;0.036;0.012	B;B;B;B;B;B;B	0.27715	0.039;0.034;0.062;0.021;0.058;0.082;0.062	T	0.56866	-0.7908	9	0.49607	T	0.09	-23.6027	12.4536	0.55691	0.0:0.9188:0.0:0.0811	.	427;458;394;394;486;404;435	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	N	404;324;458;486;435;394;427	.	ENSP00000333806:D404N	D	-	1	0	EXOC7	71595795	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	5.789000	0.69029	2.226000	0.72624	0.650000	0.86243	GAC	EXOC7	-	pfam_Exo70,superfamily_Cullin_repeat-like_dom	ENSG00000182473		0.627	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	30	0.00	0	C	NM_015219		74084200	74084200	-1	no_errors	ENST00000335146	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	T
EYA4	2070	genome.wustl.edu	37	6	133802655	133802655	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:133802655G>C	ENST00000367895.5	+	12	1489	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	EYA4_ENST00000355167.3_Missense_Mutation_p.R342T|EYA4_ENST00000531901.1_Missense_Mutation_p.R348T|EYA4_ENST00000452339.2_Missense_Mutation_p.R288T|EYA4_ENST00000430974.2_Missense_Mutation_p.R294T|EYA4_ENST00000355286.6_Missense_Mutation_p.R319T|EYA4_ENST00000525849.1_Missense_Mutation_p.R319T|EYA4_ENST00000431403.2_Missense_Mutation_p.R342T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	342					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTTGATGAGAGAACCTGTAGG	0.458																																					Melanoma(57;398 1237 3528 4702 7415)	dbGAP											0													130.0	137.0	134.0					6																	133802655		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1025G>C	6.37:g.133802655G>C	ENSP00000356870:p.Arg342Thr		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.R342T	ENST00000367895.5	37	c.1025	CCDS5165.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007467	0.75046	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;D;D;D;D;D;D;D	0.81908	-1.34;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	L	0.54323	1.7	0.80722	D	1	B;B;P;P;B;B	0.35272	0.013;0.026;0.493;0.493;0.026;0.013	B;B;B;B;B;B	0.31101	0.062;0.041;0.124;0.079;0.041;0.025	T	0.75119	-0.3430	10	0.40728	T	0.16	-6.766	19.7597	0.96309	0.0:0.0:1.0:0.0	.	348;294;288;319;342;342	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	T	288;294;342;342;319;348;319;342	ENSP00000395916:R288T;ENSP00000388670:R294T;ENSP00000356870:R342T;ENSP00000347294:R342T;ENSP00000347434:R319T;ENSP00000432770:R348T;ENSP00000433219:R319T;ENSP00000404558:R342T	ENSP00000347294:R342T	R	+	2	0	EYA4	133844348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.578000	0.98200	2.665000	0.90641	0.655000	0.94253	AGA	EYA4	-	NULL	ENSG00000112319		0.458	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	65	0.00	0	G	NM_004100		133802655	133802655	+1	no_errors	ENST00000355167	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	C
FAF1	11124	genome.wustl.edu	37	1	50956274	50956274	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:50956274C>G	ENST00000396153.2	-	17	2090	c.1639G>C	c.(1639-1641)Gaa>Caa	p.E547Q	FAF1_ENST00000545823.1_Missense_Mutation_p.E305Q|FAF1_ENST00000371778.4_Missense_Mutation_p.E547Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	547					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CGTTCCTCTTCTTGTTCTTTG	0.418																																						dbGAP											0													239.0	208.0	218.0					1																	50956274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1639G>C	1.37:g.50956274C>G	ENSP00000379457:p.Glu547Gln		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E547Q	ENST00000396153.2	37	c.1639	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615894	0.87359	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.78	5.78	0.91487	.	0.091527	0.85682	D	0.000000	T	0.77398	0.4124	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.71745	-0.4500	9	0.26408	T	0.33	-12.8301	19.5978	0.95548	0.0:1.0:0.0:0.0	.	305;547	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	Q	547;547;305;387;395	.	ENSP00000360843:E547Q	E	-	1	0	FAF1	50728862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.870000	0.69620	2.733000	0.93635	0.655000	0.94253	GAA	FAF1	-	NULL	ENSG00000185104		0.418	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	91	0.00	0	C	NM_007051		50956274	50956274	-1	no_errors	ENST00000371778	ensembl	human	known	69_37n	missense	76	36.13	43	SNP	1.000	G
FAM13A	10144	genome.wustl.edu	37	4	89668139	89668139	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:89668139C>G	ENST00000264344.5	-	19	2617	c.2410G>C	c.(2410-2412)Gag>Cag	p.E804Q	FAM13A_ENST00000511976.1_Missense_Mutation_p.E390Q|FAM13A_ENST00000395002.2_Missense_Mutation_p.E478Q|FAM13A_ENST00000503556.1_Missense_Mutation_p.E464Q|FAM13A_ENST00000508369.1_Missense_Mutation_p.E478Q|FAM13A_ENST00000513837.1_Missense_Mutation_p.E450Q	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	804					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCCACTTTCTCATTAGCAATC	0.378																																						dbGAP											0													105.0	102.0	103.0					4																	89668139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2410G>C	4.37:g.89668139C>G	ENSP00000264344:p.Glu804Gln		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E804Q	ENST00000264344.5	37	c.2410	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.266414	0.95399	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.80824	-1.21;0.17;-0.53;-1.42;-0.52;-0.51	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.998;0.998;0.999	D	0.90808	0.4699	10	0.62326	D	0.03	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	450;390;804;478;464;478	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	Q	478;804;464;390;478;450	ENSP00000378450:E478Q;ENSP00000264344:E804Q;ENSP00000427189:E464Q;ENSP00000421914:E390Q;ENSP00000421562:E478Q;ENSP00000423252:E450Q	ENSP00000264344:E804Q	E	-	1	0	FAM13A	89887162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.640000	0.83355	2.941000	0.99782	0.655000	0.94253	GAG	FAM13A	-	NULL	ENSG00000138640		0.378	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	114	0.00	0	C			89668139	89668139	-1	no_errors	ENST00000264344	ensembl	human	known	69_37n	missense	53	44.21	42	SNP	1.000	G
FAM13B	51306	genome.wustl.edu	37	5	137290027	137290027	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:137290027C>T	ENST00000033079.3	-	14	1931	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	FAM13B_ENST00000425075.2_Missense_Mutation_p.E398K|FAM13B_ENST00000420893.2_Missense_Mutation_p.E494K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	494					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TCTCCAGACTCAGAGTCCTCC	0.443																																						dbGAP											0													57.0	56.0	57.0					5																	137290027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1480G>A	5.37:g.137290027C>T	ENSP00000033079:p.Glu494Lys		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E494K	ENST00000033079.3	37	c.1480	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.352767	0.95830	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95554	-3.74;1.5;-3.74	5.69	5.69	0.88448	.	0.103274	0.64402	D	0.000004	D	0.97228	0.9094	M	0.61703	1.905	0.58432	D	0.999998	D;P;D	0.89917	1.0;0.72;1.0	D;B;D	0.91635	0.999;0.35;0.997	D	0.96712	0.9526	10	0.42905	T	0.14	-3.3931	18.8013	0.92018	0.0:1.0:0.0:0.0	.	398;494;494	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	K	494;398;494	ENSP00000033079:E494K;ENSP00000394669:E398K;ENSP00000388521:E494K	ENSP00000033079:E494K	E	-	1	0	FAM13B	137317926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.899000	0.75682	2.682000	0.91365	0.585000	0.79938	GAG	FAM13B	-	NULL	ENSG00000031003		0.443	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	30	0.00	0	C			137290027	137290027	-1	no_errors	ENST00000033079	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	T
FAM13C	220965	genome.wustl.edu	37	10	61122179	61122179	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:61122179G>A	ENST00000373868.2	-	1	129	c.42C>T	c.(40-42)ttC>ttT	p.F14F	FAM13C_ENST00000419214.2_Silent_p.F14F|FAM13C_ENST00000277705.6_Silent_p.F14F|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000422313.2_Silent_p.F14F|FAM13C_ENST00000442566.3_Silent_p.F14F|FAM13C_ENST00000435852.2_Silent_p.F14F	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	14										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGTGCTGCTGAAGGAATTAT	0.473																																						dbGAP											0													115.0	100.0	105.0					10																	61122179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.42C>T	10.37:g.61122179G>A			B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	NULL	p.F14	ENST00000373868.2	37	c.42	CCDS7255.1	10																																																																																			FAM13C	-	NULL	ENSG00000148541		0.473	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	80	0.00	0	G			61122179	61122179	-1	no_errors	ENST00000373868	ensembl	human	known	69_37n	silent	49	29.58	21	SNP	1.000	A
FAM160B2	64760	genome.wustl.edu	37	8	21957369	21957369	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:21957369C>T	ENST00000289921.7	+	10	1352	c.1306C>T	c.(1306-1308)Cat>Tat	p.H436Y		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	436										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCTGTATGCTCATCTCATCGG	0.627																																						dbGAP											0													36.0	42.0	40.0					8																	21957369		1975	4156	6131	-	-	-	SO:0001583	missense	0			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1306C>T	8.37:g.21957369C>T	ENSP00000289921:p.His436Tyr		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.H436Y	ENST00000289921.7	37	c.1306	CCDS6021.2	8	.	.	.	.	.	.	.	.	.	.	.	12.29	1.894098	0.33442	.	.	ENSG00000158863	ENST00000289921	T	0.29917	1.55	5.64	4.77	0.60923	.	0.293780	0.38959	N	0.001508	T	0.32704	0.0838	M	0.63428	1.95	0.39089	D	0.961054	B	0.06786	0.001	B	0.12837	0.008	T	0.20405	-1.0276	10	0.66056	D	0.02	-18.3019	12.1572	0.54083	0.0:0.9175:0.0:0.0825	.	436	Q86V87	F16B2_HUMAN	Y	436	ENSP00000289921:H436Y	ENSP00000289921:H436Y	H	+	1	0	FAM160B2	22013314	0.115000	0.22152	0.857000	0.33713	0.080000	0.17528	1.237000	0.32695	1.394000	0.46624	0.655000	0.94253	CAT	FAM160B2	-	pfam_RetinoicA-induced_16-like	ENSG00000158863		0.627	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	17	0.00	0	C			21957369	21957369	+1	no_errors	ENST00000289921	ensembl	human	known	69_37n	missense	14	34.78	8	SNP	0.998	T
FAM186A	121006	genome.wustl.edu	37	12	50745916	50745916	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:50745916G>C	ENST00000327337.5	-	4	4698	c.4699C>G	c.(4699-4701)Ctc>Gtc	p.L1567V	FAM186A_ENST00000543111.1_Missense_Mutation_p.L1567V|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1567																	TGAGGGGTGAGAGGGATCTCC	0.662																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													11.0	10.0	11.0					12																	50745916		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4699C>G	12.37:g.50745916G>C	ENSP00000329995:p.Leu1567Val			Missense_Mutation	SNP	NULL	p.L1567V	ENST00000327337.5	37	c.4699	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	g	10.86	1.469047	0.26335	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04758	3.56;3.56	3.23	1.36	0.22044	.	.	.	.	.	T	0.06872	0.0175	N	0.14661	0.345	0.09310	N	0.999997	D;B	0.76494	0.999;0.01	D;B	0.75484	0.986;0.011	T	0.40421	-0.9564	9	0.13853	T	0.58	.	6.8352	0.23933	0.1071:0.1786:0.7143:0.0	.	1567;1567	F5GYN0;A6NE01	.;F186A_HUMAN	V	1567	ENSP00000441337:L1567V;ENSP00000329995:L1567V	ENSP00000329995:L1567V	L	-	1	0	FAM186A	49032183	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	-0.114000	0.10757	0.384000	0.24942	-0.326000	0.08463	CTC	FAM186A	-	NULL	ENSG00000185958		0.662	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	112	0.00	0	G	XM_001718353		50745916	50745916	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	118	24.36	38	SNP	0.003	C
TVP23C	201158	genome.wustl.edu	37	17	15406381	15406381	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:15406381C>T	ENST00000225576.3	-	6	723	c.628G>A	c.(628-630)Gat>Aat	p.D210N	TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	210						integral component of membrane (GO:0016021)											AGAGCTCGATCCGTGATCCTC	0.582																																						dbGAP											0													46.0	47.0	47.0					17																	15406381		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.628G>A	17.37:g.15406381C>T	ENSP00000225576:p.Asp210Asn		Q3LIC7	Missense_Mutation	SNP	pfam_DUF846_euk	p.D210N	ENST00000225576.3	37	c.628	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786718	0.31593	.	.	ENSG00000175106	ENST00000225576	T	0.24538	1.85	3.23	-1.97	0.07503	.	.	.	.	.	T	0.10723	0.0262	N	0.19112	0.55	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.34950	-0.9808	9	0.15952	T	0.53	.	0.2833	0.00248	0.2002:0.2734:0.2024:0.324	.	210	Q96ET8	F18B2_HUMAN	N	210	ENSP00000225576:D210N	ENSP00000225576:D210N	D	-	1	0	FAM18B2	15347106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.361000	0.08125	-0.535000	0.04281	GAT	FAM18B2	-	NULL	ENSG00000175106		0.582	TVP23C-001	KNOWN	basic|CCDS	protein_coding	FAM18B2	HGNC	protein_coding	OTTHUMT00000130705.2	48	0.00	0	C	NM_145301		15406381	15406381	-1	no_errors	ENST00000225576	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	0.000	T
CCSER2	54462	genome.wustl.edu	37	10	86185546	86185546	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:86185546G>A	ENST00000224756.8	+	5	1950	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Missense_Mutation_p.E589K|CCSER2_ENST00000543283.1_Missense_Mutation_p.E16K	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	589					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GCAGCCTCAGGAAGGTTTTTG	0.468																																						dbGAP											0													106.0	94.0	98.0					10																	86185546		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1765G>A	10.37:g.86185546G>A	ENSP00000224756:p.Glu589Lys		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.E589K	ENST00000224756.8	37	c.1765	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532199	0.64972	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.26373	2.04;2.09;1.74	6.07	6.07	0.98685	.	0.078422	0.53938	D	0.000044	T	0.30510	0.0767	L	0.44542	1.39	0.36256	D	0.854215	P;P	0.51791	0.948;0.59	P;B	0.47941	0.562;0.275	T	0.24048	-1.0171	10	0.72032	D	0.01	-14.8629	13.689	0.62533	0.0:0.1544:0.8456:0.0	.	589;589	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	K	589;589;16	ENSP00000224756:E589K;ENSP00000361160:E589K;ENSP00000439944:E16K	ENSP00000224756:E589K	E	+	1	0	FAM190B	86175526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.439000	0.59968	2.890000	0.99128	0.650000	0.86243	GAA	FAM190B	-	NULL	ENSG00000107771		0.468	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	57	0.00	0	G	NM_018999		86185546	86185546	+1	no_errors	ENST00000372088	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	A
FAM200A	221786	genome.wustl.edu	37	7	99144807	99144807	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:99144807C>G	ENST00000449309.1	-	2	1603	c.1224G>C	c.(1222-1224)gaG>gaC	p.E408D		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	408						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						taataatgttctcttcgatgt	0.323																																						dbGAP											0													18.0	18.0	18.0					7																	99144807		1531	2691	4222	-	-	-	SO:0001583	missense	0				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1224G>C	7.37:g.99144807C>G	ENSP00000411372:p.Glu408Asp		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.E408D	ENST00000449309.1	37	c.1224	CCDS5668.1	7	.	.	.	.	.	.	.	.	.	.	C	8.689	0.907080	0.17833	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.22539	1.95;1.95	1.93	-0.426	0.12314	.	0.286793	0.21598	N	0.071995	T	0.11537	0.0281	L	0.31371	0.925	0.20074	N	0.999931	B	0.21225	0.053	B	0.22601	0.04	T	0.21449	-1.0245	10	0.28530	T	0.3	.	4.3293	0.11055	0.0:0.5139:0.0:0.4861	.	408	Q8TCP9	F200A_HUMAN	D	408	ENSP00000411372:E408D;ENSP00000386191:E408D	ENSP00000386191:E408D	E	-	3	2	FAM200A	98982743	0.990000	0.36364	0.759000	0.31340	0.935000	0.57460	0.180000	0.16860	-0.131000	0.11578	-0.373000	0.07131	GAG	FAM200A	-	NULL	ENSG00000221909		0.323	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM200A	HGNC	protein_coding	OTTHUMT00000345467.1	30	0.00	0	C	NM_145111		99144807	99144807	-1	no_errors	ENST00000449309	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.891	G
FAM200B	285550	genome.wustl.edu	37	4	15690057	15690057	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:15690057G>C	ENST00000422728.2	+	2	2295	c.1457G>C	c.(1456-1458)aGa>aCa	p.R486T	FAM200B_ENST00000504137.1_Intron	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	486							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						atgtttccaagatttttgcag	0.303																																						dbGAP											0													74.0	57.0	62.0					4																	15690057		692	1589	2281	-	-	-	SO:0001583	missense	0			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.1457G>C	4.37:g.15690057G>C	ENSP00000393017:p.Arg486Thr			Missense_Mutation	SNP	superfamily_RNaseH-like_dom,superfamily_PAH	p.R486T	ENST00000422728.2	37	c.1457	CCDS47028.1	4	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864830	0.00547	.	.	ENSG00000237765	ENST00000422728	T	0.30182	1.54	2.68	-0.0959	0.13639	.	.	.	.	.	T	0.10981	0.0268	N	0.03154	-0.405	0.20196	N	0.999927	B	0.09022	0.002	B	0.06405	0.002	T	0.34700	-0.9818	8	.	.	.	.	5.1634	0.15073	0.4446:0.0:0.5554:0.0	.	486	P0CF97	F200B_HUMAN	T	486	ENSP00000393017:R486T	.	R	+	2	0	FAM200B	15299155	0.677000	0.27577	0.899000	0.35326	0.981000	0.71138	0.445000	0.21677	-0.058000	0.13177	-0.300000	0.09419	AGA	FAM200B	-	superfamily_PAH	ENSG00000237765		0.303	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	45	0.00	0	G	NM_001145191		15690057	15690057	+1	no_errors	ENST00000422728	ensembl	human	putative	69_37n	missense	48	17.24	10	SNP	0.906	C
FAM65B	9750	genome.wustl.edu	37	6	24843212	24843212	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:24843212G>C	ENST00000259698.4	-	14	1973	c.1798C>G	c.(1798-1800)Cta>Gta	p.L600V	FAM65B_ENST00000510784.2_Missense_Mutation_p.L584V|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000378023.4_Missense_Mutation_p.L550V|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.L550V|FAM65B_ENST00000538035.1_Missense_Mutation_p.L579V	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	600					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTCCATCTAGAAAGGATCTG	0.463																																						dbGAP											0													152.0	152.0	152.0					6																	24843212		1928	4143	6071	-	-	-	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1798C>G	6.37:g.24843212G>C	ENSP00000259698:p.Leu600Val		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L600V	ENST00000259698.4	37	c.1798	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633923	0.29068	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.5	5.5	0.81552	.	0.284388	0.34750	N	0.003719	T	0.19167	0.0460	M	0.66939	2.045	0.28501	N	0.91404	B;B;B;B	0.31209	0.313;0.119;0.096;0.228	B;B;B;B	0.35278	0.133;0.149;0.081;0.199	T	0.13899	-1.0492	10	0.15952	T	0.53	-4.142	9.2851	0.37753	0.0758:0.1465:0.7778:0.0	.	584;579;550;600	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	V	600;579;550;550;584	ENSP00000259698:L600V;ENSP00000441138:L579V;ENSP00000367262:L550V;ENSP00000438425:L550V;ENSP00000441305:L584V	ENSP00000259698:L600V	L	-	1	2	FAM65B	24951191	0.982000	0.34865	0.050000	0.19076	0.970000	0.65996	1.801000	0.38843	2.573000	0.86826	0.563000	0.77884	CTA	FAM65B	-	NULL	ENSG00000111913		0.463	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	79	0.00	0	G			24843212	24843212	-1	no_errors	ENST00000259698	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	0.377	C
FAM71A	149647	genome.wustl.edu	37	1	212799107	212799107	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:212799107G>C	ENST00000294829.3	+	1	1319	c.888G>C	c.(886-888)ttG>ttC	p.L296F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	296	Ala-rich.					nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		cagGTGCCTTGAGTGTGGCAG	0.617																																						dbGAP											0													20.0	25.0	24.0					1																	212799107		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.888G>C	1.37:g.212799107G>C	ENSP00000294829:p.Leu296Phe		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L296F	ENST00000294829.3	37	c.888	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342127	0.41498	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.04454	3.62	4.49	-1.57	0.08506	.	.	.	.	.	T	0.05318	0.0141	L	0.46157	1.445	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.36962	-0.9726	9	0.35671	T	0.21	-1.4491	10.3613	0.43996	0.0867:0.5565:0.3568:0.0	.	296	Q8IYT1	FA71A_HUMAN	F	296;71	ENSP00000294829:L296F	ENSP00000294829:L296F	L	+	3	2	FAM71A	210865730	0.225000	0.23685	0.000000	0.03702	0.003000	0.03518	0.626000	0.24492	-0.152000	0.11156	-0.211000	0.12701	TTG	FAM71A	-	NULL	ENSG00000162771		0.617	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	25	0.00	0	G	NM_153606		212799107	212799107	+1	no_errors	ENST00000294829	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.000	C
FAM98A	25940	genome.wustl.edu	37	2	33817255	33817255	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:33817255G>T	ENST00000238823.8	-	3	369	c.229C>A	c.(229-231)Ctt>Att	p.L77I	FAM98A_ENST00000403368.1_Missense_Mutation_p.L77I|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	77							poly(A) RNA binding (GO:0044822)	p.L77I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCACCTCAAGCTGGAATTCT	0.383																																						dbGAP											2	Substitution - Missense(2)	endometrium(1)|kidney(1)											146.0	142.0	144.0					2																	33817255		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.229C>A	2.37:g.33817255G>T	ENSP00000238823:p.Leu77Ile		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.L77I	ENST00000238823.8	37	c.229	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.749212	0.96882	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.51325	0.71;0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.68728	2.09	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.65994	-0.6033	10	0.48119	T	0.1	-6.6931	20.6593	0.99626	0.0:0.0:1.0:0.0	.	77	Q8NCA5-2	.	I	77	ENSP00000238823:L77I;ENSP00000384711:L77I	ENSP00000238823:L77I	L	-	1	0	FAM98A	33670759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.885000	0.99019	0.655000	0.94253	CTT	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.383	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	51	0.00	0	G	NM_015475		33817255	33817255	-1	no_errors	ENST00000238823	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80053314	80053314	+	Silent	SNP	C	C	T	rs146398649		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:80053314C>T	ENST00000306749.2	-	3	380	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	54	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ACAGGTCCTTCAGCTTGCCGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16812	0.0		0.001	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)	dbGAP											0													62.0	60.0	61.0					17																	80053314		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.162G>A	17.37:g.80053314C>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L54	ENST00000306749.2	37	c.162	CCDS11801.1	17																																																																																			FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom	ENSG00000169710		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	35	0.00	0	C	NM_004104		80053314	80053314	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.999	T
FBN1	2200	genome.wustl.edu	37	15	48703211	48703211	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:48703211C>T	ENST00000316623.5	-	66	9047	c.8592G>A	c.(8590-8592)atG>atA	p.M2864I	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2864					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTGGATTTTCATCTTCAGAT	0.328																																						dbGAP											0													87.0	85.0	86.0					15																	48703211		2198	4297	6495	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8592G>A	15.37:g.48703211C>T	ENSP00000325527:p.Met2864Ile		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.M2864I	ENST00000316623.5	37	c.8592	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345724	0.61073	.	.	ENSG00000166147	ENST00000316623	T	0.80738	-1.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	L	0.37800	1.135	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.69665	-0.5084	10	0.52906	T	0.07	.	19.7983	0.96495	0.0:1.0:0.0:0.0	.	2864	P35555	FBN1_HUMAN	I	2864	ENSP00000325527:M2864I	ENSP00000325527:M2864I	M	-	3	0	FBN1	46490503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.785000	0.95823	0.650000	0.86243	ATG	FBN1	-	pirsf_Fibrillin	ENSG00000166147		0.328	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	124	0.00	0	C			48703211	48703211	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	113	25.17	38	SNP	1.000	T
FBN2	2201	genome.wustl.edu	37	5	127712538	127712538	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:127712538C>T	ENST00000508053.1	-	20	2832	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	FBN2_ENST00000508989.1_Missense_Mutation_p.E587K|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.E620K			P35556	FBN2_HUMAN	fibrillin 2	620	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTTGTACATTCATCATGATCT	0.433																																						dbGAP											0													212.0	176.0	188.0					5																	127712538		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1858G>A	5.37:g.127712538C>T	ENSP00000424571:p.Glu620Lys		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E620K	ENST00000508053.1	37	c.1858	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.353564	0.95830	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.98849	-5.18;-5.18;-5.18	4.63	4.63	0.57726	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.99375	0.9780	M	0.94021	3.485	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.87578	0.998;0.987	D	0.98567	1.0644	10	0.87932	D	0	.	18.8146	0.92072	0.0:1.0:0.0:0.0	.	587;620	D6RJI3;P35556	.;FBN2_HUMAN	K	620;620;587	ENSP00000262464:E620K;ENSP00000424571:E620K;ENSP00000425596:E587K	ENSP00000262464:E620K	E	-	1	0	FBN2	127740437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GAA	FBN2	-	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000138829		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	46	0.00	0	C	NM_001999		127712538	127712538	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	missense	51	30.14	22	SNP	1.000	T
FBXO21	23014	genome.wustl.edu	37	12	117595778	117595778	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:117595778C>G	ENST00000330622.5	-	10	1437	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	FBXO21_ENST00000427718.2_Missense_Mutation_p.E473Q			O94952	FBX21_HUMAN	F-box protein 21	480					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TTTTTGCGCTCAATGTGCTCT	0.557																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											0													233.0	208.0	217.0					12																	117595778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1438G>C	12.37:g.117595778C>G	ENSP00000328187:p.Glu480Gln		B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.E480Q	ENST00000330622.5	37	c.1438	CCDS9184.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.638296|2.638296	0.47153|0.47153	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840|ENST00000550180	T;T|.	0.44881|.	0.91;0.92|.	5.02|5.02	5.02|5.02	0.67125|0.67125	F-box domain, Skp2-like (1);|.	0.064017|.	0.64402|.	D|.	0.000005|.	T|.	0.46425|.	0.1392|.	N|N	0.08118|0.08118	0|0	0.51767|0.51767	D|D	0.999938|0.999938	B;B;B;B|.	0.32781|.	0.209;0.005;0.384;0.138|.	B;B;B;B|.	0.26517|.	0.031;0.004;0.07;0.033|.	T|.	0.41822|.	-0.9487|.	10|.	0.11485|.	T|.	0.65|.	-19.3434|-19.3434	18.5372|18.5372	0.91014|0.91014	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	329;223;480;473|.	Q8IUQ5;B3KQC8;O94952;O94952-1|.	.;.;FBX21_HUMAN;.|.	Q|S	473;389;329;480;132|356	ENSP00000414468:E473Q;ENSP00000328187:E480Q|.	ENSP00000257563:E389Q|.	E|X	-|-	1|2	0|2	FBXO21|FBXO21	116080161|116080161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.890000|4.890000	0.63178|0.63178	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GAG|TGA	FBXO21	-	superfamily_F-box_dom_cyclin-like	ENSG00000135108		0.557	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	47	0.00	0	C	NM_033624		117595778	117595778	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	missense	52	13.33	8	SNP	1.000	G
FBXO33	254170	genome.wustl.edu	37	14	39871049	39871049	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:39871049C>T	ENST00000298097.7	-	3	1064	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	243					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		AGGATTTCTTCAAACAGTTGC	0.373																																						dbGAP											0													56.0	58.0	57.0					14																	39871049		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.727G>A	14.37:g.39871049C>T	ENSP00000298097:p.Glu243Lys		Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.E243K	ENST00000298097.7	37	c.727	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891742	0.72524	.	.	ENSG00000165355	ENST00000298097	T	0.00940	5.52	6.03	6.03	0.97812	.	0.095698	0.64402	D	0.000001	T	0.02304	0.0071	L	0.29908	0.895	0.80722	D	1	D	0.60575	0.988	P	0.54759	0.76	T	0.74648	-0.3595	9	.	.	.	-32.8732	20.5568	0.99304	0.0:1.0:0.0:0.0	.	243	Q7Z6M2	FBX33_HUMAN	K	243	ENSP00000298097:E243K	.	E	-	1	0	FBXO33	38940800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.407000	0.59754	2.861000	0.98227	0.655000	0.94253	GAA	FBXO33	-	NULL	ENSG00000165355		0.373	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	35	0.00	0	C			39871049	39871049	-1	no_errors	ENST00000298097	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	T
FBXW2	26190	genome.wustl.edu	37	9	123527031	123527031	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:123527031C>T	ENST00000608872.1	-	8	1358	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.D326N	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	391					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GTCCGCAAGTCCATGATGTAC	0.512																																						dbGAP											0													107.0	105.0	105.0					9																	123527031		1953	4155	6108	-	-	-	SO:0001583	missense	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1171G>A	9.37:g.123527031C>T	ENSP00000476369:p.Asp391Asn		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D391N	ENST00000608872.1	37	c.1171	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833407	0.91036	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.21191	2.02;2.02	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	L	0.47716	1.5	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.98	D;D;D	0.77557	0.99;0.977;0.977	T	0.02743	-1.1116	10	0.25751	T	0.34	-7.548	16.037	0.80638	0.0:1.0:0.0:0.0	.	326;391;391	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	N	391;326;391	ENSP00000363036:D391N;ENSP00000341161:D326N	ENSP00000341161:D326N	D	-	1	0	FBXW2	122566852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.756000	0.85195	2.447000	0.82792	0.563000	0.77884	GAC	FBXW2	-	superfamily_WD40_repeat_dom	ENSG00000119402		0.512	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	38	0.00	0	C			123527031	123527031	-1	no_errors	ENST00000373926	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	1.000	T
FBXW2	26190	genome.wustl.edu	37	9	123535049	123535049	+	Missense_Mutation	SNP	C	C	T	rs184049937		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:123535049C>T	ENST00000608872.1	-	6	1076	c.889G>A	c.(889-891)Gac>Aac	p.D297N	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Missense_Mutation_p.D232N	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	297					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TCATATTTGTCTGCACTTAAG	0.368																																						dbGAP											0													74.0	66.0	69.0					9																	123535049		1843	4091	5934	-	-	-	SO:0001583	missense	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.889G>A	9.37:g.123535049C>T	ENSP00000476369:p.Asp297Asn		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D297N	ENST00000608872.1	37	c.889	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235413	0.58886	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.18502	2.21;2.21;2.21	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.041764	0.85682	D	0.000000	T	0.41834	0.1176	M	0.75085	2.285	0.80722	D	1	P;D;D	0.63880	0.526;0.993;0.993	B;D;D	0.68192	0.36;0.956;0.956	T	0.02837	-1.1104	10	0.27082	T	0.32	-4.1029	17.8321	0.88686	0.0:1.0:0.0:0.0	.	232;297;297	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	N	297;232;297;168	ENSP00000363036:D297N;ENSP00000341161:D232N;ENSP00000398662:D168N	ENSP00000341161:D232N	D	-	1	0	FBXW2	122574870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.416000	0.80143	2.881000	0.98747	0.650000	0.86243	GAC	FBXW2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000119402		0.368	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	47	0.00	0	C			123535049	123535049	-1	no_errors	ENST00000373926	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	T
FBXW4	6468	genome.wustl.edu	37	10	103384621	103384621	+	Intron	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:103384621G>C	ENST00000331272.7	-	6	1389				RNU6-1165P_ENST00000410119.1_RNA|FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4						cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ACCTGTGGTGGAAATGGCTAA	0.522																																						dbGAP											0													37.0	39.0	38.0					10																	103384621		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.771-54C>G	10.37:g.103384621G>C			Q5SVS1|Q96IM6	RNA	SNP	-	NULL	ENST00000331272.7	37	NULL	CCDS31271.1	10																																																																																			FBXW4	-	-	ENSG00000107829		0.522	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	29	0.00	0	G	NM_022039		103384621	103384621	-1	no_errors	ENST00000470093	ensembl	human	known	69_37n	rna	19	36.67	11	SNP	0.047	C
FCRL5	83416	genome.wustl.edu	37	1	157509116	157509116	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:157509116C>T	ENST00000361835.3	-	7	1319	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	FCRL5_ENST00000368191.3_Missense_Mutation_p.E303K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E388K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E388K|FCRL5_ENST00000356953.4_Missense_Mutation_p.E388K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	388	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATCAGGTCCTCAGGAGAGCTG	0.483																																						dbGAP											0													66.0	67.0	67.0					1																	157509116		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1162G>A	1.37:g.157509116C>T	ENSP00000354691:p.Glu388Lys		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E388K	ENST00000361835.3	37	c.1162	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	0.810	-0.752209	0.03041	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	3.04	-3.7	0.04437	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.675380	0.00659	N	0.000592	T	0.00637	0.0021	N	0.16790	0.44	0.09310	N	1	P;B;B;P;B;P	0.38565	0.637;0.056;0.056;0.507;0.014;0.507	B;B;B;B;B;B	0.39590	0.205;0.104;0.042;0.304;0.018;0.304	T	0.42085	-0.9472	10	0.07030	T	0.85	.	4.1224	0.10111	0.0:0.3204:0.3383:0.3413	.	419;303;388;388;388;388	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	K	388;388;388;303;388	ENSP00000354691:E388K;ENSP00000349434:E388K;ENSP00000357173:E388K;ENSP00000357174:E303K;ENSP00000357172:E388K	ENSP00000349434:E388K	E	-	1	0	FCRL5	155775740	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.092000	0.01354	-0.522000	0.06417	0.313000	0.20887	GAG	FCRL5	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000143297		0.483	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	58	0.00	0	C	NM_031281		157509116	157509116	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.000	T
FCRL2	79368	genome.wustl.edu	37	1	157737109	157737109	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:157737109C>G	ENST00000361516.3	-	6	1122	c.1074G>C	c.(1072-1074)ttG>ttC	p.L358F	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.L358F|FCRL2_ENST00000469986.1_Missense_Mutation_p.L105F	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	358	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTCTGCAGTCAAAGAGAGGT	0.572																																						dbGAP											0													76.0	83.0	81.0					1																	157737109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1074G>C	1.37:g.157737109C>G	ENSP00000355157:p.Leu358Phe		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L358F	ENST00000361516.3	37	c.1074	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645983	0.47258	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.03386	3.95;3.95;3.95	3.99	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.507607	0.14740	N	0.301239	T	0.11922	0.0290	H	0.94503	3.545	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.994	T	0.13791	-1.0496	10	0.38643	T	0.18	.	8.0363	0.30495	0.0:0.8854:0.0:0.1146	.	358;358;105	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	F	358;358;105	ENSP00000355157:L358F;ENSP00000376100:L358F;ENSP00000417393:L105F	ENSP00000355157:L358F	L	-	3	2	FCRL2	156003733	0.997000	0.39634	0.172000	0.22920	0.809000	0.45718	1.977000	0.40589	0.997000	0.38969	0.591000	0.81541	TTG	FCRL2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000132704		0.572	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	30	0.00	0	C	NM_030764		157737109	157737109	-1	no_errors	ENST00000361516	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.203	G
FCAMR	83953	genome.wustl.edu	37	1	207134028	207134028	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:207134028G>A	ENST00000324852.4	-	6	1667	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	FCAMR_ENST00000400962.3_Intron|FCAMR_ENST00000450945.2_Intron|FCAMR_ENST00000486178.1_5'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	353					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TTGTTGCTTAGAAACTGGCGT	0.522																																					Ovarian(199;1883 2142 16966 44409 45154)	dbGAP											0													144.0	114.0	123.0					1																	207134028		692	1591	2283	-	-	-	SO:0001583	missense	0			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1193C>T	1.37:g.207134028G>A	ENSP00000316491:p.Ser398Phe		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S398F	ENST00000324852.4	37	c.1193	CCDS53468.1	1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763281	0.69763	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.09255	3.0	5.51	5.51	0.81932	.	0.220109	0.32655	N	0.005804	T	0.27731	0.0682	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.927	T	0.00152	-1.1983	10	0.87932	D	0	-7.9863	15.2763	0.73745	0.0:0.0:1.0:0.0	.	373;353	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	F	398;374	ENSP00000316491:S398F	ENSP00000316491:S398F	S	-	2	0	FCAMR	205200651	0.361000	0.24972	0.590000	0.28732	0.066000	0.16364	4.460000	0.60108	2.746000	0.94184	0.655000	0.94253	TCT	FCAMR	-	NULL	ENSG00000162897		0.522	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FCAMR	HGNC	protein_coding	OTTHUMT00000088969.2	99	0.00	0	G	NM_032029		207134028	207134028	-1	no_errors	ENST00000324852	ensembl	human	novel	69_37n	missense	88	21.43	24	SNP	0.308	A
FDCSP	260436	genome.wustl.edu	37	4	71098739	71098739	+	Missense_Mutation	SNP	G	G	C	rs555778226		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:71098739G>C	ENST00000317987.5	+	3	198	c.86G>C	c.(85-87)aGa>aCa	p.R29T		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	29						extracellular region (GO:0005576)											CGAGAAAAAAGAAGTGTAAGT	0.284																																						dbGAP											0													91.0	93.0	92.0					4																	71098739		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.86G>C	4.37:g.71098739G>C	ENSP00000318437:p.Arg29Thr			Missense_Mutation	SNP	NULL	p.R29T	ENST00000317987.5	37	c.86	CCDS3537.1	4	.	.	.	.	.	.	.	.	.	.	G	4.285	0.052152	0.08291	.	.	ENSG00000181617	ENST00000317987	.	.	.	4.33	1.47	0.22746	.	1.330830	0.05699	N	0.593794	T	0.59783	0.2219	.	.	.	0.23144	N	0.998222	D	0.71674	0.998	D	0.66979	0.948	T	0.36286	-0.9754	8	0.87932	D	0	-4.9393	6.824	0.23872	0.3025:0.0:0.6975:0.0	.	29	Q8NFU4	FDSCP_HUMAN	T	29	.	ENSP00000318437:R29T	R	+	2	0	C4orf7	71133328	0.113000	0.22115	0.436000	0.26797	0.066000	0.16364	-0.700000	0.05081	0.146000	0.19002	0.557000	0.71058	AGA	FDCSP	-	NULL	ENSG00000181617		0.284	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDCSP	HGNC	protein_coding	OTTHUMT00000251549.1	114	0.00	0	G	NM_152997		71098739	71098739	+1	no_errors	ENST00000317987	ensembl	human	known	69_37n	missense	120	12.41	17	SNP	0.709	C
FER	2241	genome.wustl.edu	37	5	108168544	108168544	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:108168544C>G	ENST00000281092.4	+	4	665	c.281C>G	c.(280-282)tCt>tGt	p.S94C	CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000536402.1_Missense_Mutation_p.S94C|FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	94	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACTTGAACTCTGGACCTTTA	0.383																																					Colon(146;1051 1799 9836 27344 47401)	dbGAP											0													144.0	131.0	136.0					5																	108168544		2202	4300	6502	-	-	-	SO:0001583	missense	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.281C>G	5.37:g.108168544C>G	ENSP00000281092:p.Ser94Cys		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S94C	ENST00000281092.4	37	c.281	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.148560	0.94603	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.49432	0.78;0.78	6.0	6.0	0.97389	.	0.148639	0.64402	D	0.000006	T	0.54046	0.1834	L	0.50333	1.59	0.80722	D	1	P;D	0.55172	0.621;0.97	B;P	0.47673	0.299;0.554	T	0.56202	-0.8018	10	0.87932	D	0	-11.4201	20.4949	0.99206	0.0:1.0:0.0:0.0	.	94;94	Q6PEJ9;P16591	.;FER_HUMAN	C	94	ENSP00000281092:S94C;ENSP00000442627:S94C	ENSP00000281092:S94C	S	+	2	0	FER	108196443	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.054000	0.76649	2.848000	0.98002	0.655000	0.94253	TCT	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr	ENSG00000151422		0.383	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	49	0.00	0	C	NM_005246		108168544	108168544	+1	no_errors	ENST00000281092	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	1.000	G
FER1L6	654463	genome.wustl.edu	37	8	124982322	124982322	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:124982322G>C	ENST00000522917.1	+	6	638	c.432G>C	c.(430-432)aaG>aaC	p.K144N	FER1L6_ENST00000399018.1_Missense_Mutation_p.K144N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	144	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTGACAAGATCATCAAAA	0.438																																						dbGAP											0													156.0	148.0	150.0					8																	124982322		1874	4096	5970	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.432G>C	8.37:g.124982322G>C	ENSP00000428280:p.Lys144Asn			Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K144N	ENST00000522917.1	37	c.432	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096493	0.76870	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81821	-1.54;-1.54	6.16	5.19	0.71726	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.84822	0.5557	M	0.67517	2.055	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.82643	-0.0356	10	0.33141	T	0.24	.	4.1543	0.10252	0.2969:0.0:0.7031:0.0	.	144	Q2WGJ9	FR1L6_HUMAN	N	144	ENSP00000428280:K144N;ENSP00000381982:K144N	ENSP00000381982:K144N	K	+	3	2	FER1L6	125051503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.229000	0.42990	2.937000	0.99478	0.650000	0.86243	AAG	FER1L6	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000214814		0.438	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	152	0.00	0	G	NM_001039112		124982322	124982322	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	110	24.66	36	SNP	1.000	C
FGFR1OP	11116	genome.wustl.edu	37	6	167417226	167417226	+	Missense_Mutation	SNP	G	G	A	rs551960883	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:167417226G>A	ENST00000366847.4	+	4	458	c.227G>A	c.(226-228)aGt>aAt	p.S76N	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Missense_Mutation_p.S76N|FGFR1OP_ENST00000476078.1_3'UTR	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	76	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TTAGTGGCTAGTCTTGTTGCA	0.284			T	FGFR1	"""MPD, NHL"""								G|||	46	0.0091853	0.0038	0.0058	5008	,	,		15915	0.0317		0.005	False		,,,				2504	0.0					dbGAP		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0													116.0	111.0	113.0					6																	167417226		2199	4295	6494	-	-	-	SO:0001583	missense	0			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.227G>A	6.37:g.167417226G>A	ENSP00000355812:p.Ser76Asn		A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP	pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation	p.S76N	ENST00000366847.4	37	c.227	CCDS5296.1	6	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022564	0.35701	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	T;T	0.32023	1.47;1.49	5.93	5.93	0.95920	LisH dimerisation motif (2);FGFR1 oncogene partner (FOP), N-terminal dimerisation domain (1);	0.265068	0.43919	D	0.000514	T	0.09335	0.0230	N	0.05414	-0.055	0.33543	D	0.595187	P;B;B	0.40681	0.727;0.063;0.117	B;B;B	0.39935	0.314;0.034;0.304	T	0.07290	-1.0780	10	0.42905	T	0.14	-10.5511	12.6186	0.56590	0.0746:0.0:0.9254:0.0	.	76;76;76	E7ET71;O95684-2;O95684	.;.;FR1OP_HUMAN	N	76	ENSP00000355812:S76N;ENSP00000230248:S76N	ENSP00000230248:S76N	S	+	2	0	FGFR1OP	167337216	1.000000	0.71417	0.949000	0.38748	0.986000	0.74619	5.787000	0.69013	2.826000	0.97356	0.655000	0.94253	AGT	FGFR1OP	-	pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation	ENSG00000213066		0.284	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1OP	HGNC	protein_coding	OTTHUMT00000043099.2	341	0.29	1	G	NM_007045		167417226	167417226	+1	no_errors	ENST00000366847	ensembl	human	known	69_37n	missense	212	22.63	62	SNP	1.000	A
FGGY	55277	genome.wustl.edu	37	1	59922675	59922675	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:59922675G>C	ENST00000303721.7	+	6	771	c.597G>C	c.(595-597)gaG>gaC	p.E199D	FGGY_ENST00000371218.4_Missense_Mutation_p.E199D|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.E111D	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	199					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ATTCAGCAGAGAAAGGCTGGG	0.383																																						dbGAP											0													144.0	142.0	143.0					1																	59922675		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.597G>C	1.37:g.59922675G>C	ENSP00000305922:p.Glu199Asp		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.E199D	ENST00000303721.7	37	c.597	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052190	0.19827	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212	T;T;T	0.58797	0.31;0.31;0.31	5.15	2.09	0.27110	Carbohydrate kinase, FGGY, N-terminal (1);	0.275088	0.41194	N	0.000940	T	0.30572	0.0769	N	0.11789	0.175	0.44685	D	0.99767	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.001;0.0;0.004	T	0.03933	-1.0991	9	.	.	.	-22.168	4.6453	0.12568	0.078:0.1149:0.4793:0.3278	.	199;111;199;199	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	D	199;199;111	ENSP00000360262:E199D;ENSP00000305922:E199D;ENSP00000360256:E111D	.	E	+	3	2	FGGY	59695263	0.560000	0.26570	0.888000	0.34837	0.893000	0.52053	-0.009000	0.12765	0.730000	0.32425	0.655000	0.94253	GAG	FGGY	-	pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.383	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	152	0.00	0	G	NM_001113411		59922675	59922675	+1	no_errors	ENST00000303721	ensembl	human	known	69_37n	missense	121	35.98	68	SNP	0.314	C
FKBP5	2289	genome.wustl.edu	37	6	35588008	35588008	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:35588008C>T	ENST00000539068.1	-	4	496	c.294G>A	c.(292-294)aaG>aaA	p.K98K	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Silent_p.K98K|FKBP5_ENST00000536438.1_Silent_p.K98K|FKBP5_ENST00000357266.4_Silent_p.K98K	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	98	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCTCTCCTTTCTTCATGGTAG	0.428																																						dbGAP											0													160.0	131.0	141.0					6																	35588008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.294G>A	6.37:g.35588008C>T			F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.K98	ENST00000539068.1	37	c.294	CCDS4808.1	6																																																																																			FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000096060		0.428	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	91	0.00	0	C			35588008	35588008	-1	no_errors	ENST00000337746	ensembl	human	known	69_37n	silent	65	18.52	15	SNP	1.000	T
FKBP5	2289	genome.wustl.edu	37	6	35588011	35588011	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:35588011C>T	ENST00000539068.1	-	4	493	c.291G>A	c.(289-291)atG>atA	p.M97I	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Missense_Mutation_p.M97I|FKBP5_ENST00000536438.1_Missense_Mutation_p.M97I|FKBP5_ENST00000357266.4_Missense_Mutation_p.M97I	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	97	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.M97I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTCCTTTCTTCATGGTAGCCA	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											156.0	128.0	138.0					6																	35588011		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.291G>A	6.37:g.35588011C>T	ENSP00000441205:p.Met97Ile		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.M97I	ENST00000539068.1	37	c.291	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.323653	0.95708	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.75	5.75	0.90469	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.139714	0.64402	D	0.000006	D	0.95623	0.8577	M	0.94142	3.5	0.80722	D	1	B;D	0.63046	0.346;0.992	B;P	0.61070	0.371;0.883	D	0.96166	0.9119	10	0.87932	D	0	-2.1083	19.9564	0.97221	0.0:1.0:0.0:0.0	.	97;97	F5H7R1;Q13451	.;FKBP5_HUMAN	I	97;97;97;97;60;97;95	ENSP00000444810:M97I;ENSP00000349811:M97I;ENSP00000441205:M97I;ENSP00000442340:M97I	ENSP00000338160:M97I	M	-	3	0	FKBP5	35695989	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.708000	0.92522	0.650000	0.86243	ATG	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000096060		0.423	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	92	0.00	0	C			35588011	35588011	-1	no_errors	ENST00000337746	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	1.000	T
FLNA	2316	genome.wustl.edu	37	X	153594507	153594507	+	Silent	SNP	G	G	A	rs372113435		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:153594507G>A	ENST00000369850.3	-	9	1550	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	FLNA_ENST00000360319.4_Silent_p.G438G|FLNA_ENST00000344736.4_Silent_p.G438G|FLNA_ENST00000422373.1_Silent_p.G438G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	438					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G438G(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGTGCTGTCGCCCCGGGCCT	0.677																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											46.0	53.0	51.0					X																	153594507		2138	4207	6345	-	-	-	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1314C>T	X.37:g.153594507G>A			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G438	ENST00000369850.3	37	c.1314	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.677	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	19	0.00	0	G			153594507	153594507	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	0.928	A
FLNC	2318	genome.wustl.edu	37	7	128484829	128484829	+	Missense_Mutation	SNP	G	G	A	rs535109443		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:128484829G>A	ENST00000325888.8	+	21	3571	c.3310G>A	c.(3310-3312)Gag>Aag	p.E1104K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1104K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1104					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCCCCTGCGAGGCCAAGAT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19835	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													65.0	74.0	71.0					7																	128484829		2094	4236	6330	-	-	-	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3310G>A	7.37:g.128484829G>A	ENSP00000327145:p.Glu1104Lys		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1104K	ENST00000325888.8	37	c.3310	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	g	33	5.242802	0.95272	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91521	-2.86;-2.86	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.94882	0.8040	10	0.72032	D	0.01	.	19.5124	0.95148	0.0:0.0:1.0:0.0	.	1104;1104	Q14315-2;Q14315	.;FLNC_HUMAN	K	1104	ENSP00000327145:E1104K;ENSP00000344002:E1104K	ENSP00000327145:E1104K	E	+	1	0	FLNC	128272065	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	2.611000	0.88343	0.550000	0.68814	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	35	0.00	0	G			128484829	128484829	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	A
FLRT3	23767	genome.wustl.edu	37	20	14306370	14306370	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:14306370G>T	ENST00000378053.3	-	2	2039	c.1783C>A	c.(1783-1785)Cag>Aag	p.Q595K	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q595K|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	595					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGTAACATCTGAAAAGAAGTT	0.403																																						dbGAP											0													183.0	165.0	171.0					20																	14306370		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1783C>A	20.37:g.14306370G>T	ENSP00000367292:p.Gln595Lys		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.Q595K	ENST00000378053.3	37	c.1783	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975788	0.53720	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.69561	-0.41;-0.41	6.16	6.16	0.99307	.	0.066067	0.64402	D	0.000008	T	0.79753	0.4500	M	0.66939	2.045	0.80722	D	1	D	0.54964	0.969	P	0.58172	0.834	T	0.79577	-0.1746	10	0.87932	D	0	-7.1636	20.8598	0.99761	0.0:0.0:1.0:0.0	.	595	Q9NZU0	FLRT3_HUMAN	K	595	ENSP00000367292:Q595K;ENSP00000339912:Q595K	ENSP00000339912:Q595K	Q	-	1	0	FLRT3	14254370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CAG	FLRT3	-	NULL	ENSG00000125848		0.403	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	HGNC	protein_coding	OTTHUMT00000078075.1	89	0.00	0	G	NM_013281		14306370	14306370	-1	no_errors	ENST00000341420	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	T
FMN1	342184	genome.wustl.edu	37	15	33149276	33149276	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:33149276C>G	ENST00000559047.1	-	14	3867	c.3868G>C	c.(3868-3870)Gag>Cag	p.E1290Q	FMN1_ENST00000334528.9_Missense_Mutation_p.E1067Q|FMN1_ENST00000561249.1_Missense_Mutation_p.E1192Q			Q68DA7	FMN1_HUMAN	formin 1	1290	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTGGGGACTCCTTGCACACC	0.473																																						dbGAP											0													130.0	130.0	130.0					15																	33149276		1958	4145	6103	-	-	-	SO:0001583	missense	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3868G>C	15.37:g.33149276C>G	ENSP00000454047:p.Glu1290Gln		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.E1067Q	ENST00000559047.1	37	c.3199		15	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404865	0.62288	.	.	ENSG00000248905	ENST00000334528	T	0.63744	-0.06	5.12	5.12	0.69794	.	0.217640	0.48286	D	0.000188	T	0.63319	0.2501	L	0.29908	0.895	.	.	.	D	0.57571	0.98	P	0.57620	0.824	T	0.62110	-0.6923	9	0.22109	T	0.4	.	15.5839	0.76468	0.0:1.0:0.0:0.0	.	1067	Q68DA7-5	.	Q	1067	ENSP00000333950:E1067Q	ENSP00000333950:E1067Q	E	-	1	0	FMN1	30936568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.301000	0.51842	2.664000	0.90586	0.650000	0.86243	GAG	FMN1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000248905		0.473	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	94	0.00	0	C	NM_001103184		33149276	33149276	-1	no_errors	ENST00000334528	ensembl	human	known	69_37n	missense	62	19.23	15	SNP	1.000	G
FOLH1B	219595	genome.wustl.edu	37	11	89391855	89391855	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:89391855C>T	ENST00000532352.1	+	0	471							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACATGAAAATCAATTGCTCTG	0.343																																						dbGAP											0																																										-	-	-			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89391855C>T				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.343	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	74	0.00	0	C	NM_153696		89391855	89391855	+1	no_errors	ENST00000526379	ensembl	human	known	69_37n	rna	41	32.79	20	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79410060	79410060	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:79410060C>G	ENST00000264895.6	+	59	9224	c.8784C>G	c.(8782-8784)ctC>ctG	p.L2928L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2924	Calx-beta 4.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGATTTGCTCCTAGTGAAGG	0.542																																						dbGAP											0													80.0	79.0	80.0					4																	79410060		2068	4196	6264	-	-	-	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8784C>G	4.37:g.79410060C>G			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P1157A	ENST00000264895.6	37	c.3469	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	0.355	-0.942897	0.02322	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.71	2.04	0.26737	.	.	.	.	.	T	0.53850	0.1822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	.	6.1525	0.20320	0.0:0.5948:0.125:0.2802	.	.	.	.	A	1157	.	.	P	+	1	0	FRAS1	79629084	0.999000	0.42202	0.929000	0.37066	0.072000	0.16883	1.498000	0.35660	0.067000	0.16545	-0.165000	0.13383	CCT	FRAS1	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000138759		0.542	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		66	0.00	0	C			79410060	79410060	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512123	ensembl	human	novel	69_37n	missense	66	22.35	19	SNP	0.997	G
FTCD	10841	genome.wustl.edu	37	21	47556829	47556829	+	3'UTR	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:47556829C>T	ENST00000397746.3	-	0	1741				FTCD_ENST00000359679.2_Splice_Site_p.E560K|FTCD_ENST00000291670.5_Intron|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000397748.1_Splice_Site_p.E560K	NM_206965.1	NP_996848.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase						cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GTGTCCCCACCGAGGTCACAG	0.697																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000397746.3:c.*72G>A	21.37:g.47556829C>T			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.E560K	ENST00000397746.3	37	c.1678	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466726	0.26335	.	.	ENSG00000160282	ENST00000397748;ENST00000359679	T;T	0.73363	-0.74;-0.74	0.865	-0.292	0.12839	.	.	.	.	.	T	0.67353	0.2884	.	.	.	0.09310	N	0.999999	P	0.47191	0.891	P	0.46049	0.502	T	0.58907	-0.7553	8	0.87932	D	0	.	3.5559	0.07863	0.0:0.6866:0.0:0.3134	.	560	O95954-2	.	K	560	ENSP00000380856:E560K;ENSP00000352707:E560K	ENSP00000352707:E560K	E	-	1	0	FTCD	46381257	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.036000	0.12185	-0.122000	0.11766	0.442000	0.29010	GAA	FTCD	-	NULL	ENSG00000160282		0.697	FTCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206959.1	15	0.00	0	C	NM_006657		47556829	47556829	-1	no_errors	ENST00000359679	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.001	T
FYTTD1	84248	genome.wustl.edu	37	3	197497048	197497048	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:197497048C>T	ENST00000241502.4	+	4	652	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	FYTTD1_ENST00000424384.2_Silent_p.L77L|FYTTD1_ENST00000415708.2_Silent_p.L118L|FYTTD1_ENST00000428395.2_Silent_p.L53L	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	144					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GGCAAACCTTCTGAGACAAAA	0.338																																						dbGAP											0													63.0	60.0	61.0					3																	197497048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.430C>T	3.37:g.197497048C>T			A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Silent	SNP	pfam_DUF1346	p.L144	ENST00000241502.4	37	c.430	CCDS3329.1	3																																																																																			FYTTD1	-	pfam_DUF1346	ENSG00000122068		0.338	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYTTD1	HGNC	protein_coding	OTTHUMT00000340185.3	74	0.00	0	C	NM_032288		197497048	197497048	+1	no_errors	ENST00000241502	ensembl	human	known	69_37n	silent	39	31.58	18	SNP	1.000	T
FZD3	7976	genome.wustl.edu	37	8	28385334	28385334	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:28385334G>A	ENST00000240093.3	+	5	1535	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.E353K	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	353					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAATAAAATTGAAGGTGACAA	0.448																																						dbGAP											0													142.0	139.0	140.0					8																	28385334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1057G>A	8.37:g.28385334G>A	ENSP00000240093:p.Glu353Lys		A8K615	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.E353K	ENST00000240093.3	37	c.1057	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772507	0.90108	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.83335	-1.71;-1.71	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92054	0.7482	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93179	0.6573	10	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	353	Q9NPG1	FZD3_HUMAN	K	353	ENSP00000437489:E353K;ENSP00000240093:E353K	ENSP00000240093:E353K	E	+	1	0	FZD3	28441253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	GAA	FZD3	-	pfam_Frizzled,prints_Frizzled,pfscan_GPCR_2-like	ENSG00000104290		0.448	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	HGNC	protein_coding	OTTHUMT00000219986.2	119	0.00	0	G	NM_145866		28385334	28385334	+1	no_errors	ENST00000240093	ensembl	human	known	69_37n	missense	100	12.28	14	SNP	1.000	A
GALNT1	2589	genome.wustl.edu	37	18	33243615	33243615	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:33243615C>T	ENST00000269195.5	+	2	266	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	GALNT1_ENST00000591081.1_Missense_Mutation_p.H55Y|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	55					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACAAAAGCCTCATGAAGGTCC	0.328																																						dbGAP											0													76.0	76.0	76.0					18																	33243615		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.163C>T	18.37:g.33243615C>T	ENSP00000269195:p.His55Tyr		Q86TJ7|Q9UM86	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H55Y	ENST00000269195.5	37	c.163	CCDS11915.1	18	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586809	0.66105	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.54071	0.59	5.42	5.42	0.78866	.	0.167517	0.53938	D	0.000046	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	10	0.59425	D	0.04	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	55	Q10472	GALT1_HUMAN	Y	55	ENSP00000269195:H55Y	ENSP00000269195:H55Y	H	+	1	0	GALNT1	31497613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	CAT	GALNT1	-	NULL	ENSG00000141429		0.328	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT1	HGNC	protein_coding	OTTHUMT00000255771.2	61	0.00	0	C	NM_020474		33243615	33243615	+1	no_errors	ENST00000269195	ensembl	human	known	69_37n	missense	62	23.46	19	SNP	1.000	T
GALNT12	79695	genome.wustl.edu	37	9	101597549	101597549	+	Silent	SNP	T	T	G	rs201140510	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:101597549T>G	ENST00000375011.3	+	5	936	c.936T>G	c.(934-936)ggT>ggG	p.G312G		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	312	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAATGGCTGGTGGGCTGTTTG	0.423													T|||	689	0.13758	0.0658	0.1787	5008	,	,		21007	0.255		0.2127	False		,,,				2504	0.0072					dbGAP											0													143.0	151.0	148.0					9																	101597549		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.936T>G	9.37:g.101597549T>G			Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G312	ENST00000375011.3	37	c.936	CCDS6737.1	9																																																																																			GALNT12	-	pfam_Glyco_trans_2	ENSG00000119514		0.423	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	HGNC	protein_coding	OTTHUMT00000053382.1	169	0.59	1	T	NM_024642		101597549	101597549	+1	no_errors	ENST00000375011	ensembl	human	known	69_37n	silent	120	25.00	40	SNP	0.816	G
GAS6	2621	genome.wustl.edu	37	13	114537535	114537535	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:114537535C>A	ENST00000327773.6	-	8	969	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	GAS6_ENST00000418959.3_5'Flank|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Missense_Mutation_p.D275Y|GAS6_ENST00000355761.4_Missense_Mutation_p.D221Y|GAS6_ENST00000450766.1_Missense_Mutation_p.D2Y	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	275	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TCACAGGTGTCCATGTCCTGG	0.682																																						dbGAP											0													30.0	26.0	28.0					13																	114537535		2168	4281	6449	-	-	-	SO:0001583	missense	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.823G>T	13.37:g.114537535C>A	ENSP00000331831:p.Asp275Tyr		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.D275Y	ENST00000327773.6	37	c.823	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351245	0.41700	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000327773	D;T;D;T	0.90900	-2.75;-1.11;-2.02;-1.11	4.59	2.41	0.29592	.	.	.	.	.	T	0.77350	0.4117	N	0.04686	-0.185	0.80722	D	1	P;P	0.42620	0.681;0.785	B;B	0.37888	0.169;0.26	T	0.73685	-0.3905	9	0.72032	D	0.01	-15.9614	7.4167	0.27048	0.0:0.1483:0.0:0.8517	.	2;275	B3KVL4;Q14393-2	.;.	Y	275;221;2;275	ENSP00000349962:D275Y;ENSP00000348003:D221Y;ENSP00000416498:D2Y;ENSP00000331831:D275Y	ENSP00000331831:D275Y	D	-	1	0	GAS6	113576408	1.000000	0.71417	0.994000	0.49952	0.477000	0.33069	1.089000	0.30890	0.243000	0.21327	-0.463000	0.05309	GAC	GAS6	-	superfamily_ConA-like_lec_gl,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000183087		0.682	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	21	0.00	0	C	NM_000820		114537535	114537535	-1	no_errors	ENST00000357389	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	1.000	A
GBP2	2634	genome.wustl.edu	37	1	89573883	89573883	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:89573883A>C	ENST00000370466.3	-	11	2019	c.1751T>G	c.(1750-1752)tTg>tGg	p.L584W	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	584					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TATTGGCTCCAATGATTTGCT	0.433																																						dbGAP											0													189.0	173.0	179.0					1																	89573883		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1751T>G	1.37:g.89573883A>C	ENSP00000359497:p.Leu584Trp		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.L584W	ENST00000370466.3	37	c.1751	CCDS719.1	1	.	.	.	.	.	.	.	.	.	.	A	0.479	-0.880627	0.02530	.	.	ENSG00000162645	ENST00000370466	T	0.63255	-0.03	2.68	-5.36	0.02689	.	13.952900	0.00802	U	0.001423	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	B	0.39531	0.302	T	0.57694	-0.7767	10	0.66056	D	0.02	.	0.6199	0.00776	0.2225:0.2935:0.164:0.32	.	584	P32456	GBP2_HUMAN	W	584	ENSP00000359497:L584W	ENSP00000359497:L584W	L	-	2	0	GBP2	89346471	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.240000	0.00544	-5.191000	0.00019	-4.730000	0.00003	TTG	GBP2	-	NULL	ENSG00000162645		0.433	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	146	0.00	0	A	NM_004120		89573883	89573883	-1	no_errors	ENST00000370466	ensembl	human	known	69_37n	missense	98	10.09	11	SNP	0.000	C
PAXBP1	94104	genome.wustl.edu	37	21	34123276	34123276	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:34123276C>T	ENST00000331923.4	-	10	1864	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D559N	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	559					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTTCATCATCACTGGAAAGG	0.363																																						dbGAP											0													143.0	141.0	142.0					21																	34123276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1675G>A	21.37:g.34123276C>T	ENSP00000328992:p.Asp559Asn		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	pfam_GCFC_dom	p.D559N	ENST00000331923.4	37	c.1675	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.272973	0.95429	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.51325	1.09;0.71	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.77784	-0.2458	10	0.72032	D	0.01	-25.9853	18.9016	0.92444	0.0:1.0:0.0:0.0	.	559;559;68	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	N	559	ENSP00000328992:D559N;ENSP00000290178:D559N	ENSP00000290178:D559N	D	-	1	0	GCFC1	33045147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.574000	0.86865	0.557000	0.71058	GAT	GCFC1	-	NULL	ENSG00000159086		0.363	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC1	HGNC	protein_coding	OTTHUMT00000139563.1	94	0.00	0	C	NM_013329		34123276	34123276	-1	no_errors	ENST00000331923	ensembl	human	known	69_37n	missense	89	12.75	13	SNP	1.000	T
GCLM	2730	genome.wustl.edu	37	1	94354629	94354629	+	Missense_Mutation	SNP	G	G	T	rs199678453		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:94354629G>T	ENST00000370238.3	-	7	988	c.742C>A	c.(742-744)Ctg>Atg	p.L248M		NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	248					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	GAATACCGCAGTAGCCACAGC	0.418																																						dbGAP											0													62.0	69.0	67.0					1																	94354629		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.742C>A	1.37:g.94354629G>T	ENSP00000359258:p.Leu248Met		A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.L248M	ENST00000370238.3	37	c.742	CCDS746.1	1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325653	0.41197	.	.	ENSG00000023909	ENST00000370238	T	0.48201	0.82	5.61	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.55743	1.74	0.58432	D	0.999992	P	0.52577	0.954	B	0.43950	0.437	T	0.17048	-1.0382	10	0.48119	T	0.1	.	10.9364	0.47247	0.1453:0.0:0.8547:0.0	.	248	P48507	GSH0_HUMAN	M	248	ENSP00000359258:L248M	ENSP00000359258:L248M	L	-	1	2	GCLM	94127217	1.000000	0.71417	0.944000	0.38274	0.874000	0.50279	4.364000	0.59479	1.348000	0.45733	0.591000	0.81541	CTG	GCLM	-	NULL	ENSG00000023909		0.418	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLM	HGNC	protein_coding	OTTHUMT00000029169.1	80	0.00	0	G	NM_002061		94354629	94354629	-1	no_errors	ENST00000370238	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.994	T
GDI2	2665	genome.wustl.edu	37	10	5827855	5827855	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:5827855C>G	ENST00000380191.4	-	5	837	c.547G>C	c.(547-549)Gat>Cat	p.D183H	GDI2_ENST00000380132.4_Missense_Mutation_p.D187H|GDI2_ENST00000380181.3_Missense_Mutation_p.D138H	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	183					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						CCAGTAAAATCTATAACGTCT	0.333																																						dbGAP											0													135.0	125.0	128.0					10																	5827855		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.547G>C	10.37:g.5827855C>G	ENSP00000369538:p.Asp183His		O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.D187H	ENST00000380191.4	37	c.559	CCDS7071.1	10	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733714	0.89482	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	M	0.77712	2.385	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.80764	0.994;0.981;0.994	D	0.94424	0.7643	10	0.59425	D	0.04	-3.9014	19.166	0.93557	0.0:1.0:0.0:0.0	.	187;138;183	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	H	183;16;11;187;138;173;147	ENSP00000369538:D183H;ENSP00000387565:D11H;ENSP00000369475:D187H;ENSP00000369528:D138H;ENSP00000401733:D173H;ENSP00000394177:D147H	ENSP00000369475:D187H	D	-	1	0	GDI2	5867861	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.664000	0.83830	2.709000	0.92574	0.655000	0.94253	GAT	GDI2	-	pfam_GDP_dissociation_inhibitor,prints_RabGDI	ENSG00000057608		0.333	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI2	HGNC	protein_coding	OTTHUMT00000046580.1	60	0.00	0	C	NM_001494		5827855	5827855	-1	no_errors	ENST00000380132	ensembl	human	known	69_37n	missense	62	25.30	21	SNP	1.000	G
GDI2	2665	genome.wustl.edu	37	10	5827883	5827883	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:5827883C>T	ENST00000380191.4	-	5	809	c.519G>A	c.(517-519)aaG>aaA	p.K173K	GDI2_ENST00000380132.4_Silent_p.K177K|GDI2_ENST00000380181.3_Silent_p.K128K	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	173					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AATCAAATTTCTTATACACAT	0.343																																						dbGAP											0													139.0	130.0	133.0					10																	5827883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.519G>A	10.37:g.5827883C>T			O43928|Q5SX88|Q9UQM6	Silent	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.K177	ENST00000380191.4	37	c.531	CCDS7071.1	10																																																																																			GDI2	-	pfam_GDP_dissociation_inhibitor	ENSG00000057608		0.343	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI2	HGNC	protein_coding	OTTHUMT00000046580.1	77	0.00	0	C	NM_001494		5827883	5827883	-1	no_errors	ENST00000380132	ensembl	human	known	69_37n	silent	71	26.04	25	SNP	1.000	T
GFOD2	81577	genome.wustl.edu	37	16	67709771	67709771	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:67709771C>T	ENST00000268797.7	-	3	790	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	149					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		ATGCGGGCATCACAGATCATC	0.592																																						dbGAP											0													88.0	78.0	82.0					16																	67709771		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.445G>A	16.37:g.67709771C>T	ENSP00000268797:p.Asp149Asn		Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.D149N	ENST00000268797.7	37	c.445	CCDS10845.1	16	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324612	0.81580	.	.	ENSG00000141098	ENST00000268797	T	0.21932	1.98	5.0	5.0	0.66597	.	0.045696	0.85682	D	0.000000	T	0.41442	0.1159	M	0.72118	2.19	0.80722	D	1	D	0.59767	0.986	P	0.57009	0.811	T	0.18493	-1.0335	10	0.38643	T	0.18	-25.9585	18.2572	0.90023	0.0:1.0:0.0:0.0	.	149	Q3B7J2	GFOD2_HUMAN	N	149	ENSP00000268797:D149N	ENSP00000268797:D149N	D	-	1	0	GFOD2	66267272	1.000000	0.71417	0.442000	0.26870	0.372000	0.29890	7.792000	0.85828	2.475000	0.83589	0.557000	0.71058	GAT	GFOD2	-	NULL	ENSG00000141098		0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD2	HGNC	protein_coding	OTTHUMT00000268868.2	44	0.00	0	C	NM_030819		67709771	67709771	-1	no_errors	ENST00000268797	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	T
GHRHR	2692	genome.wustl.edu	37	7	31018925	31018925	+	3'UTR	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:31018925C>T	ENST00000326139.2	+	0	1384				GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000409904.3_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CTGCCATGCTCTGGAGGAGCA	0.607																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.*66C>T	7.37:g.31018925C>T			Q99863	RNA	SNP	-	NULL	ENST00000326139.2	37	NULL	CCDS5432.1	7																																																																																			GHRHR	-	-	ENSG00000106128		0.607	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2	22	0.00	0	C			31018925	31018925	+1	no_errors	ENST00000463164	ensembl	human	putative	69_37n	rna	13	31.58	6	SNP	0.001	T
GID8	54994	genome.wustl.edu	37	20	61572953	61572953	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:61572953C>T	ENST00000266069.3	+	2	246	c.99C>T	c.(97-99)atC>atT	p.I33I		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	33	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cell junction (GO:0030054)|nucleus (GO:0005634)											ACCGCCTCATCATGAACTACC	0.443																																						dbGAP											0													100.0	97.0	98.0					20																	61572953		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.99C>T	20.37:g.61572953C>T			E1P5I3|Q8N5M5	Silent	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.I33	ENST00000266069.3	37	c.99	CCDS13510.1	20																																																																																			GID8	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000101193		0.443	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	65	0.00	0	C	NM_017896		61572953	61572953	+1	no_errors	ENST00000266069	ensembl	human	known	69_37n	silent	32	33.33	16	SNP	1.000	T
GIMAP8	155038	genome.wustl.edu	37	7	150174822	150174822	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:150174822C>T	ENST00000307271.3	+	5	2526	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	651						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGGAAATGTCCCAAGCCGAA	0.428																																						dbGAP											0													47.0	53.0	51.0					7																	150174822		2187	4293	6480	-	-	-	SO:0001583	missense	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1952C>T	7.37:g.150174822C>T	ENSP00000305107:p.Ser651Phe			Missense_Mutation	SNP	pfam_AIG1	p.S651F	ENST00000307271.3	37	c.1952	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	C	2.849	-0.238757	0.05944	.	.	ENSG00000171115	ENST00000307271	T	0.05319	3.46	2.59	-5.18	0.02840	AIG1 (1);	3.737930	0.01028	N	0.004080	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	B	0.27166	0.17	B	0.25614	0.062	T	0.33420	-0.9869	10	0.12430	T	0.62	.	3.757	0.08589	0.1584:0.5286:0.1992:0.1137	.	651	Q8ND71	GIMA8_HUMAN	F	651	ENSP00000305107:S651F	ENSP00000305107:S651F	S	+	2	0	GIMAP8	149805755	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.195000	0.03043	-3.564000	0.00140	-0.309000	0.09137	TCC	GIMAP8	-	pfam_AIG1	ENSG00000171115		0.428	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	33	0.00	0	C	NM_175571		150174822	150174822	+1	no_errors	ENST00000307271	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.000	T
GIT2	9815	genome.wustl.edu	37	12	110376308	110376308	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:110376308G>A	ENST00000355312.3	-	18	1879	c.1880C>T	c.(1879-1881)gCa>gTa	p.A627V	GIT2_ENST00000356259.4_Missense_Mutation_p.A514V|GIT2_ENST00000343646.5_Missense_Mutation_p.A517V|GIT2_ENST00000553118.1_Missense_Mutation_p.A499V|GIT2_ENST00000338373.5_Missense_Mutation_p.A529V|GIT2_ENST00000361006.5_Missense_Mutation_p.A597V|GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000457474.2_Missense_Mutation_p.A549V|GIT2_ENST00000360185.4_Missense_Mutation_p.A577V|GIT2_ENST00000551209.1_Missense_Mutation_p.A576V|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.A549V	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	627					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ATGGGGTTCTGCTGTGTCTGG	0.507																																						dbGAP											0													186.0	176.0	179.0					12																	110376308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1880C>T	12.37:g.110376308G>A	ENSP00000347464:p.Ala627Val		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.A627V	ENST00000355312.3	37	c.1880	CCDS9138.1	12	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938346	0.34189	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978;ENST00000542273;ENST00000546613;ENST00000548000;ENST00000548655	T;T;T;T;T;T;T;T;T;T	0.73152	-0.62;-0.6;-0.59;-0.55;-0.72;-0.56;-0.56;-0.66;-0.65;-0.63	5.78	3.92	0.45320	.	0.642964	0.17364	N	0.176915	T	0.49915	0.1585	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.08055	0.001;0.001;0.001;0.001;0.001;0.003	T	0.29181	-1.0020	10	0.20519	T	0.43	.	9.3438	0.38096	0.0878:0.1799:0.7323:0.0	.	549;549;499;627;535;597	Q14161-10;F8WAK2;Q14161-11;Q14161;B4E027;Q14161-5	.;.;.;GIT2_HUMAN;.;.	V	627;577;549;529;517;514;549;597;499;576;13;535;13;29;29	ENSP00000347464:A627V;ENSP00000353312:A577V;ENSP00000346585:A549V;ENSP00000340342:A529V;ENSP00000340938:A517V;ENSP00000348595:A514V;ENSP00000391813:A549V;ENSP00000354282:A597V;ENSP00000447465:A499V;ENSP00000448832:A576V	ENSP00000340342:A529V	A	-	2	0	GIT2	108860691	0.790000	0.28787	0.119000	0.21687	0.676000	0.39594	2.604000	0.46274	1.446000	0.47643	0.650000	0.86243	GCA	GIT2	-	NULL	ENSG00000139436		0.507	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	122	0.00	0	G	NM_057169		110376308	110376308	-1	no_errors	ENST00000355312	ensembl	human	known	69_37n	missense	70	26.32	25	SNP	0.225	A
GLRB	2743	genome.wustl.edu	37	4	157999256	157999256	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:157999256C>T	ENST00000264428.4	+	2	350	c.80C>T	c.(79-81)tCa>tTa	p.S27L	GLRB_ENST00000541722.1_Missense_Mutation_p.S27L|GLRB_ENST00000509282.1_Missense_Mutation_p.S27L|GLRB_ENST00000512619.1_Missense_Mutation_p.S27L	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	27					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GAAAAGTCTTCAAAGAAAGGG	0.323																																						dbGAP											0													108.0	110.0	110.0					4																	157999256		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.80C>T	4.37:g.157999256C>T	ENSP00000264428:p.Ser27Leu		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S27L	ENST00000264428.4	37	c.80	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468454	0.63625	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000512619;ENST00000509282	T;T;T	0.80123	-1.34;-0.69;-1.34	5.14	5.14	0.70334	.	0.964431	0.08571	N	0.926126	D	0.82632	0.5079	N	0.14661	0.345	0.53005	D	0.999965	D	0.54601	0.967	P	0.60789	0.879	T	0.80254	-0.1459	10	0.48119	T	0.1	.	18.9781	0.92746	0.0:1.0:0.0:0.0	.	27	P48167	GLRB_HUMAN	L	27	ENSP00000264428:S27L;ENSP00000441873:S27L;ENSP00000427186:S27L	ENSP00000264428:S27L	S	+	2	0	GLRB	158218706	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.057000	0.64294	2.557000	0.86248	0.650000	0.86243	TCA	GLRB	-	NULL	ENSG00000109738		0.323	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	95	0.00	0	C	NM_000824		157999256	157999256	+1	no_errors	ENST00000264428	ensembl	human	known	69_37n	missense	70	27.55	27	SNP	1.000	T
GNA12	2768	genome.wustl.edu	37	7	2771046	2771046	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:2771046C>T	ENST00000275364.3	-	4	1077	c.915G>A	c.(913-915)gtG>gtA	p.V305V	GNA12_ENST00000407904.3_Silent_p.V246V|GNA12_ENST00000544127.1_Silent_p.V212V|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Silent_p.V229V|GNA12_ENST00000396960.3_Silent_p.V157V	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	305					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCACGGTCTTCACCTTCTCCA	0.542																																						dbGAP											0													129.0	97.0	108.0					7																	2771046		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.915G>A	7.37:g.2771046C>T			A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.V305	ENST00000275364.3	37	c.915	CCDS5335.1	7																																																																																			GNA12	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000146535		0.542	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	34	0.00	0	C	NM_007353		2771046	2771046	-1	no_errors	ENST00000275364	ensembl	human	known	69_37n	silent	29	27.50	11	SNP	0.998	T
GNA12	2768	genome.wustl.edu	37	7	2771197	2771197	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:2771197C>T	ENST00000275364.3	-	4	926	c.764G>A	c.(763-765)aGc>aAc	p.S255N	GNA12_ENST00000407904.3_Missense_Mutation_p.S196N|GNA12_ENST00000544127.1_Missense_Mutation_p.S162N|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.S179N|GNA12_ENST00000396960.3_Missense_Mutation_p.S107N	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	255					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GTCGTACTCGCTGGAGGAGAC	0.577																																						dbGAP											0													127.0	113.0	118.0					7																	2771197		2203	4300	6503	-	-	-	SO:0001583	missense	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.764G>A	7.37:g.2771197C>T	ENSP00000275364:p.Ser255Asn		A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.S255N	ENST00000275364.3	37	c.764	CCDS5335.1	7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249672	0.80024	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02	6.17	6.17	0.99709	.	0.186807	0.56097	D	0.000038	D	0.94941	0.8364	M	0.83483	2.645	0.80722	D	1	P;P;P	0.45044	0.849;0.617;0.849	P;P;P	0.48552	0.581;0.531;0.581	D	0.94734	0.7912	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	255;255;196	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	N	255;196;179;107;162	ENSP00000275364:S255N;ENSP00000385935:S196N;ENSP00000386054:S179N;ENSP00000380160:S107N;ENSP00000437469:S162N	ENSP00000275364:S255N	S	-	2	0	GNA12	2737723	1.000000	0.71417	0.223000	0.23860	0.827000	0.46813	6.147000	0.71783	2.941000	0.99782	0.655000	0.94253	AGC	GNA12	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000146535		0.577	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	43	0.00	0	C	NM_007353		2771197	2771197	-1	no_errors	ENST00000275364	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.981	T
GNPTG	84572	genome.wustl.edu	37	16	1412861	1412861	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:1412861G>A	ENST00000204679.4	+	10	820	c.777G>A	c.(775-777)ctG>ctA	p.L259L	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	259					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TCAAAAGGCTGAAAGGTTTGC	0.572																																						dbGAP											0													112.0	116.0	115.0					16																	1412861		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.777G>A	16.37:g.1412861G>A			B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L259	ENST00000204679.4	37	c.777	CCDS10436.1	16																																																																																			GNPTG	-	NULL	ENSG00000090581		0.572	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	45	0.00	0	G	NM_032520		1412861	1412861	+1	no_errors	ENST00000204679	ensembl	human	known	69_37n	silent	31	18.42	7	SNP	0.000	A
GOLGA4	2803	genome.wustl.edu	37	3	37388711	37388711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:37388711C>A	ENST00000361924.2	+	21	6874	c.6500C>A	c.(6499-6501)tCa>tAa	p.S2167*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.S2182*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2167					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGGATGTCTCACTCTTTGGA	0.343																																						dbGAP											0													143.0	140.0	141.0					3																	37388711		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6500C>A	3.37:g.37388711C>A	ENSP00000354486:p.Ser2167*		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.S2167*	ENST00000361924.2	37	c.6500	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	49	15.119255	0.99823	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.48	5.48	0.80851	.	0.000000	0.28021	N	0.016901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1104	0.89533	0.0:1.0:0.0:0.0	.	.	.	.	X	2167;2182;2038	.	ENSP00000349305:S2182X	S	+	2	0	GOLGA4	37363715	0.995000	0.38212	0.990000	0.47175	0.964000	0.63967	3.477000	0.53151	2.574000	0.86865	0.455000	0.32223	TCA	GOLGA4	-	NULL	ENSG00000144674		0.343	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	115	0.00	0	C	NM_002078		37388711	37388711	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	nonsense	108	12.80	16	SNP	0.997	A
GPATCH1	55094	genome.wustl.edu	37	19	33572169	33572169	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:33572169G>C	ENST00000170564.2	+	1	384	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	24					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCCTCTGGAAGAAGGTGCGGG	0.652																																					Pancreas(67;88 1713 4567 18227)	dbGAP											0													32.0	30.0	30.0					19																	33572169		2009	3913	5922	-	-	-	SO:0001583	missense	0			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.70G>C	19.37:g.33572169G>C	ENSP00000170564:p.Glu24Gln		Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.E24Q	ENST00000170564.2	37	c.70	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	G	29.6	5.024160	0.93462	.	.	ENSG00000076650	ENST00000170564	T	0.14893	2.47	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.32719	-0.9896	10	0.66056	D	0.02	-28.4043	17.7338	0.88387	0.0:0.0:1.0:0.0	.	24	Q9BRR8	GPTC1_HUMAN	Q	24	ENSP00000170564:E24Q	ENSP00000170564:E24Q	E	+	1	0	GPATCH1	38264009	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.937000	0.87672	2.521000	0.84997	0.467000	0.42956	GAA	GPATCH1	-	NULL	ENSG00000076650		0.652	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	29	0.00	0	G	NM_018025		33572169	33572169	+1	no_errors	ENST00000170564	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	C
GPR158	57512	genome.wustl.edu	37	10	25701277	25701277	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:25701277G>T	ENST00000376351.3	+	4	1569	c.1210G>T	c.(1210-1212)Gat>Tat	p.D404Y		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	404					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTCTGTGCTGATGACAGCCC	0.507																																						dbGAP											0													246.0	219.0	228.0					10																	25701277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1210G>T	10.37:g.25701277G>T	ENSP00000365529:p.Asp404Tyr		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.D404Y	ENST00000376351.3	37	c.1210	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901635	0.72754	.	.	ENSG00000151025	ENST00000376351	T	0.70282	-0.47	6.16	6.16	0.99307	.	0.127546	0.51477	D	0.000085	D	0.86247	0.5887	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86191	0.1612	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	404	Q5T848	GP158_HUMAN	Y	404	ENSP00000365529:D404Y	ENSP00000365529:D404Y	D	+	1	0	GPR158	25741283	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	GAT	GPR158	-	NULL	ENSG00000151025		0.507	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	65	0.00	0	G	XM_166110		25701277	25701277	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	missense	52	18.75	12	SNP	1.000	T
GPR161	23432	genome.wustl.edu	37	1	168073859	168073859	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:168073859G>A	ENST00000367838.1	-	4	543	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GPR161_ENST00000367835.1_Missense_Mutation_p.S77F|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000361697.2_Missense_Mutation_p.S77F|GPR161_ENST00000537209.1_Missense_Mutation_p.S97F|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_Missense_Mutation_p.S77F|GPR161_ENST00000367836.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	77					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CACCAACACGGACAGCAGGAA	0.537																																						dbGAP											0													239.0	210.0	220.0					1																	168073859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.230C>T	1.37:g.168073859G>A	ENSP00000356812:p.Ser77Phe		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S97F	ENST00000367838.1	37	c.290	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996181	0.93167	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367835;ENST00000537209;ENST00000361697	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.83774	2.66	0.48087	D	0.999587	D;D;D;D	0.61080	0.963;0.971;0.963;0.989	P;D;P;D	0.64321	0.839;0.924;0.839;0.922	T	0.68595	-0.5367	9	0.87932	D	0	-17.1435	17.9492	0.89047	0.0:0.0:1.0:0.0	.	97;97;77;77	F5GXD6;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;GP161_HUMAN	F	77;77;77;97;77	ENSP00000356812:S77F;ENSP00000271357:S77F;ENSP00000356809:S77F;ENSP00000441039:S97F;ENSP00000355194:S77F	ENSP00000271357:S77F	S	-	2	0	GPR161	166340483	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.643000	0.98464	2.314000	0.78098	0.561000	0.74099	TCC	GPR161	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000143147		0.537	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	105	0.00	0	G	NM_007369		168073859	168073859	-1	no_errors	ENST00000537209	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	1.000	A
GPRIN2	9721	genome.wustl.edu	37	10	46999421	46999421	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:46999421G>A	ENST00000374317.1	+	3	814	c.541G>A	c.(541-543)Gag>Aag	p.E181K	GPRIN2_ENST00000374314.4_Missense_Mutation_p.E181K	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	181										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCTGAGGATGAGACTTCTAA	0.637																																						dbGAP											0													47.0	48.0	47.0					10																	46999421		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.541G>A	10.37:g.46999421G>A	ENSP00000363436:p.Glu181Lys		Q5SVF0	Missense_Mutation	SNP	NULL	p.E181K	ENST00000374317.1	37	c.541	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255857	0.10185	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03553	3.89;3.89	5.41	4.51	0.55191	.	0.295993	0.24654	N	0.036700	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47032	-0.9148	10	0.10636	T	0.68	-9.8544	10.5144	0.44881	0.0901:0.0:0.9099:0.0	.	181	O60269	GRIN2_HUMAN	K	181	ENSP00000363436:E181K;ENSP00000363433:E181K	ENSP00000363433:E181K	E	+	1	0	GPRIN2	46419427	0.000000	0.05858	0.070000	0.20053	0.115000	0.19883	0.363000	0.20301	1.437000	0.47472	0.650000	0.86243	GAG	GPRIN2	-	NULL	ENSG00000204175		0.637	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	37	0.00	0	G	NM_014696		46999421	46999421	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	missense	14	21.05	4	SNP	0.043	A
GPSM2	29899	genome.wustl.edu	37	1	109457025	109457025	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:109457025G>A	ENST00000406462.2	+	12	2031	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.E420K			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	420					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GTTAACACCAGAAAAGGTGGG	0.308																																						dbGAP											0													52.0	55.0	54.0					1																	109457025		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1258G>A	1.37:g.109457025G>A	ENSP00000385510:p.Glu420Lys		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E420K	ENST00000406462.2	37	c.1258	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185512	0.78677	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.93426	-3.22;-3.22	5.87	5.87	0.94306	.	0.217932	0.47455	D	0.000237	D	0.91009	0.7172	M	0.66939	2.045	0.53688	D	0.999976	B	0.28713	0.22	B	0.27500	0.08	D	0.88023	0.2770	10	0.51188	T	0.08	-22.6756	20.5827	0.99408	0.0:0.0:1.0:0.0	.	420	P81274	GPSM2_HUMAN	K	420	ENSP00000385510:E420K;ENSP00000264126:E420K	ENSP00000264126:E420K	E	+	1	0	GPSM2	109258548	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.853000	0.86934	2.941000	0.99782	0.655000	0.94253	GAA	GPSM2	-	NULL	ENSG00000121957		0.308	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	63	0.00	0	G	NM_013296		109457025	109457025	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	1.000	A
GRHL2	79977	genome.wustl.edu	37	8	102631887	102631887	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:102631887C>G	ENST00000251808.3	+	9	1557	c.1219C>G	c.(1219-1221)Cat>Gat	p.H407D	GRHL2_ENST00000395927.1_Missense_Mutation_p.H391D	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	407					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)			TAAACCCATTCATAGAGCTTA	0.348																																						dbGAP											0													101.0	101.0	101.0					8																	102631887		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.1219C>G	8.37:g.102631887C>G	ENSP00000251808:p.His407Asp		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.H407D	ENST00000251808.3	37	c.1219	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896887	0.91962	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.18016	2.24;2.24	5.85	5.85	0.93711	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53056	-0.8492	10	0.72032	D	0.01	-30.1377	20.1634	0.98142	0.0:1.0:0.0:0.0	.	407	Q6ISB3	GRHL2_HUMAN	D	407;391;407	ENSP00000251808:H407D;ENSP00000379260:H391D	ENSP00000251808:H407D	H	+	1	0	GRHL2	102701063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	CAT	GRHL2	-	pfam_CP2	ENSG00000083307		0.348	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	66	0.00	0	C	NM_024915		102631887	102631887	+1	no_errors	ENST00000251808	ensembl	human	known	69_37n	missense	64	24.71	21	SNP	1.000	G
GRHPR	9380	genome.wustl.edu	37	9	37426094	37426094	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:37426094G>A	ENST00000318158.6	+	3	372				GRHPR_ENST00000607784.1_Intron|GRHPR_ENST00000493368.1_Intron	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase						cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGGCCATTCAGGGAGAATGTG	0.488																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.287+103G>A	9.37:g.37426094G>A			Q5T945|Q9H3E9|Q9H636|Q9UKX1	RNA	SNP	-	NULL	ENST00000318158.6	37	NULL	CCDS6609.1	9																																																																																			GRHPR	-	-	ENSG00000137106		0.488	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	27	0.00	0	G	NM_012203		37426094	37426094	+1	no_errors	ENST00000487399	ensembl	human	known	69_37n	rna	13	31.58	6	SNP	0.000	A
GRM1	2911	genome.wustl.edu	37	6	146678690	146678690	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:146678690G>A	ENST00000282753.1	+	5	1697	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	GRM1_ENST00000361719.2_Missense_Mutation_p.E488K|GRM1_ENST00000492807.2_Missense_Mutation_p.E488K|GRM1_ENST00000507907.1_Missense_Mutation_p.E488K|GRM1_ENST00000392299.2_Missense_Mutation_p.E488K|GRM1_ENST00000355289.4_Missense_Mutation_p.E488K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	488					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAGTACACTGAAGCTAATCG	0.388																																						dbGAP											0													166.0	138.0	148.0					6																	146678690		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1462G>A	6.37:g.146678690G>A	ENSP00000282753:p.Glu488Lys		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.E488K	ENST00000282753.1	37	c.1462	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601511	0.46423	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.18	5.18	0.71444	.	0.352028	0.34386	N	0.004003	T	0.74581	0.3735	L	0.46157	1.445	0.52501	D	0.999954	B;B;B	0.23735	0.003;0.09;0.016	B;B;B	0.19148	0.009;0.024;0.009	T	0.70981	-0.4724	10	0.28530	T	0.3	.	19.0553	0.93062	0.0:0.0:1.0:0.0	.	488;488;488	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	488	ENSP00000354896:E488K;ENSP00000376119:E488K;ENSP00000424095:E488K;ENSP00000282753:E488K;ENSP00000347437:E488K;ENSP00000425599:E488K	ENSP00000282753:E488K	E	+	1	0	GRM1	146720383	1.000000	0.71417	0.966000	0.40874	0.985000	0.73830	5.258000	0.65479	2.574000	0.86865	0.655000	0.94253	GAA	GRM1	-	prints_GPCR_3_mtglu_rcpt_1	ENSG00000152822		0.388	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	65	0.00	0	G	NM_000838		146678690	146678690	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	missense	49	32.88	24	SNP	0.959	A
GRM5	2915	genome.wustl.edu	37	11	88338035	88338035	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:88338035C>G	ENST00000305447.4	-	4	1394	c.1245G>C	c.(1243-1245)caG>caC	p.Q415H	GRM5_ENST00000305432.5_Missense_Mutation_p.Q415H|GRM5_ENST00000455756.2_Missense_Mutation_p.Q415H|GRM5_ENST00000418177.2_Missense_Mutation_p.Q415H|GRM5_ENST00000393297.1_Missense_Mutation_p.Q415H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	415					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGAGGGACATCTGCATGTTGT	0.473																																						dbGAP											0													97.0	84.0	88.0					11																	88338035		2201	4299	6500	-	-	-	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1245G>C	11.37:g.88338035C>G	ENSP00000306138:p.Gln415His		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1	p.Q415H	ENST00000305447.4	37	c.1245	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694253	0.30052	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.89	5.89	0.94794	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	N	0.02736	-0.51	0.54753	D	0.999987	B;D	0.71674	0.42;0.998	B;D	0.83275	0.33;0.996	T	0.81820	-0.0757	9	.	.	.	.	20.2637	0.98458	0.0:1.0:0.0:0.0	.	415;415	P41594-2;P41594	.;GRM5_HUMAN	H	415	ENSP00000402912:Q415H;ENSP00000405690:Q415H;ENSP00000305905:Q415H;ENSP00000306138:Q415H;ENSP00000376975:Q415H	.	Q	-	3	2	GRM5	87977683	0.987000	0.35691	1.000000	0.80357	0.993000	0.82548	1.595000	0.36708	2.798000	0.96311	0.544000	0.68410	CAG	GRM5	-	pfam_ANF_lig-bd_rcpt	ENSG00000168959		0.473	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	55	0.00	0	C	NM_000842		88338035	88338035	-1	no_errors	ENST00000305447	ensembl	human	known	69_37n	missense	33	33.33	17	SNP	1.000	G
GSR	2936	genome.wustl.edu	37	8	30553959	30553959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:30553959C>A	ENST00000221130.5	-	7	823	c.733G>T	c.(733-735)Gag>Tag	p.E245*	GSR_ENST00000546342.1_Nonsense_Mutation_p.E245*|GSR_ENST00000541648.1_Nonsense_Mutation_p.E245*|GSR_ENST00000537535.1_Nonsense_Mutation_p.E245*|GSR_ENST00000414019.1_Nonsense_Mutation_p.E202*	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	245					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CCTGCCATCTCCACAGCAATG	0.428																																						dbGAP											0													153.0	137.0	143.0					8																	30553959		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.733G>T	8.37:g.30553959C>A	ENSP00000221130:p.Glu245*		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Nonsense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.E245*	ENST00000221130.5	37	c.733	CCDS34877.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.953187|4.953187	0.92660|0.92660	.|.	.|.	ENSG00000104687|ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535;ENST00000521479|ENST00000520888	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74215	.|0.3687	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71820	.|-0.4477	.|3	0.87932|.	D|.	0|.	-9.201|-9.201	17.6277|17.6277	0.88097|0.88097	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	245;202;245;245;245;133|198	.|.	ENSP00000221130:E245X|.	E|G	-|-	1|2	0|0	GSR|GSR	30673501|30673501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.672000|6.672000	0.74477|0.74477	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	GAG|GGA	GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.428	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	60	0.00	0	C			30553959	30553959	-1	no_errors	ENST00000221130	ensembl	human	known	69_37n	nonsense	35	14.63	6	SNP	1.000	A
GTF2IRD1	9569	genome.wustl.edu	37	7	73938400	73938400	+	Splice_Site	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:73938400G>A	ENST00000265755.3	+	8	1399		c.e8-1		GTF2IRD1_ENST00000424337.2_Splice_Site|GTF2IRD1_ENST00000489094.1_Splice_Site|GTF2IRD1_ENST00000476977.1_Splice_Site|GTF2IRD1_ENST00000455841.2_Splice_Site	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1						multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTTTGATAGAGAAGTGGGA	0.607																																						dbGAP											0													72.0	55.0	61.0					7																	73938400		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1007-1G>A	7.37:g.73938400G>A			O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Splice_Site	SNP	-	e7-1	ENST00000265755.3	37	c.1007-1	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486515	0.84854	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8405	0.85967	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTF2IRD1	73576336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.941000	0.92964	2.278000	0.76064	0.561000	0.74099	.	GTF2IRD1	-	-	ENSG00000006704		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	42	0.00	0	G	NM_016328	Intron	73938400	73938400	+1	no_errors	ENST00000265755	ensembl	human	known	69_37n	splice_site	35	12.50	5	SNP	1.000	A
GTF2IRD2B	389524	genome.wustl.edu	37	7	74536717	74536717	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:74536717G>A	ENST00000312575.7	+	4	439	c.264G>A	c.(262-264)gtG>gtA	p.V88V	GTF2IRD2B_ENST00000430511.2_Silent_p.V88V|GTF2IRD2B_ENST00000356115.5_Silent_p.V88V	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						TGTGTGAGGTGAAACCTCCCT	0.488																																						dbGAP											0													16.0	19.0	18.0					7																	74536717		2123	4230	6353	-	-	-	SO:0001819	synonymous_variant	0			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.264G>A	7.37:g.74536717G>A			B2RNE9|Q69GU6|Q8N979|Q9H739	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.V88	ENST00000312575.7	37	c.264	CCDS34659.1	7																																																																																			GTF2IRD2B	-	NULL	ENSG00000174428		0.488	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2B	HGNC	protein_coding	OTTHUMT00000342728.1	21	0.00	0	G	NM_001003795		74536717	74536717	+1	no_errors	ENST00000312575	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.015	A
GTPBP3	84705	genome.wustl.edu	37	19	17449538	17449538	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:17449538G>C	ENST00000324894.8	+	4	647	c.579G>C	c.(577-579)gaG>gaC	p.E193D	GTPBP3_ENST00000600625.1_Missense_Mutation_p.E193D|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.E215D|GTPBP3_ENST00000358792.7_Missense_Mutation_p.E193D	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	193					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCTGGGCCGAGACCCTCACCA	0.637																																						dbGAP											0													32.0	47.0	42.0					19																	17449538		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.579G>C	19.37:g.17449538G>C	ENSP00000313818:p.Glu193Asp		A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.E193D	ENST00000324894.8	37	c.579	CCDS32951.1	19	.	.	.	.	.	.	.	.	.	.	g	2.872	-0.233847	0.05983	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.31769	1.51;1.51;1.48	5.22	4.16	0.48862	.	0.492034	0.23560	N	0.046873	T	0.21841	0.0526	N	0.21617	0.685	0.09310	N	1	B;B;B;B	0.10296	0.0;0.0;0.0;0.003	B;B;B;B	0.13407	0.002;0.001;0.003;0.009	T	0.18335	-1.0340	10	0.54805	T	0.06	-10.3852	11.6777	0.51440	0.0:0.1789:0.8211:0.0	.	215;193;193;193	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	D	215;193;193	ENSP00000354598:E215D;ENSP00000313818:E193D;ENSP00000351644:E193D	ENSP00000313818:E193D	E	+	3	2	GTPBP3	17310538	0.942000	0.31987	0.291000	0.24904	0.124000	0.20399	1.736000	0.38187	1.163000	0.42636	0.561000	0.74099	GAG	GTPBP3	-	NULL	ENSG00000130299		0.637	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP3	HGNC	protein_coding	OTTHUMT00000463624.1	40	0.00	0	G	NM_032620		17449538	17449538	+1	no_errors	ENST00000358792	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.165	C
GTPBP6	8225	genome.wustl.edu	37	X	229514	229514	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:229514G>A	ENST00000326153.4	-	2	147	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	279							GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTCTTCTTGCGAAGCCTGTCC	0.622																																						dbGAP											0													52.0	62.0	59.0					X																	229514		2036	4157	6193	-	-	-	SO:0001583	missense	0			Y14391	CCDS75943.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000178605	ENSG00000178605		"""Pseudoautosomal regions / PAR1"""	30189	protein-coding gene	gene with protein product	"""pseudoautosomal GTP binding protein-like"""	300124				9466997	Standard	XM_006724447		Approved	PGPL, FLJ20977	uc004cpe.1	O43824	OTTHUMG00000022694	ENST00000326153.4:c.148C>T	X.37:g.229514G>A	ENSP00000316598:p.Arg50Cys		Q53F77|Q5HYX8	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N	p.R50C	ENST00000326153.4	37	c.148		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.351|6.351	0.432831|0.432831	0.12045|0.12045	.|.	.|.	ENSG00000178605|ENSG00000178605	ENST00000326153|ENST00000400701	.|.	.|.	.|.	1.37|1.37	-2.74|-2.74	0.05932|0.05932	.|.	0.283379|.	0.29451|.	U|.	0.012115|.	T|T	0.29190|0.29190	0.0726|0.0726	.|.	.|.	.|.	.|.	.|.	.|.	D;D|.	0.89917|.	1.0;1.0|.	D;P|.	0.74674|.	0.984;0.852|.	T|T	0.39014|0.39014	-0.9634|-0.9634	7|3	0.66056|.	D|.	0.02|.	-14.9403|-14.9403	5.7631|5.7631	0.18211|0.18211	0.0:0.0:0.3457:0.6543|0.0:0.0:0.3457:0.6543	.|.	166;279|.	B4DPB2;O43824|.	.;GTPB6_HUMAN|.	C|L	50|49	.|.	ENSP00000316598:R50C|.	R|S	-|-	1|2	0|0	GTPBP6|GTPBP6	169514|169514	0.113000|0.113000	0.22115|0.22115	0.008000|0.008000	0.14137|0.14137	0.366000|0.366000	0.29705|0.29705	1.348000|1.348000	0.33987|0.33987	-0.599000|-0.599000	0.05798|0.05798	0.100000|0.100000	0.15512|0.15512	CGC|TCG	GTPBP6	-	NULL	ENSG00000178605		0.622	GTPBP6-201	KNOWN	basic|appris_candidate_longest	protein_coding	GTPBP6	HGNC	protein_coding		43	0.00	0	G	NM_012227		229514	229514	-1	no_start_codon	ENST00000326153	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.005	A
HACE1	57531	genome.wustl.edu	37	6	105291170	105291170	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:105291170C>A	ENST00000262903.4	-	5	606	c.330G>T	c.(328-330)caG>caT	p.Q110H	RP11-809N15.2_ENST00000422930.2_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.Q110H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	110					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TACATTTCTTCTGCCTGAAAA	0.299																																						dbGAP											0													106.0	119.0	114.0					6																	105291170		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.330G>T	6.37:g.105291170C>A	ENSP00000262903:p.Gln110His		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.Q110H	ENST00000262903.4	37	c.330	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327634	0.41197	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.62788	0.05;0.05;0.0;0.05	5.92	3.12	0.35913	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	N	0.02296	-0.605	0.58432	D	0.999999	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	T	0.55283	-0.8165	10	0.45353	T	0.12	.	10.3503	0.43931	0.0:0.7808:0.0:0.2192	.	110;110	E9PGP0;Q8IYU2	.;HACE1_HUMAN	H	110;110;110;76	ENSP00000262903:Q110H;ENSP00000358121:Q110H;ENSP00000429765:Q110H;ENSP00000427901:Q76H	ENSP00000262903:Q110H	Q	-	3	2	HACE1	105397863	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.519000	0.53458	0.367000	0.24454	0.650000	0.86243	CAG	HACE1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000085382		0.299	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	69	0.00	0	C	XM_045095		105291170	105291170	-1	no_errors	ENST00000262903	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	A
HBP1	26959	genome.wustl.edu	37	7	106840607	106840607	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:106840607C>G	ENST00000222574.4	+	10	1574	c.1388C>G	c.(1387-1389)gCc>gGc	p.A463G	HBP1_ENST00000485846.1_Missense_Mutation_p.A463G|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000468410.1_Missense_Mutation_p.A463G	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	463					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TTTTACAGAGCCATAAGTGTG	0.353																																						dbGAP											0													93.0	90.0	91.0					7																	106840607		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1388C>G	7.37:g.106840607C>G	ENSP00000222574:p.Ala463Gly		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily	p.A463G	ENST00000222574.4	37	c.1388	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910601	0.92107	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846	D;D;D	0.98329	-4.87;-4.87;-4.87	5.36	5.36	0.76844	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	L	0.56769	1.78	0.80722	D	1	D;B;D	0.65815	0.977;0.214;0.995	P;B;D	0.65573	0.895;0.062;0.936	D	0.98974	1.0802	10	0.48119	T	0.1	-2.49	19.4568	0.94895	0.0:1.0:0.0:0.0	.	473;463;463	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	G	463	ENSP00000420500:A463G;ENSP00000222574:A463G;ENSP00000418738:A463G	ENSP00000222574:A463G	A	+	2	0	HBP1	106627843	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.666000	0.83877	2.673000	0.90976	0.650000	0.86243	GCC	HBP1	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000105856		0.353	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	110	0.00	0	C	NM_012257		106840607	106840607	+1	no_errors	ENST00000222574	ensembl	human	known	69_37n	missense	91	25.41	31	SNP	1.000	G
HCST	10870	genome.wustl.edu	37	19	36394703	36394703	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:36394703C>T	ENST00000246551.4	+	3	253	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	HCST_ENST00000437550.2_Silent_p.L47L|NFKBID_ENST00000606253.1_5'Flank|NFKBID_ENST00000352614.2_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	47					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCTCTCTCTGCCGCTCCT	0.682																																						dbGAP											0													36.0	32.0	33.0					19																	36394703		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.139C>T	19.37:g.36394703C>T			Q9UBS1|Q9Y3Y0	Silent	SNP	pfam_DAP10	p.L47	ENST00000246551.4	37	c.139	CCDS32998.1	19																																																																																			HCST	-	pfam_DAP10	ENSG00000126264		0.682	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HCST	HGNC	protein_coding	OTTHUMT00000109520.3	31	0.00	0	C	NM_014266		36394703	36394703	+1	no_errors	ENST00000246551	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.061	T
HDX	139324	genome.wustl.edu	37	X	83724310	83724310	+	Missense_Mutation	SNP	T	T	G	rs199690051		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:83724310T>G	ENST00000297977.5	-	3	532	c.421A>C	c.(421-423)Aca>Cca	p.T141P	HDX_ENST00000506585.2_Missense_Mutation_p.T83P|HDX_ENST00000373177.2_Missense_Mutation_p.T141P	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	141						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTAGTGGCTGTTTTCTGAATA	0.373																																					Pancreas(53;231 1169 36156 43751 51139)	dbGAP											0													194.0	168.0	177.0					X																	83724310		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.421A>C	X.37:g.83724310T>G	ENSP00000297977:p.Thr141Pro		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.T141P	ENST00000297977.5	37	c.421	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	T	6.448	0.450828	0.12223	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.41065	1.55;1.56;1.55;1.01	4.75	2.43	0.29744	.	0.485525	0.21644	N	0.071284	T	0.22244	0.0536	N	0.17082	0.46	0.24121	N	0.995808	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.37606	T	0.19	-25.3077	4.742	0.13017	0.0:0.2167:0.3699:0.4134	.	141	Q7Z353	HDX_HUMAN	P	141;83;141;83	ENSP00000297977:T141P;ENSP00000362272:T83P;ENSP00000423670:T141P;ENSP00000387790:T83P	ENSP00000297977:T141P	T	-	1	0	HDX	83610966	0.997000	0.39634	0.984000	0.44739	0.910000	0.53928	1.007000	0.29860	0.760000	0.33108	0.417000	0.27973	ACA	HDX	-	NULL	ENSG00000165259		0.373	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	243	0.00	0	T	NM_144657		83724310	83724310	-1	no_errors	ENST00000297977	ensembl	human	known	69_37n	missense	129	24.12	41	SNP	0.965	G
MROH2B	133558	genome.wustl.edu	37	5	41065478	41065478	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:41065478C>T	ENST00000399564.4	-	4	766	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	106																	ACGAATTCATCTGGTAGCTCT	0.428																																						dbGAP											0													76.0	71.0	73.0					5																	41065478		1914	4133	6047	-	-	-	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.316G>A	5.37:g.41065478C>T	ENSP00000382476:p.Asp106Asn		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D106N	ENST00000399564.4	37	c.316	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669272	0.29604	.	.	ENSG00000171495	ENST00000399564	T	0.08193	3.12	6.16	-3.53	0.04667	Armadillo-type fold (1);	0.506488	0.19856	N	0.104535	T	0.04815	0.0130	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34775	-0.9815	10	0.17369	T	0.5	.	15.6298	0.76899	0.0:0.7054:0.0:0.2946	.	106	Q7Z745	HTRB2_HUMAN	N	106	ENSP00000382476:D106N	ENSP00000382476:D106N	D	-	1	0	HEATR7B2	41101235	0.001000	0.12720	0.385000	0.26158	0.900000	0.52787	-0.690000	0.05138	-0.869000	0.04052	-0.269000	0.10298	GAT	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.428	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	69	0.00	0	C	NM_173489		41065478	41065478	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	61	10.29	7	SNP	0.090	T
HECTD3	79654	genome.wustl.edu	37	1	45474006	45474006	+	Intron	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:45474006G>C	ENST00000372172.4	-	9	1310				HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.S19C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCATGGGTAGATAGACTGCA	0.527																																						dbGAP											0													90.0	93.0	92.0					1																	45474006		1977	4164	6141	-	-	-	SO:0001627	intron_variant	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1239-13C>G	1.37:g.45474006G>C			B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.S19C	ENST00000372172.4	37	c.56	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	G	9.086	1.000469	0.19121	.	.	ENSG00000126107	ENST00000372168	T	0.56611	0.45	4.67	-1.69	0.08186	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.09310	N	1	P	0.38788	0.647	B	0.36244	0.22	T	0.14008	-1.0488	7	.	.	.	.	1.6825	0.02835	0.3615:0.1265:0.3827:0.1293	.	19	Q5T447-2	.	C	19	ENSP00000361241:S19C	.	S	-	2	0	HECTD3	45246593	0.020000	0.18652	0.000000	0.03702	0.011000	0.07611	0.760000	0.26475	-0.388000	0.07797	0.655000	0.94253	TCT	HECTD3	-	NULL	ENSG00000126107		0.527	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	68	0.00	0	G	NM_024602		45474006	45474006	-1	no_errors	ENST00000372168	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.000	C
HELZ	9931	genome.wustl.edu	37	17	65147231	65147231	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:65147231G>A	ENST00000358691.5	-	18	2453	c.2287C>T	c.(2287-2289)Ctt>Ttt	p.L763F	HELZ_ENST00000580168.1_Missense_Mutation_p.L764F	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	763						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CGATGTTTAAGAATATCTTCT	0.458																																						dbGAP											0													158.0	159.0	159.0					17																	65147231		1944	4124	6068	-	-	-	SO:0001583	missense	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2287C>T	17.37:g.65147231G>A	ENSP00000351524:p.Leu763Phe		I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.L763F	ENST00000358691.5	37	c.2287	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433861	0.43224	.	.	ENSG00000198265	ENST00000358691	D	0.82526	-1.62	5.39	5.39	0.77823	.	0.124944	0.56097	D	0.000031	D	0.90817	0.7116	M	0.73753	2.245	0.58432	D	0.999998	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.926	D	0.91195	0.4987	10	0.59425	D	0.04	-17.2438	19.1599	0.93526	0.0:0.0:1.0:0.0	.	764;763	B7ZLW2;P42694	.;HELZ_HUMAN	F	763	ENSP00000351524:L763F	ENSP00000351524:L763F	L	-	1	0	HELZ	62577693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.029000	0.64121	2.521000	0.84997	0.650000	0.86243	CTT	HELZ	-	NULL	ENSG00000198265		0.458	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	78	0.00	0	G	NM_014877		65147231	65147231	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	missense	111	14.62	19	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63964894	63964894	+	Splice_Site	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:63964894C>G	ENST00000443617.2	-	39	7934		c.e39-1		RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGATCAATCTCTAGAAACCAA	0.383																																						dbGAP											0													68.0	68.0	68.0					15																	63964894		1914	4121	6035	-	-	-	SO:0001630	splice_region_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7847-1G>C	15.37:g.63964894C>G			Q8IW65	Splice_Site	SNP	-	e38-1	ENST00000443617.2	37	c.7847-1	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993708	0.74703	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61751947	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.325000	0.65869	2.780000	0.95670	0.655000	0.94253	.	HERC1	-	-	ENSG00000103657		0.383	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	65	0.00	0	C	NM_003922	Intron	63964894	63964894	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	splice_site	55	27.63	21	SNP	1.000	G
HERC2	8924	genome.wustl.edu	37	15	28517375	28517375	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:28517375C>T	ENST00000261609.7	-	9	1177	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGTCGCCCTCGGAGTGGGGT	0.532																																						dbGAP											0													78.0	63.0	68.0					15																	28517375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1069G>A	15.37:g.28517375C>T	ENSP00000261609:p.Glu357Lys			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.E357K	ENST00000261609.7	37	c.1069	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413497	0.62511	.	.	ENSG00000128731	ENST00000261609	T	0.38722	1.12	5.58	4.6	0.57074	.	0.056876	0.64402	D	0.000002	T	0.30727	0.0774	L	0.40543	1.245	0.58432	D	0.999995	P	0.34587	0.458	B	0.25614	0.062	T	0.08597	-1.0714	10	0.16896	T	0.51	.	15.9151	0.79508	0.0:0.8648:0.1352:0.0	.	357	O95714	HERC2_HUMAN	K	357	ENSP00000261609:E357K	ENSP00000261609:E357K	E	-	1	0	HERC2	26190970	1.000000	0.71417	0.271000	0.24616	0.037000	0.13140	4.715000	0.61909	2.641000	0.89580	0.650000	0.86243	GAG	HERC2	-	NULL	ENSG00000128731		0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	41	0.00	0	C	NM_004667		28517375	28517375	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	0.993	T
HERC1	8925	genome.wustl.edu	37	15	64017704	64017704	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:64017704C>T	ENST00000443617.2	-	18	3442	c.3355G>A	c.(3355-3357)Gaa>Aaa	p.E1119K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1119					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCAATTAGTTCTGGCCCTCCT	0.413																																						dbGAP											0													102.0	98.0	99.0					15																	64017704		1931	4120	6051	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3355G>A	15.37:g.64017704C>T	ENSP00000390158:p.Glu1119Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E1119K	ENST00000443617.2	37	c.3355	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194228	0.78902	.	.	ENSG00000103657	ENST00000443617	T	0.53857	0.6	5.34	5.34	0.76211	.	0.239159	0.34628	N	0.003820	T	0.39200	0.1069	N	0.19112	0.55	0.80722	D	1	P	0.34522	0.455	B	0.27076	0.076	T	0.29610	-1.0006	10	0.41790	T	0.15	.	19.4303	0.94760	0.0:1.0:0.0:0.0	.	1119	Q15751	HERC1_HUMAN	K	1119	ENSP00000390158:E1119K	ENSP00000390158:E1119K	E	-	1	0	HERC1	61804757	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.427000	0.80284	2.677000	0.91161	0.650000	0.86243	GAA	HERC1	-	NULL	ENSG00000103657		0.413	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	35	0.00	0	C	NM_003922		64017704	64017704	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	T
GFM2	84340	genome.wustl.edu	37	5	74017042	74017042	+	3'UTR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:74017042C>G	ENST00000296805.3	-	0	3235				GFM2_ENST00000515125.1_5'Flank|GFM2_ENST00000345239.2_3'UTR|HEXB_ENST00000509579.1_3'UTR|HEXB_ENST00000511181.1_3'UTR|HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000261416.7_3'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GTACTACAATCAACTTTATTT	0.313																																						dbGAP											0													41.0	38.0	39.0					5																	74017042		2201	4297	6498	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.*438G>C	5.37:g.74017042C>G				RNA	SNP	-	NULL	ENST00000296805.3	37	NULL	CCDS4023.1	5																																																																																			HEXB	-	-	ENSG00000049860		0.313	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219860.2	25	0.00	0	C	NM_032380		74017042	74017042	+1	no_errors	ENST00000513539	ensembl	human	known	69_37n	rna	50	16.67	10	SNP	0.616	G
HEXDC	284004	genome.wustl.edu	37	17	80386446	80386446	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:80386446C>G	ENST00000327949.9	+	3	218	c.207C>G	c.(205-207)atC>atG	p.I69M	HEXDC_ENST00000337014.6_Missense_Mutation_p.I69M|HEXDC_ENST00000577944.1_Missense_Mutation_p.I69M			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	69					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCTCTGAAATCAAAGAGATCT	0.527																																						dbGAP											0													112.0	114.0	113.0					17																	80386446		1930	4143	6073	-	-	-	SO:0001583	missense	0			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.207C>G	17.37:g.80386446C>G	ENSP00000332634:p.Ile69Met		B7UUP6|Q8IYN4|Q8TE81	Nonsense_Mutation	SNP	NULL	p.S63*	ENST00000327949.9	37	c.188		17	.	.	.	.	.	.	.	.	.	.	C	0.903	-0.721507	0.03182	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.96491	-4.03;-4.03	5.35	0.995	0.19838	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.243968	0.34906	N	0.003591	D	0.97151	0.9069	M	0.82323	2.585	0.21604	N	0.999627	D;D	0.65815	0.993;0.995	D;D	0.71656	0.95;0.974	D	0.91849	0.5490	10	0.56958	D	0.05	-20.4509	5.6078	0.17389	0.0:0.497:0.2648:0.2382	.	69;69	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	M	69	ENSP00000337854:I69M;ENSP00000332634:I69M	ENSP00000332634:I69M	I	+	3	3	HEXDC	77979735	0.002000	0.14202	0.001000	0.08648	0.200000	0.23975	-0.138000	0.10374	-0.020000	0.14032	0.563000	0.77884	ATC	HEXDC	-	NULL	ENSG00000169660		0.527	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	83	0.00	0	C	NM_173620		80386446	80386446	+1	no_start_codon	ENST00000578775	ensembl	human	known	69_37n	nonsense	58	10.77	7	SNP	0.049	G
HGSNAT	138050	genome.wustl.edu	37	8	43033331	43033331	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:43033331C>T	ENST00000458501.2	+	10	1050	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Silent_p.I322I|HGSNAT_ENST00000297798.7_5'Flank			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	350					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TCCTGTTAATCTGCATAGGAA	0.373																																						dbGAP											0													206.0	199.0	201.0					8																	43033331		1835	4082	5917	-	-	-	SO:0001819	synonymous_variant	0				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1050C>T	8.37:g.43033331C>T			B4E2V0	Silent	SNP	pfam_DUF1624	p.I350	ENST00000458501.2	37	c.1050		8																																																																																			HGSNAT	-	pfam_DUF1624	ENSG00000165102		0.373	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		179	0.00	0	C	XM_372038		43033331	43033331	+1	no_errors	ENST00000458501	ensembl	human	known	69_37n	silent	150	23.62	47	SNP	0.061	T
HIST3H2BB	128312	genome.wustl.edu	37	1	228646044	228646044	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:228646044G>A	ENST00000369160.2	+	1	237	c.214G>A	c.(214-216)Gag>Aag	p.E72K	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	72					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				TGACATCTTCGAGCGCATCGC	0.612																																						dbGAP											0													85.0	80.0	82.0					1																	228646044		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.214G>A	1.37:g.228646044G>A	ENSP00000375736:p.Glu72Lys		A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E72K	ENST00000369160.2	37	c.214	CCDS1574.1	1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.244165	0.79912	.	.	ENSG00000196890	ENST00000369160	T	0.27402	1.67	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.46145	D	0.000307	T	0.43678	0.1258	M	0.91140	3.18	0.58432	D	0.999998	B	0.22146	0.065	B	0.18561	0.022	T	0.55341	-0.8156	10	0.62326	D	0.03	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	72	Q8N257	H2B3B_HUMAN	K	72	ENSP00000375736:E72K	ENSP00000375736:E72K	E	+	1	0	HIST3H2BB	226712667	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.988000	0.93501	2.491000	0.84063	0.586000	0.80456	GAG	HIST3H2BB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196890		0.612	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2BB	HGNC	protein_coding	OTTHUMT00000096597.1	101	0.00	0	G	NM_175055		228646044	228646044	+1	no_errors	ENST00000369160	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	A
HLA-DQA2	3118	genome.wustl.edu	37	6	32709262	32709262	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:32709262G>A	ENST00000374940.3	+	1	144	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	14					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CCCTCGCCCTGACTGCCGTGA	0.507																																						dbGAP											0													82.0	75.0	77.0					6																	32709262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.42G>A	6.37:g.32709262G>A			A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.L14	ENST00000374940.3	37	c.42	CCDS4753.1	6																																																																																			HLA-DQA2	-	NULL	ENSG00000237541		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	119	0.00	0	G	NM_020056		32709262	32709262	+1	no_errors	ENST00000374940	ensembl	human	known	69_37n	silent	85	24.78	28	SNP	0.191	A
HMCN1	83872	genome.wustl.edu	37	1	186120829	186120829	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:186120829C>T	ENST00000271588.4	+	95	15079	c.14850C>T	c.(14848-14850)ctC>ctT	p.L4950L	HMCN1_ENST00000367492.2_Silent_p.L4950L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4950	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTTTACCCTCACCAATGCAG	0.348																																						dbGAP											0													119.0	125.0	123.0					1																	186120829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14850C>T	1.37:g.186120829C>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L4950	ENST00000271588.4	37	c.14850	CCDS30956.1	1																																																																																			HMCN1	-	pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000143341		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	52	0.00	0	C	NM_031935		186120829	186120829	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	63	13.70	10	SNP	1.000	T
HNRNPU	3192	genome.wustl.edu	37	1	245019359	245019359	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:245019359C>G	ENST00000283179.9	-	11	2177	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	HNRNPU_ENST00000444376.2_Missense_Mutation_p.E653Q|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	672					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTTGCTTTCTTCCTTATAT	0.403																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													157.0	147.0	150.0					1																	245019359		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2014G>C	1.37:g.245019359C>G	ENSP00000283179:p.Glu672Gln		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.E672Q	ENST00000283179.9	37	c.2014	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.080961	0.94050	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.55930	0.5;0.49	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.981	D;D;D	0.75484	0.986;0.968;0.954	T	0.71686	-0.4518	10	0.56958	D	0.05	-18.6581	19.8463	0.96708	0.0:1.0:0.0:0.0	.	653;672;396	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	Q	653;672;597	ENSP00000393151:E653Q;ENSP00000283179:E672Q	ENSP00000283179:E672Q	E	-	1	0	HNRNPU	243085982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	2.688000	0.91661	0.655000	0.94253	GAA	HNRNPU	-	NULL	ENSG00000153187		0.403	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	156	0.00	0	C	NM_031844		245019359	245019359	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	missense	155	23.65	48	SNP	1.000	G
HNRNPU	3192	genome.wustl.edu	37	1	245020994	245020994	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:245020994C>T	ENST00000283179.9	-	8	1683	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	HNRNPU_ENST00000444376.2_Missense_Mutation_p.G488E|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	507					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTCCAGCTCCTGGCAAGCC	0.363																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													106.0	110.0	109.0					1																	245020994		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1520G>A	1.37:g.245020994C>T	ENSP00000283179:p.Gly507Glu		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.G507E	ENST00000283179.9	37	c.1520	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633289	0.87660	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	D;D	0.89552	-2.53;-2.53	6.03	4.18	0.49190	.	0.046539	0.85682	N	0.000000	D	0.94112	0.8112	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	D	0.94081	0.7344	10	0.87932	D	0	-14.4422	12.1169	0.53870	0.0:0.8141:0.1214:0.0645	.	432;488;507;231	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	E	488;507;432	ENSP00000393151:G488E;ENSP00000283179:G507E	ENSP00000283179:G507E	G	-	2	0	HNRNPU	243087617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	0.893000	0.36288	0.557000	0.71058	GGA	HNRNPU	-	pfam_Zeta_toxin_domain	ENSG00000153187		0.363	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	93	0.00	0	C	NM_031844		245020994	245020994	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	1.000	T
HNRNPLL	92906	genome.wustl.edu	37	2	38829676	38829676	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:38829676C>T	ENST00000449105.3	-	1	432	c.93G>A	c.(91-93)gaG>gaA	p.E31E	HNRNPLL_ENST00000409636.1_Silent_p.E26E|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000378915.3_Silent_p.E31E|HNRNPLL_ENST00000608859.1_Silent_p.E31E|AC011247.3_ENST00000457097.1_RNA|HNRNPLL_ENST00000410076.1_Silent_p.E26E|HNRNPLL_ENST00000358367.4_Silent_p.E31E|HNRNPLL_ENST00000409328.1_Silent_p.E31E			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	31					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										AGTAGTCGATCTCCCCCTCCT	0.706																																						dbGAP											0													28.0	21.0	24.0					2																	38829676		2148	4230	6378	-	-	-	SO:0001819	synonymous_variant	0			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.93G>A	2.37:g.38829676C>T			Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E31	ENST00000449105.3	37	c.93		2																																																																																			HNRPLL	-	NULL	ENSG00000143889		0.706	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	HNRPLL	HGNC	protein_coding	OTTHUMT00000219887.2	29	0.00	0	C	NM_138394		38829676	38829676	-1	no_errors	ENST00000449105	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	1.000	T
HNRNPLL	92906	genome.wustl.edu	37	2	38829687	38829687	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:38829687C>T	ENST00000449105.3	-	1	421	c.82G>A	c.(82-84)Gag>Aag	p.E28K	HNRNPLL_ENST00000409636.1_Missense_Mutation_p.E23K|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.E28K|HNRNPLL_ENST00000608859.1_Missense_Mutation_p.E28K|AC011247.3_ENST00000457097.1_RNA|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.E23K|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.E28K|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.E28K			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	28					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										TCCCCCTCCTCGGTCTTGAGA	0.721																																						dbGAP											0													28.0	21.0	23.0					2																	38829687		2160	4247	6407	-	-	-	SO:0001583	missense	0			BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.82G>A	2.37:g.38829687C>T	ENSP00000390625:p.Glu28Lys		Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E28K	ENST00000449105.3	37	c.82		2	.	.	.	.	.	.	.	.	.	.	C	36	5.893265	0.97074	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076	.	.	.	5.06	5.06	0.68205	.	0.000000	0.45606	D	0.000344	T	0.46014	0.1371	N	0.08118	0	0.36033	D	0.839542	P;P	0.44090	0.826;0.826	P;P	0.52189	0.692;0.692	T	0.59188	-0.7501	9	0.44086	T	0.13	.	15.3751	0.74598	0.0:1.0:0.0:0.0	.	23;28	C9J9G0;D6W592	.;.	K	28;23;28;28;28;23	.	ENSP00000351136:E28K	E	-	1	0	HNRPLL	38683191	0.996000	0.38824	0.998000	0.56505	0.966000	0.64601	2.065000	0.41442	2.366000	0.80165	0.561000	0.74099	GAG	HNRPLL	-	NULL	ENSG00000143889		0.721	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	HNRPLL	HGNC	protein_coding	OTTHUMT00000219887.2	28	0.00	0	C	NM_138394		38829687	38829687	-1	no_errors	ENST00000449105	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.999	T
HOXD4	3233	genome.wustl.edu	37	2	177016487	177016487	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:177016487G>C	ENST00000306324.3	+	1	538	c.126G>C	c.(124-126)caG>caC	p.Q42H	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	42					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGGCGCGCAGGGCGCAGACT	0.706																																						dbGAP											0													19.0	22.0	21.0					2																	177016487		2186	4233	6419	-	-	-	SO:0001583	missense	0				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.126G>C	2.37:g.177016487G>C	ENSP00000302548:p.Gln42His		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.Q42H	ENST00000306324.3	37	c.126	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304027	0.23736	.	.	ENSG00000170166	ENST00000306324	T	0.76839	-1.05	4.42	2.61	0.31194	.	2.172880	0.03095	N	0.160326	T	0.79269	0.4417	M	0.70787	2.145	0.58432	D	0.999997	P	0.43662	0.814	B	0.39771	0.309	T	0.66508	-0.5906	10	0.62326	D	0.03	.	10.5331	0.44988	0.1603:0.0:0.8397:0.0	.	42	P09016	HXD4_HUMAN	H	42	ENSP00000302548:Q42H	ENSP00000302548:Q42H	Q	+	3	2	HOXD4	176724733	1.000000	0.71417	0.561000	0.28357	0.438000	0.31896	5.413000	0.66399	0.410000	0.25675	0.561000	0.74099	CAG	HOXD4	-	NULL	ENSG00000170166		0.706	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	8	0.00	0	G			177016487	177016487	+1	no_errors	ENST00000306324	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	1.000	C
HP1BP3	50809	genome.wustl.edu	37	1	21076289	21076289	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:21076289C>T	ENST00000312239.5	-	10	1207	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	HP1BP3_ENST00000375003.2_Silent_p.P204P	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	356	H15 3. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AGCAGGTCTTCGGCTCATTCA	0.448																																						dbGAP											0													122.0	115.0	117.0					1																	21076289		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1068G>A	1.37:g.21076289C>T			A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5	p.P356	ENST00000312239.5	37	c.1068	CCDS30621.1	1																																																																																			HP1BP3	-	pfam_Histone_H1/H5,smart_Histone_H1/H5	ENSG00000127483		0.448	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	94	0.00	0	C	NM_016287		21076289	21076289	-1	no_errors	ENST00000312239	ensembl	human	known	69_37n	silent	42	17.65	9	SNP	1.000	T
HPS4	89781	genome.wustl.edu	37	22	26859979	26859979	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:26859979C>T	ENST00000398145.2	-	11	2233	c.1617G>A	c.(1615-1617)gtG>gtA	p.V539V	HPS4_ENST00000402105.3_Silent_p.V534V|HPS4_ENST00000336873.5_Silent_p.V539V|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Silent_p.V552V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	539					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GATTCATCCTCACGAGCCCCA	0.592									Hermansky-Pudlak syndrome																													dbGAP											0													71.0	67.0	68.0					22																	26859979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1617G>A	22.37:g.26859979C>T			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	NULL	p.V552	ENST00000398145.2	37	c.1656	CCDS13835.1	22																																																																																			HPS4	-	NULL	ENSG00000100099		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	39	0.00	0	C	NM_022081		26859979	26859979	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	0.522	T
HPSE2	60495	genome.wustl.edu	37	10	100503657	100503657	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:100503657G>C	ENST00000370552.3	-	4	826	c.767C>G	c.(766-768)tCt>tGt	p.S256C	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S256C|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	256					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CAGTTCCCAAGAAATGTTGTA	0.413																																						dbGAP											0													130.0	123.0	125.0					10																	100503657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.767C>G	10.37:g.100503657G>C	ENSP00000359583:p.Ser256Cys		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.S256C	ENST00000370552.3	37	c.767	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380979	0.82792	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.32023	1.47;1.47	5.68	5.68	0.88126	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.56768	-0.7924	10	0.72032	D	0.01	-7.3362	20.1553	0.98111	0.0:0.0:1.0:0.0	.	256;256	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	C	256	ENSP00000359583:S256C;ENSP00000359577:S256C	ENSP00000359577:S256C	S	-	2	0	HPSE2	100493647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.329000	0.96413	2.838000	0.97847	0.591000	0.81541	TCT	HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.413	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	62	0.00	0	G	NM_021828		100503657	100503657	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	missense	58	27.16	22	SNP	1.000	C
HTR2C	3358	genome.wustl.edu	37	X	114141977	114141977	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:114141977G>A	ENST00000276198.1	+	6	2104	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.*459*	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCAGTGTGTGAGAAAGAACA	0.378																																						dbGAP											0													92.0	84.0	87.0					X																	114141977		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1376G>A	X.37:g.114141977G>A			B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.*459	ENST00000276198.1	37	c.1376	CCDS14564.1	X																																																																																			HTR2C	-	NULL	ENSG00000147246		0.378	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	31	0.00	0	G	NM_000868		114141977	114141977	+1	no_errors	ENST00000276198	ensembl	human	known	69_37n	silent	18	40.00	12	SNP	0.900	A
HTT	3064	genome.wustl.edu	37	4	3190748	3190748	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:3190748G>A	ENST00000355072.5	+	40	5441	c.5296G>A	c.(5296-5298)Gag>Aag	p.E1766K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1766					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAAATGAGTGAGCAGCAACA	0.393																																						dbGAP											0													199.0	186.0	190.0					4																	3190748		1948	4153	6101	-	-	-	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5296G>A	4.37:g.3190748G>A	ENSP00000347184:p.Glu1766Lys		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E1766K	ENST00000355072.5	37	c.5296	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	31	5.083582	0.94050	.	.	ENSG00000197386	ENST00000355072	T	0.05996	3.36	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.24812	0.0602	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.02844	-1.1103	10	0.18276	T	0.48	.	19.2953	0.94119	0.0:0.0:1.0:0.0	.	1766	P42858	HD_HUMAN	K	1766	ENSP00000347184:E1766K	ENSP00000347184:E1766K	E	+	1	0	HTT	3160546	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	6.460000	0.73518	2.628000	0.89032	0.655000	0.94253	GAG	HTT	-	NULL	ENSG00000197386		0.393	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	116	0.00	0	G	NM_002111		3190748	3190748	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	missense	71	31.73	33	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	71098709	71098709	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:71098709C>G	ENST00000393567.2	-	16	2260	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	HYDIN_ENST00000541601.1_Missense_Mutation_p.E721Q|HYDIN_ENST00000448691.1_Missense_Mutation_p.E704Q|HYDIN_ENST00000448089.2_Missense_Mutation_p.E704Q|HYDIN_ENST00000321489.5_Missense_Mutation_p.E704Q|HYDIN_ENST00000538248.1_Missense_Mutation_p.E731Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	704					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGTCCACCTCTGTATTGACC	0.502																																						dbGAP											0													31.0	29.0	30.0					16																	71098709		2197	4297	6494	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2110G>C	16.37:g.71098709C>G	ENSP00000377197:p.Glu704Gln		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.E704Q	ENST00000393567.2	37	c.2110	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860770	0.51482	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31	4.8	4.8	0.61643	.	0.272209	0.18781	U	0.131336	T	0.12433	0.0302	M	0.71581	2.175	0.80722	D	1	B;B;B;D	0.53745	0.061;0.061;0.061;0.962	B;B;B;P	0.52481	0.047;0.047;0.047;0.7	T	0.12811	-1.0533	10	0.12766	T	0.61	.	7.5072	0.27551	0.0:0.8149:0.0:0.1851	.	731;721;704;704	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	Q	704;704;704;704;704;731;721	ENSP00000377197:E704Q;ENSP00000398544:E704Q;ENSP00000394826:E704Q;ENSP00000314736:E704Q;ENSP00000444970:E731Q;ENSP00000437341:E721Q	ENSP00000313052:E704Q	E	-	1	0	HYDIN	69656210	0.896000	0.30565	0.984000	0.44739	0.712000	0.41017	1.743000	0.38258	2.219000	0.72066	0.505000	0.49811	GAG	HYDIN	-	NULL	ENSG00000157423		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	86	0.00	0	C			71098709	71098709	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	27	31.71	13	SNP	0.963	G
IBSP	3381	genome.wustl.edu	37	4	88723881	88723881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:88723881C>T	ENST00000226284.5	+	4	248	c.181C>T	c.(181-183)Cag>Tag	p.Q61*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	61					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATTTCCAGTTCAGGTAAATAT	0.269																																						dbGAP											0													34.0	35.0	34.0					4																	88723881		2198	4283	6481	-	-	-	SO:0001587	stop_gained	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.181C>T	4.37:g.88723881C>T	ENSP00000226284:p.Gln61*			Nonsense_Mutation	SNP	pfam_BSP_II	p.Q61*	ENST00000226284.5	37	c.181	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274739	0.80580	.	.	ENSG00000029559	ENST00000226284	.	.	.	5.58	5.58	0.84498	.	0.343223	0.25219	N	0.032252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.0748	0.72069	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000226284:Q61X	Q	+	1	0	IBSP	88942905	1.000000	0.71417	0.934000	0.37439	0.478000	0.33099	3.949000	0.56668	2.631000	0.89168	0.467000	0.42956	CAG	IBSP	-	pfam_BSP_II	ENSG00000029559		0.269	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	40	0.00	0	C			88723881	88723881	+1	no_errors	ENST00000226284	ensembl	human	known	69_37n	nonsense	41	18.00	9	SNP	0.995	T
IDI1	3422	genome.wustl.edu	37	10	1089321	1089321	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:1089321C>T	ENST00000381344.3	-	3	492	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	IDI2-AS1_ENST00000536039.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	52	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		ACTAAAAGCTCGATGCAATAA	0.338																																						dbGAP											0													80.0	81.0	81.0					10																	1089321		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.326G>A	10.37:g.1089321C>T	ENSP00000370748:p.Arg109Gln		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.R109Q	ENST00000381344.3	37	c.326	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376228	0.61735	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	T;T;T	0.08896	3.04;3.04;3.04	4.57	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54748	-0.8247	10	0.87932	D	0	-2.3984	12.4987	0.55944	0.0:0.9162:0.0:0.0838	.	109	Q13907-2	.	Q	109;23;52	ENSP00000370748:R109Q;ENSP00000404771:R23Q;ENSP00000401879:R52Q	ENSP00000370748:R109Q	R	-	2	0	IDI1	1079321	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	6.713000	0.74686	1.032000	0.39892	-0.229000	0.12294	CGA	IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000067064		0.338	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	70	0.00	0	C	NM_004508		1089321	1089321	-1	no_errors	ENST00000381344	ensembl	human	known	69_37n	missense	59	23.38	18	SNP	1.000	T
IDE	3416	genome.wustl.edu	37	10	94291539	94291539	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:94291539C>T	ENST00000265986.6	-	4	683	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	209					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GTTTAGGATTCCCTGTAGCTT	0.398																																						dbGAP											0													86.0	83.0	84.0					10																	94291539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.627G>A	10.37:g.94291539C>T			B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.G209	ENST00000265986.6	37	c.627	CCDS7421.1	10																																																																																			IDE	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	ENSG00000119912		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	75	0.00	0	C	NM_004969		94291539	94291539	-1	no_errors	ENST00000265986	ensembl	human	known	69_37n	silent	61	23.46	19	SNP	0.988	T
IGF2R	3482	genome.wustl.edu	37	6	160482885	160482885	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:160482885C>T	ENST00000356956.1	+	25	3655	c.3507C>T	c.(3505-3507)atC>atT	p.I1169I		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1169					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTTTGAGCATCATGTATGTCA	0.532																																						dbGAP											0													165.0	151.0	156.0					6																	160482885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3507C>T	6.37:g.160482885C>T			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.I1169	ENST00000356956.1	37	c.3507	CCDS5273.1	6																																																																																			IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	67	0.00	0	C	NM_000876		160482885	160482885	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	silent	51	35.00	28	SNP	0.425	T
IGHV3-13	28449	genome.wustl.edu	37	14	106586182	106586182	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:106586182C>T	ENST00000390602.2	-	0	382									immunoglobulin heavy variable 3-13																		TCAGGCTGTTCATTTGAAGAT	0.512																																						dbGAP											0													101.0	96.0	97.0					14																	106586182		1888	4112	6000	-	-	-			0			X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586182C>T				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.M101I	ENST00000390602.2	37	c.303		14																																																																																			IGHV3-13	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211942		0.512	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-13	HGNC	IG_V_gene	OTTHUMT00000325683.1	65	0.00	0	C	NG_001019		106586182	106586182	-1	no_stop_codon	ENST00000390602	ensembl	human	known	69_37n	missense	55	30.86	25	SNP	0.827	T
IL12A	3592	genome.wustl.edu	37	3	159713202	159713202	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:159713202C>T	ENST00000305579.2	+	7	925	c.618C>T	c.(616-618)ttC>ttT	p.F206F	IL12A-AS1_ENST00000462431.1_RNA|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.F192F|IL12A_ENST00000480787.1_Silent_p.F168F	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	172					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCTGAATTTCAACAGTGAGA	0.373																																						dbGAP											0													95.0	94.0	94.0					3																	159713202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.618C>T	3.37:g.159713202C>T			Q96QZ1	Silent	SNP	pfam_IL12,superfamily_4_helix_cytokine-like_core	p.F206	ENST00000305579.2	37	c.618	CCDS3187.1	3																																																																																			IL12A	-	pfam_IL12,superfamily_4_helix_cytokine-like_core	ENSG00000168811		0.373	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12A	HGNC	protein_coding	OTTHUMT00000352602.2	72	0.00	0	C	NM_000882		159713202	159713202	+1	no_errors	ENST00000305579	ensembl	human	known	69_37n	silent	45	28.57	18	SNP	0.019	T
IL16	3603	genome.wustl.edu	37	15	81591674	81591674	+	Intron	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:81591674C>A	ENST00000302987.4	+	13	2053				IL16_ENST00000394652.2_Intron|IL16_ENST00000394660.2_Intron|IL16_ENST00000560230.1_Intron			Q14005	IL16_HUMAN	interleukin 16						immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAGAAAAGTCACTGTATGAT	0.483																																						dbGAP											0													155.0	166.0	163.0					15																	81591674		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2054-47C>A	15.37:g.81591674C>A			A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	NULL	p.H41N	ENST00000302987.4	37	c.121	CCDS42069.1	15																																																																																			IL16	-	NULL	ENSG00000172349		0.483	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	19	0.00	0	C	NM_172217		81591674	81591674	+1	no_start_codon	ENST00000558857	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.000	A
IL1RAP	3556	genome.wustl.edu	37	3	190373869	190373869	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:190373869C>G	ENST00000317757.3	+	12	1743	c.1537C>G	c.(1537-1539)Ctt>Gtt	p.L513V	IL1RAP_ENST00000443369.2_Missense_Mutation_p.L513V	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	514	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCCAGGCATTCTTCAGCTCAA	0.502																																						dbGAP											0													75.0	70.0	71.0					3																	190373869		692	1591	2283	-	-	-	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1537C>G	3.37:g.190373869C>G	ENSP00000314807:p.Leu513Val		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.L513V	ENST00000317757.3	37	c.1537	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317579	0.40996	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.08896	3.04;3.04	5.51	1.61	0.23674	.	.	.	.	.	T	0.08223	0.0205	L	0.36672	1.1	0.58432	D	0.999994	P	0.45044	0.849	P	0.47251	0.542	T	0.34750	-0.9816	9	0.66056	D	0.02	.	2.2204	0.03971	0.1385:0.5145:0.1268:0.2203	.	513	Q9NPH3-5	.	V	513	ENSP00000408893:L513V;ENSP00000314807:L513V	ENSP00000314807:L513V	L	+	1	0	IL1RAP	191856563	0.500000	0.26091	0.934000	0.37439	0.985000	0.73830	0.290000	0.18975	0.003000	0.14656	0.561000	0.74099	CTT	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000196083		0.502	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	44	0.00	0	C			190373869	190373869	+1	no_errors	ENST00000443369	ensembl	human	known	69_37n	missense	44	18.18	10	SNP	0.847	G
INTS10	55174	genome.wustl.edu	37	8	19703292	19703292	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:19703292C>G	ENST00000397977.3	+	16	2358	c.1960C>G	c.(1960-1962)Caa>Gaa	p.Q654E		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	654					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACTACCCAATCAAGGAATGCT	0.398																																						dbGAP											0													114.0	105.0	108.0					8																	19703292		1895	4123	6018	-	-	-	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1960C>G	8.37:g.19703292C>G	ENSP00000381064:p.Gln654Glu		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.Q654E	ENST00000397977.3	37	c.1960	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.091678|4.091678	0.76756|0.76756	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977	.|T	.|0.41758	.|0.99	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58652|0.58652	0.2137|0.2137	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|P	.|0.52577	.|0.954	.|D	.|0.67900	.|0.954	T|T	0.49908|0.49908	-0.8889|-0.8889	5|9	.|.	.|.	.|.	-19.8556|-19.8556	18.7475|18.7475	0.91799|0.91799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|654	.|Q9NVR2	.|INT10_HUMAN	M|E	90|654	.|ENSP00000381064:Q654E	.|.	I|Q	+|+	3|1	3|0	INTS10|INTS10	19747572|19747572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.487000|7.487000	0.81328|0.81328	2.774000|2.774000	0.95407|0.95407	0.650000|0.650000	0.86243|0.86243	ATC|CAA	INTS10	-	NULL	ENSG00000104613		0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	81	0.00	0	C	NM_018142		19703292	19703292	+1	no_errors	ENST00000397977	ensembl	human	known	69_37n	missense	51	32.00	24	SNP	1.000	G
INTS12	57117	genome.wustl.edu	37	4	106604111	106604111	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:106604111G>A	ENST00000451321.2	-	7	1647	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S	INTS12_ENST00000394735.1_Missense_Mutation_p.P390S|INTS12_ENST00000340139.5_Missense_Mutation_p.P390S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	390	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AAACTACTTGGACTAGGAAGA	0.448																																						dbGAP											0													187.0	178.0	181.0					4																	106604111		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1168C>T	4.37:g.106604111G>A	ENSP00000415433:p.Pro390Ser		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P390S	ENST00000451321.2	37	c.1168	CCDS3671.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296823	0.81025	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.47869	0.83;0.83;0.83	5.16	5.16	0.70880	.	0.260834	0.38720	N	0.001592	T	0.32763	0.0840	N	0.17082	0.46	0.49130	D	0.999759	P	0.44734	0.842	B	0.36922	0.236	T	0.10917	-1.0609	10	0.27785	T	0.31	-17.0501	18.9985	0.92822	0.0:0.0:1.0:0.0	.	390	Q96CB8	INT12_HUMAN	S	390	ENSP00000378221:P390S;ENSP00000340737:P390S;ENSP00000415433:P390S	ENSP00000340737:P390S	P	-	1	0	INTS12	106823560	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.558000	0.86282	0.563000	0.77884	CCA	INTS12	-	NULL	ENSG00000138785		0.448	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	88	0.00	0	G	NM_020395		106604111	106604111	-1	no_errors	ENST00000340139	ensembl	human	known	69_37n	missense	77	24.51	25	SNP	1.000	A
IPP	3652	genome.wustl.edu	37	1	46195372	46195372	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:46195372G>C	ENST00000396478.3	-	4	896	c.794C>G	c.(793-795)tCt>tGt	p.S265C		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	265						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTCTTTGGGAGATTTGCATAC	0.373																																						dbGAP											0													112.0	114.0	113.0					1																	46195372		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.794C>G	1.37:g.46195372G>C	ENSP00000379739:p.Ser265Cys		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S265C	ENST00000396478.3	37	c.794	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257213	0.59321	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.75260	-0.73;-0.92	5.81	4.9	0.64082	.	0.107032	0.64402	D	0.000003	T	0.57873	0.2083	N	0.08118	0	0.58432	D	0.999997	P;D	0.57257	0.926;0.979	B;B	0.43155	0.285;0.41	T	0.67906	-0.5549	10	0.87932	D	0	.	14.3147	0.66440	0.0708:0.0:0.9292:0.0	.	265;265	Q9Y573;A2A6V3	IPP_HUMAN;.	C	265	ENSP00000353024:S265C;ENSP00000379739:S265C	ENSP00000353024:S265C	S	-	2	0	IPP	45967959	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.520000	0.81821	2.758000	0.94735	0.561000	0.74099	TCT	IPP	-	pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.373	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	116	0.00	0	G	NM_005897		46195372	46195372	-1	no_errors	ENST00000396478	ensembl	human	known	69_37n	missense	81	12.90	12	SNP	1.000	C
IQCH	64799	genome.wustl.edu	37	15	67692531	67692531	+	Missense_Mutation	SNP	G	G	A	rs146418351		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:67692531G>A	ENST00000335894.4	+	14	2051	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	IQCH_ENST00000358767.3_Missense_Mutation_p.R398Q|IQCH_ENST00000546225.1_Missense_Mutation_p.R319Q|IQCH_ENST00000360277.4_Missense_Mutation_p.R323Q	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	662										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTGAGTTCCGAGGAAATGGG	0.453																																						dbGAP											0													132.0	122.0	126.0					15																	67692531		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1985G>A	15.37:g.67692531G>A	ENSP00000336861:p.Arg662Gln		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R662Q	ENST00000335894.4	37	c.1985	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450143	0.26074	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.41065	1.01;1.02;1.01;1.01	5.24	2.11	0.27256	.	0.314324	0.33005	N	0.005397	T	0.23572	0.0570	N	0.22421	0.69	0.23685	N	0.997111	B;B;B	0.21520	0.033;0.057;0.01	B;B;B	0.13407	0.009;0.009;0.002	T	0.16335	-1.0406	10	0.18710	T	0.47	-1.0859	8.0288	0.30453	0.1538:0.1276:0.7186:0.0	.	319;323;662	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	Q	398;319;662;323	ENSP00000351617:R398Q;ENSP00000444118:R319Q;ENSP00000336861:R662Q;ENSP00000353419:R323Q	ENSP00000336861:R662Q	R	+	2	0	IQCH	65479585	1.000000	0.71417	0.982000	0.44146	0.473000	0.32948	4.939000	0.63526	0.507000	0.28148	-1.058000	0.02302	CGA	IQCH	-	NULL	ENSG00000103599		0.453	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	92	0.00	0	G	NM_022784		67692531	67692531	+1	no_errors	ENST00000335894	ensembl	human	known	69_37n	missense	79	28.18	31	SNP	1.000	A
IQGAP3	128239	genome.wustl.edu	37	1	156521568	156521568	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:156521568C>G	ENST00000361170.2	-	15	1673	c.1663G>C	c.(1663-1665)Gat>Cat	p.D555H		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	555					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGACATCATCTAGGCCAGCT	0.567																																						dbGAP											0													78.0	70.0	72.0					1																	156521568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1663G>C	1.37:g.156521568C>G	ENSP00000354451:p.Asp555His		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.D555H	ENST00000361170.2	37	c.1663	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	C	5.752	0.323142	0.10900	.	.	ENSG00000183856	ENST00000361170	T	0.06933	3.24	4.76	2.89	0.33648	.	0.617210	0.16277	N	0.221510	T	0.02727	0.0082	L	0.51422	1.61	0.27618	N	0.948435	P	0.37955	0.612	B	0.37833	0.259	T	0.41520	-0.9504	10	0.42905	T	0.14	-3.5168	4.3787	0.11283	0.0:0.5575:0.1671:0.2754	.	555	Q86VI3	IQGA3_HUMAN	H	555	ENSP00000354451:D555H	ENSP00000354451:D555H	D	-	1	0	IQGAP3	154788192	0.041000	0.20044	0.418000	0.26571	0.267000	0.26476	0.490000	0.22403	0.454000	0.26884	-0.339000	0.08088	GAT	IQGAP3	-	NULL	ENSG00000183856		0.567	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	57	0.00	0	C	NM_178229		156521568	156521568	-1	no_errors	ENST00000361170	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.703	G
IREB2	3658	genome.wustl.edu	37	15	78778155	78778155	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:78778155G>C	ENST00000258886.8	+	13	1831	c.1682G>C	c.(1681-1683)gGa>gCa	p.G561A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	561					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTTCAAGTGGAGTATTACCA	0.403																																					NSCLC(200;764 2208 35157 49871 50830)	dbGAP											0													171.0	158.0	162.0					15																	78778155		2196	4293	6489	-	-	-	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1682G>C	15.37:g.78778155G>C	ENSP00000258886:p.Gly561Ala		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.G561A	ENST00000258886.8	37	c.1682	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749164	0.89753	.	.	ENSG00000136381	ENST00000258886	T	0.54866	0.55	5.69	5.69	0.88448	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.86418	0.5928	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92067	0.5661	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	561	P48200	IREB2_HUMAN	A	561	ENSP00000258886:G561A	ENSP00000258886:G561A	G	+	2	0	IREB2	76565210	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.526000	0.81920	2.840000	0.97914	0.655000	0.94253	GGA	IREB2	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.403	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	66	0.00	0	G	NM_004136		78778155	78778155	+1	no_errors	ENST00000258886	ensembl	human	known	69_37n	missense	60	28.57	24	SNP	1.000	C
ISL1	3670	genome.wustl.edu	37	5	50685717	50685717	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:50685717G>A	ENST00000230658.7	+	4	1301	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.R239Q	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	239					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GACAAGAAGCGAAGCATCATG	0.577																																						dbGAP											0													61.0	72.0	68.0					5																	50685717		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.716G>A	5.37:g.50685717G>A	ENSP00000230658:p.Arg239Gln		P20663|P47894	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.R239Q	ENST00000230658.7	37	c.716	CCDS43314.1	5	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516887	0.64634	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.95482	-3.72;-3.72	5.63	4.76	0.60689	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.128199	0.46758	D	0.000271	D	0.94578	0.8253	M	0.71581	2.175	0.58432	D	0.99999	D	0.59357	0.985	P	0.46975	0.533	D	0.93251	0.6635	10	0.48119	T	0.1	.	9.3402	0.38076	0.0716:0.0:0.7829:0.1455	.	239	P61371	ISL1_HUMAN	Q	239	ENSP00000230658:R239Q;ENSP00000422676:R239Q	ENSP00000230658:R239Q	R	+	2	0	ISL1	50721474	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	6.178000	0.71968	1.345000	0.45676	-0.188000	0.12872	CGA	ISL1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000016082		0.577	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	38	0.00	0	G	NM_002202		50685717	50685717	+1	no_errors	ENST00000230658	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	0.997	A
ITGA2	3673	genome.wustl.edu	37	5	52370939	52370939	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:52370939C>G	ENST00000296585.5	+	22	2856	c.2713C>G	c.(2713-2715)Cag>Gag	p.Q905E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	905					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCTTCAGAATCAGGCGTCTCT	0.333																																						dbGAP											0													73.0	78.0	76.0					5																	52370939		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2713C>G	5.37:g.52370939C>G	ENSP00000296585:p.Gln905Glu		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.Q905E	ENST00000296585.5	37	c.2713	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	C	1.805	-0.476077	0.04414	.	.	ENSG00000164171	ENST00000296585	T	0.41758	0.99	6.06	2.97	0.34412	Integrin alpha-2 (1);	0.440036	0.24642	N	0.036798	T	0.20088	0.0483	N	0.19112	0.55	0.24037	N	0.996096	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.19289	-1.0310	10	0.07644	T	0.81	.	5.0055	0.14286	0.2048:0.4209:0.3022:0.0722	.	905;905	E7ESP4;P17301	.;ITA2_HUMAN	E	905	ENSP00000296585:Q905E	ENSP00000296585:Q905E	Q	+	1	0	ITGA2	52406696	0.362000	0.24980	1.000000	0.80357	0.932000	0.56968	0.342000	0.19926	1.563000	0.49615	0.650000	0.86243	CAG	ITGA2	-	pfam_Integrin_alpha-2	ENSG00000164171		0.333	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	83	0.00	0	C	NM_002203		52370939	52370939	+1	no_errors	ENST00000296585	ensembl	human	known	69_37n	missense	85	31.45	39	SNP	0.930	G
ITGAL	3683	genome.wustl.edu	37	16	30495230	30495230	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:30495230G>A	ENST00000356798.6	+	8	985	c.805G>A	c.(805-807)Gac>Aac	p.D269N	ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.D186N|RNU7-61P_ENST00000515897.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	269	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	GGAGGCCACTGACAGTGGCAA	0.577																																					NSCLC(110;1462 1641 3311 33990 49495)	dbGAP											0													182.0	160.0	167.0					16																	30495230		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.805G>A	16.37:g.30495230G>A	ENSP00000349252:p.Asp269Asn		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,pfscan_VWF_A,prints_Integrin_alpha	p.D269N	ENST00000356798.6	37	c.805	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412837	0.62511	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.29397	1.57;1.57	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000085	T	0.50990	0.1648	M	0.86268	2.805	0.80722	D	1	B;P	0.46142	0.412;0.873	B;P	0.48677	0.267;0.586	T	0.56739	-0.7929	10	0.72032	D	0.01	.	17.3303	0.87261	0.0:0.0:1.0:0.0	.	186;269	Q96HB1;P20701	.;ITAL_HUMAN	N	269;186	ENSP00000349252:D269N;ENSP00000350886:D186N	ENSP00000349252:D269N	D	+	1	0	ITGAL	30402731	1.000000	0.71417	0.843000	0.33291	0.196000	0.23810	5.922000	0.70036	2.835000	0.97688	0.591000	0.81541	GAC	ITGAL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000005844		0.577	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	38	0.00	0	G			30495230	30495230	+1	no_errors	ENST00000356798	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.992	A
ITGB2	3689	genome.wustl.edu	37	21	46311909	46311909	+	Silent	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:46311909G>T	ENST00000397850.2	-	12	1679	c.1227C>A	c.(1225-1227)atC>atA	p.I409I	ITGB2_ENST00000355153.4_Silent_p.I409I|ITGB2_ENST00000397857.1_Silent_p.I409I|ITGB2_ENST00000397852.1_Silent_p.I409I|ITGB2_ENST00000397854.3_Silent_p.I352I|ITGB2_ENST00000302347.5_Silent_p.I409I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	409					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCTGGAAGGTGATCTGCAGGG	0.652																																						dbGAP											0													63.0	46.0	52.0					21																	46311909		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1227C>A	21.37:g.46311909G>T			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.I409	ENST00000397850.2	37	c.1227	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000160255		0.652	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	36	0.00	0	G	NM_000211		46311909	46311909	-1	no_errors	ENST00000302347	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	1.000	T
ITPR2	3709	genome.wustl.edu	37	12	26647139	26647139	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:26647139C>T	ENST00000381340.3	-	39	5733	c.5317G>A	c.(5317-5319)Gaa>Aaa	p.E1773K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1773					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AAAATGCCTTCTGAAAAAATT	0.373																																						dbGAP											0													106.0	94.0	97.0					12																	26647139		1860	4100	5960	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5317G>A	12.37:g.26647139C>T	ENSP00000370744:p.Glu1773Lys		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1773K	ENST00000381340.3	37	c.5317	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.495257	0.96355	.	.	ENSG00000123104	ENST00000381340	D	0.92965	-3.14	4.53	4.53	0.55603	.	0.055450	0.64402	D	0.000001	D	0.93171	0.7825	M	0.77616	2.38	0.80722	D	1	P	0.38420	0.63	B	0.43082	0.407	D	0.93338	0.6707	10	0.45353	T	0.12	.	17.8354	0.88694	0.0:1.0:0.0:0.0	.	1773	Q14571	ITPR2_HUMAN	K	1773	ENSP00000370744:E1773K	ENSP00000370744:E1773K	E	-	1	0	ITPR2	26538406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.517000	0.67061	2.503000	0.84419	0.591000	0.81541	GAA	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	52	0.00	0	C	NM_002223		26647139	26647139	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	53	27.40	20	SNP	1.000	T
ITSN1	6453	genome.wustl.edu	37	21	35122544	35122544	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:35122544C>G	ENST00000381318.3	+	6	731	c.443C>G	c.(442-444)tCt>tGt	p.S148C	ITSN1_ENST00000399326.3_Missense_Mutation_p.S148C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S148C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S148C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S148C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.S148C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S148C|ITSN1_ENST00000399353.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.S148C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S148C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S148C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S148C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	148					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACCCTAGTATCTTCTGTTCCC	0.537																																						dbGAP											0													127.0	105.0	112.0					21																	35122544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.443C>G	21.37:g.35122544C>G	ENSP00000370719:p.Ser148Cys		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S148C	ENST00000381318.3	37	c.443	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052235	0.55218	.	.	ENSG00000205726	ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.83;0.75;0.86;1.28;0.82;1.16;1.82;0.83;1.83;1.84	5.07	4.19	0.49359	.	0.184523	0.49305	D	0.000145	T	0.56848	0.2013	L	0.47716	1.5	0.45066	D	0.998082	P;D;D;P;P;P	0.61080	0.947;0.969;0.989;0.947;0.947;0.924	B;P;P;B;B;P	0.58873	0.322;0.521;0.847;0.439;0.439;0.521	T	0.60276	-0.7295	10	0.72032	D	0.01	.	13.5446	0.61695	0.0:0.9247:0.0:0.0753	.	148;148;148;148;148;148	A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3	.;.;.;.;ITSN1_HUMAN;.	C	148	ENSP00000370719:S148C;ENSP00000370691:S148C;ENSP00000370685:S148C;ENSP00000382301:S148C;ENSP00000382289:S148C;ENSP00000382292:S148C;ENSP00000382286:S148C;ENSP00000382275:S148C;ENSP00000387377:S148C;ENSP00000382265:S148C;ENSP00000369294:S148C	ENSP00000369294:S148C	S	+	2	0	ITSN1	34044414	1.000000	0.71417	0.944000	0.38274	0.938000	0.57974	5.608000	0.67654	1.129000	0.42072	0.455000	0.32223	TCT	ITSN1	-	NULL	ENSG00000205726		0.537	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	74	0.00	0	C	NM_003024		35122544	35122544	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	1.000	G
IWS1	55677	genome.wustl.edu	37	2	128261086	128261086	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:128261086G>T	ENST00000295321.4	-	4	1545	c.1286C>A	c.(1285-1287)tCa>tAa	p.S429*	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Nonsense_Mutation_p.S436*|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	429	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCTTTTGCCTGACTTGTCTGA	0.393																																						dbGAP											0													137.0	120.0	125.0					2																	128261086		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1286C>A	2.37:g.128261086G>T	ENSP00000295321:p.Ser429*		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.S429*	ENST00000295321.4	37	c.1286	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.805682	0.98498	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	.	.	.	5.26	5.26	0.73747	.	0.345976	0.27613	N	0.018581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.8585	14.5829	0.68305	0.0:0.0:0.8534:0.1466	.	.	.	.	X	429;382;436	.	ENSP00000295321:S429X	S	-	2	0	IWS1	127977556	1.000000	0.71417	0.915000	0.36163	0.981000	0.71138	5.648000	0.67930	2.460000	0.83146	0.655000	0.94253	TCA	IWS1	-	NULL	ENSG00000163166		0.393	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	128	0.00	0	G	NM_017969		128261086	128261086	-1	no_errors	ENST00000295321	ensembl	human	known	69_37n	nonsense	80	20.79	21	SNP	1.000	T
JAG1	182	genome.wustl.edu	37	20	10621580	10621580	+	Splice_Site	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:10621580G>A	ENST00000254958.5	-	25	3565	c.3050C>T	c.(3049-3051)tCt>tTt	p.S1017F	JAG1_ENST00000423891.2_Splice_Site_p.S858F	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1017					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATCTTCAGCAGACTGGAAAAA	0.408									Alagille Syndrome																													dbGAP											0													93.0	84.0	87.0					20																	10621580		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3049-1C>T	20.37:g.10621580G>A			A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.S1017F	ENST00000254958.5	37	c.3050	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421623	0.62622	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.86865	-2.17;-2.18	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83142	0.5190	N	0.08118	0	0.80722	D	1	P	0.49090	0.919	P	0.50231	0.635	D	0.84674	0.0713	10	0.42905	T	0.14	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1017	P78504	JAG1_HUMAN	F	1017;858	ENSP00000254958:S1017F;ENSP00000389519:S858F	ENSP00000254958:S1017F	S	-	2	0	JAG1	10569580	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.229000	0.95273	2.769000	0.95229	0.655000	0.94253	TCT	JAG1	-	NULL	ENSG00000101384		0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		73	0.00	0	G	NM_000214	Missense_Mutation	10621580	10621580	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	1.000	A
JAK3	3718	genome.wustl.edu	37	19	17950341	17950341	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:17950341C>T	ENST00000527670.1	-	9	1415	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.L462L|JAK3_ENST00000458235.1_Silent_p.L462L			P52333	JAK3_HUMAN	Janus kinase 3	462	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CATCTACGTGCAGCCCCCCAT	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													40.0	32.0	35.0					19																	17950341		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1386G>A	19.37:g.17950341C>T			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom	p.L462	ENST00000527670.1	37	c.1386	CCDS12366.1	19																																																																																			JAK3	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3	ENSG00000105639		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	26	0.00	0	C	NM_000215		17950341	17950341	-1	no_errors	ENST00000458235	ensembl	human	known	69_37n	silent	21	22.22	6	SNP	0.175	T
KANK4	163782	genome.wustl.edu	37	1	62734158	62734158	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:62734158C>T	ENST00000371153.4	-	5	2410	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	KANK4_ENST00000354381.3_Missense_Mutation_p.E50K|KANK4_ENST00000371150.1_Missense_Mutation_p.E34K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	678						cytoplasm (GO:0005737)		p.E678K(1)|p.E678*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGGTCTCCTCACTTGAGGTG	0.562																																						dbGAP											2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(2)											81.0	71.0	74.0					1																	62734158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2032G>A	1.37:g.62734158C>T	ENSP00000360195:p.Glu678Lys		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E678K	ENST00000371153.4	37	c.2032	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.865492	0.97043	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.60797	0.16;0.47;0.42	6.17	6.17	0.99709	.	0.000000	0.39985	N	0.001219	T	0.79621	0.4477	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.965	T	0.79381	-0.1827	10	0.66056	D	0.02	-30.1841	20.8794	0.99867	0.0:1.0:0.0:0.0	.	50;678	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	K	678;50;34	ENSP00000360195:E678K;ENSP00000346352:E50K;ENSP00000360192:E34K	ENSP00000346352:E50K	E	-	1	0	KANK4	62506746	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.719000	0.74718	2.941000	0.99782	0.655000	0.94253	GAG	KANK4	-	NULL	ENSG00000132854		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	37	0.00	0	C	NM_181712		62734158	62734158	-1	no_errors	ENST00000371153	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	T
KBTBD8	84541	genome.wustl.edu	37	3	67053917	67053917	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:67053917C>T	ENST00000417314.2	+	3	575	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.R150C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	176	BACK.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAATACATTCGTAAAAAGTT	0.378																																						dbGAP											0													59.0	63.0	61.0					3																	67053917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.526C>T	3.37:g.67053917C>T	ENSP00000401878:p.Arg176Cys		B4DTW6|Q96JI5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R176C	ENST00000417314.2	37	c.526	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298434	0.40694	.	.	ENSG00000163376	ENST00000295568;ENST00000484414;ENST00000417314	T;T;T	0.69306	-0.39;-0.39;-0.39	4.73	4.73	0.59995	BTB/Kelch-associated (2);	0.101217	0.64402	D	0.000001	T	0.70640	0.3247	N	0.20328	0.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69698	-0.5075	10	0.28530	T	0.3	.	18.0701	0.89403	0.0:1.0:0.0:0.0	.	176	Q8NFY9	KBTB8_HUMAN	C	150;99;176	ENSP00000295568:R150C;ENSP00000417341:R99C;ENSP00000401878:R176C	ENSP00000295568:R150C	R	+	1	0	KBTBD8	67136607	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	7.728000	0.84847	2.330000	0.79161	0.494000	0.49563	CGT	KBTBD8	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000163376		0.378	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	29	0.00	0	C	NM_032505		67053917	67053917	+1	no_errors	ENST00000417314	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	T
KCNA2	3737	genome.wustl.edu	37	1	111147111	111147111	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:111147111C>G	ENST00000485317.1	-	3	967	c.294G>C	c.(292-294)ttG>ttC	p.L98F	KCNA2_ENST00000316361.4_Missense_Mutation_p.L98F|KCNA2_ENST00000440270.1_Missense_Mutation_p.L98F|KCNA2_ENST00000369770.3_Missense_Mutation_p.L98F|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	98					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CAGGTCGCCTCAATCGGCCCC	0.473																																					Pancreas(18;568 735 10587 23710 36357)	dbGAP											0													46.0	50.0	48.0					1																	111147111		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.294G>C	1.37:g.111147111C>G	ENSP00000433109:p.Leu98Phe		Q86XG6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1	p.L98F	ENST00000485317.1	37	c.294	CCDS827.1	1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074798	0.36566	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	6.02	2.82	0.32997	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000001	D	0.91543	0.7329	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.989	D	0.91420	0.5158	10	0.87932	D	0	.	7.2001	0.25877	0.0:0.6553:0.1328:0.2119	.	98;98	Q86XG6;P16389	.;KCNA2_HUMAN	F	98	ENSP00000358785:L98F;ENSP00000433109:L98F;ENSP00000415257:L98F;ENSP00000314520:L98F	ENSP00000314520:L98F	L	-	3	2	KCNA2	110948634	0.997000	0.39634	0.991000	0.47740	0.774000	0.43823	0.496000	0.22499	1.569000	0.49696	0.655000	0.94253	TTG	KCNA2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000177301		0.473	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	26	0.00	0	C	NM_004974		111147111	111147111	-1	no_errors	ENST00000316361	ensembl	human	known	69_37n	missense	17	28.00	7	SNP	0.998	G
KCNA4	3739	genome.wustl.edu	37	11	30033212	30033212	+	Silent	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:30033212G>T	ENST00000328224.6	-	2	2247	c.1014C>A	c.(1012-1014)ctC>ctA	p.L338L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	338					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTGCCATGACGAGATCCCTGT	0.512																																						dbGAP											0													86.0	79.0	81.0					11																	30033212		2047	4199	6246	-	-	-	SO:0001819	synonymous_variant	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1014C>A	11.37:g.30033212G>T				Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.L338	ENST00000328224.6	37	c.1014	CCDS41629.1	11																																																																																			KCNA4	-	NULL	ENSG00000182255		0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	26	0.00	0	G	NM_002233		30033212	30033212	-1	no_errors	ENST00000328224	ensembl	human	known	69_37n	silent	22	20.69	6	SNP	0.060	T
KCNA7	3743	genome.wustl.edu	37	19	49574011	49574011	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:49574011C>T	ENST00000221444.1	-	2	1035	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	227					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GACCAGGAGGCGTACCAGCAG	0.527																																					Colon(74;686 1235 3793 23366 48562)	dbGAP											0													146.0	106.0	119.0					19																	49574011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.680G>A	19.37:g.49574011C>T	ENSP00000221444:p.Arg227His		A1KYX7|Q9BYS4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.R227H	ENST00000221444.1	37	c.680	CCDS12755.1	19	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388082	0.61956	.	.	ENSG00000104848	ENST00000221444	D	0.98684	-5.07	4.49	4.49	0.54785	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.97829	4.085	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97936	1.0323	10	0.87932	D	0	.	16.3041	0.82841	0.0:1.0:0.0:0.0	.	227	Q96RP8	KCNA7_HUMAN	H	227	ENSP00000221444:R227H	ENSP00000221444:R227H	R	-	2	0	KCNA7	54265823	1.000000	0.71417	0.954000	0.39281	0.149000	0.21700	7.811000	0.86092	2.234000	0.73211	0.313000	0.20887	CGC	KCNA7	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000104848		0.527	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	HGNC	protein_coding	OTTHUMT00000466263.1	67	0.00	0	C	NM_031886		49574011	49574011	-1	no_errors	ENST00000221444	ensembl	human	known	69_37n	missense	40	26.79	15	SNP	1.000	T
KCNH1	3756	genome.wustl.edu	37	1	211192458	211192458	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:211192458G>C	ENST00000271751.4	-	6	726	c.699C>G	c.(697-699)atC>atG	p.I233M	KCNH1_ENST00000367007.4_Missense_Mutation_p.I233M			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	233					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAGGGACCAAGATGGCTGTAT	0.433																																						dbGAP											0													103.0	97.0	99.0					1																	211192458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.699C>G	1.37:g.211192458G>C	ENSP00000271751:p.Ile233Met		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.I233M	ENST00000271751.4	37	c.699	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962348	0.53400	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97850	-4.57;-4.57	5.09	2.94	0.34122	.	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	M	0.78456	2.415	0.51767	D	0.999938	P;D	0.59357	0.938;0.985	P;P	0.60012	0.625;0.867	D	0.96662	0.9490	10	0.87932	D	0	.	4.1804	0.10372	0.4795:0.0:0.5205:0.0	.	233;233	Q14CL3;O95259	.;KCNH1_HUMAN	M	233	ENSP00000271751:I233M;ENSP00000355974:I233M	ENSP00000271751:I233M	I	-	3	3	KCNH1	209259081	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.520000	0.53465	1.139000	0.42245	0.462000	0.41574	ATC	KCNH1	-	prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG	ENSG00000143473		0.433	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	55	0.00	0	G	NM_002238		211192458	211192458	-1	no_errors	ENST00000271751	ensembl	human	known	69_37n	missense	55	18.84	13	SNP	1.000	C
KCNIP4	80333	genome.wustl.edu	37	4	20852249	20852249	+	Missense_Mutation	SNP	G	G	A	rs548454366		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:20852249G>A	ENST00000382152.2	-	3	372	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	KCNIP4_ENST00000509207.1_Missense_Mutation_p.R7W|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R35W|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R44W|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R7W|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R48W	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	69	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCTTCAGGCCGATGCCTGACG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		18121	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													70.0	69.0	69.0					4																	20852249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.205C>T	4.37:g.20852249G>A	ENSP00000371587:p.Arg69Trp		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.R48W	ENST00000382152.2	37	c.142	CCDS43216.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241883	0.79912	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.68479	-0.33;1.93;-0.33;1.93;-0.33;-0.33	5.42	5.42	0.78866	.	0.228508	0.44688	D	0.000434	D	0.82595	0.5071	M	0.84326	2.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;D;D	0.75484	0.934;0.871;0.934;0.986	D	0.85146	0.0983	10	0.87932	D	0	.	14.9878	0.71362	0.0:0.0:0.8486:0.1514	.	44;48;52;69	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	W	44;35;48;7;69;7;7	ENSP00000371583:R44W;ENSP00000399080:R35W;ENSP00000371585:R48W;ENSP00000371587:R69W;ENSP00000423257:R7W;ENSP00000351892:R7W	ENSP00000351892:R7W	R	-	1	2	KCNIP4	20461347	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.259000	0.65485	2.521000	0.84997	0.655000	0.94253	CGG	KCNIP4	-	prints_Recoverin	ENSG00000185774		0.468	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	KCNIP4	HGNC	protein_coding	OTTHUMT00000360407.3	57	0.00	0	G	NM_025221		20852249	20852249	-1	no_errors	ENST00000382150	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	A
KCNMB3	27094	genome.wustl.edu	37	3	178968844	178968844	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:178968844G>A	ENST00000314235.5	-	1	559	c.48C>T	c.(46-48)ttC>ttT	p.F16F	KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	16					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TGAGCAGGATGAATGCAACAA	0.403																																						dbGAP											0													143.0	140.0	141.0					3																	178968844		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.48C>T	3.37:g.178968844G>A			B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.F16	ENST00000314235.5	37	c.48	CCDS3226.1	3																																																																																			KCNMB3	-	NULL	ENSG00000171121		0.403	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	KCNMB3	HGNC	protein_coding	OTTHUMT00000348484.1	70	0.00	0	G			178968844	178968844	-1	no_errors	ENST00000314235	ensembl	human	known	69_37n	silent	66	27.47	25	SNP	0.000	A
KCNV2	169522	genome.wustl.edu	37	9	2729535	2729535	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:2729535C>T	ENST00000382082.3	+	2	1684	c.1446C>T	c.(1444-1446)atC>atT	p.I482I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	482					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTTTTGGGATCATTCTCAACG	0.502																																						dbGAP											0													144.0	113.0	123.0					9																	2729535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1446C>T	9.37:g.2729535C>T			Q5T6X0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.I482	ENST00000382082.3	37	c.1446	CCDS6447.1	9																																																																																			KCNV2	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	ENSG00000168263		0.502	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	HGNC	protein_coding	OTTHUMT00000051528.1	60	0.00	0	C	NM_133497		2729535	2729535	+1	no_errors	ENST00000382082	ensembl	human	known	69_37n	silent	42	24.56	14	SNP	1.000	T
KCTD20	222658	genome.wustl.edu	37	6	36446965	36446965	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:36446965G>A	ENST00000373731.2	+	4	893	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.E23K	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	168	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TGAGATTGCTGAAGGCATCAG	0.448																																						dbGAP											0													209.0	158.0	175.0					6																	36446965		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.502G>A	6.37:g.36446965G>A	ENSP00000362836:p.Glu168Lys		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E168K	ENST00000373731.2	37	c.502	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.257498	0.95368	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	T;T	0.80304	-0.93;-1.36	5.29	5.29	0.74685	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	L	0.40543	1.245	0.80722	D	1	D	0.56746	0.977	P	0.55011	0.766	T	0.79852	-0.1628	10	0.49607	T	0.09	-23.6938	19.1338	0.93418	0.0:0.0:1.0:0.0	.	168	Q7Z5Y7	KCD20_HUMAN	K	168;23	ENSP00000362836:E168K;ENSP00000439118:E23K	ENSP00000362836:E168K	E	+	1	0	KCTD20	36554943	1.000000	0.71417	0.963000	0.40424	0.915000	0.54546	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	GAA	KCTD20	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000112078		0.448	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	52	0.00	0	G	NM_173562		36446965	36446965	+1	no_errors	ENST00000373731	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	1.000	A
KCTD21	283219	genome.wustl.edu	37	11	77885525	77885525	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:77885525C>T	ENST00000340067.3	-	2	354	c.76G>A	c.(76-78)Gac>Aac	p.D26N	KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	26	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGCATGGAGTCAGGGAAGCTG	0.582																																						dbGAP											0													84.0	64.0	71.0					11																	77885525		2200	4292	6492	-	-	-	SO:0001583	missense	0			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.76G>A	11.37:g.77885525C>T	ENSP00000339340:p.Asp26Asn		B4DTR0	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.D26N	ENST00000340067.3	37	c.76	CCDS31645.1	11	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523360	0.64747	.	.	ENSG00000188997	ENST00000340067;ENST00000526208;ENST00000525447;ENST00000529350;ENST00000530018;ENST00000528776	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.71	4.79	0.61399	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.53938	D	0.000050	T	0.41143	0.1146	L	0.46567	1.45	0.48395	D	0.999643	B	0.10296	0.003	B	0.26416	0.069	T	0.37454	-0.9705	10	0.87932	D	0	.	15.1096	0.72346	0.0:0.931:0.0:0.069	.	26	Q4G0X4	KCD21_HUMAN	N	26	ENSP00000339340:D26N;ENSP00000431789:D26N;ENSP00000434174:D26N;ENSP00000431130:D26N;ENSP00000435428:D26N;ENSP00000435025:D26N	ENSP00000339340:D26N	D	-	1	0	KCTD21	77563173	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	5.846000	0.69444	2.691000	0.91804	0.563000	0.77884	GAC	KCTD21	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000188997		0.582	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD21	HGNC	protein_coding	OTTHUMT00000390057.1	42	0.00	0	C	NM_001029859		77885525	77885525	-1	no_errors	ENST00000340067	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	T
KCTD3	51133	genome.wustl.edu	37	1	215792602	215792602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:215792602C>T	ENST00000259154.4	+	17	2149	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	619					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCGTAGTTCAGCATAGCCA	0.378																																						dbGAP											0													127.0	134.0	132.0					1																	215792602		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1855C>T	1.37:g.215792602C>T	ENSP00000259154:p.Gln619*		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.Q619*	ENST00000259154.4	37	c.1855	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.727043	0.98456	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.65	5.65	0.86999	.	0.101970	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-19.2602	19.733	0.96192	0.0:1.0:0.0:0.0	.	.	.	.	X	619	.	ENSP00000259154:Q619X	Q	+	1	0	KCTD3	213859225	1.000000	0.71417	0.994000	0.49952	0.304000	0.27724	7.487000	0.81328	2.665000	0.90641	0.585000	0.79938	CAG	KCTD3	-	NULL	ENSG00000136636		0.378	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	77	0.00	0	C	NM_016121		215792602	215792602	+1	no_errors	ENST00000259154	ensembl	human	known	69_37n	nonsense	49	19.67	12	SNP	1.000	T
KDM2A	22992	genome.wustl.edu	37	11	67013375	67013375	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:67013375C>T	ENST00000529006.2	+	15	2279				KDM2A_ENST00000530342.1_Intron|KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000308783.5_Intron|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGACCCAAATCTCCCATCTTC	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1834-81C>T	11.37:g.67013375C>T			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	RNA	SNP	-	NULL	ENST00000529006.2	37	NULL	CCDS44657.1	11																																																																																			KDM2A	-	-	ENSG00000173120		0.453	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	24	0.00	0	C	NM_012308		67013375	67013375	+1	no_errors	ENST00000534486	ensembl	human	putative	69_37n	rna	20	28.57	8	SNP	0.000	T
KDM4A	9682	genome.wustl.edu	37	1	44134883	44134883	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:44134883G>C	ENST00000372396.3	+	10	1410	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	426					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E426K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAGCAGTATGAGATGACGGA	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											143.0	138.0	140.0					1																	44134883		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1276G>C	1.37:g.44134883G>C	ENSP00000361473:p.Glu426Gln		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E426Q	ENST00000372396.3	37	c.1276	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987187	0.74589	.	.	ENSG00000066135	ENST00000372396	T	0.16457	2.34	5.23	5.23	0.72850	.	0.885541	0.10194	N	0.704191	T	0.21841	0.0526	L	0.44542	1.39	0.31030	N	0.71752	B;D	0.53885	0.079;0.963	B;B	0.44224	0.029;0.444	T	0.09907	-1.0653	10	0.34782	T	0.22	-20.6631	17.3433	0.87303	0.0:0.0:1.0:0.0	.	426;426	B4DT38;O75164	.;KDM4A_HUMAN	Q	426	ENSP00000361473:E426Q	ENSP00000361473:E426Q	E	+	1	0	KDM4A	43907470	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.315000	0.78998	2.596000	0.87737	0.561000	0.74099	GAG	KDM4A	-	NULL	ENSG00000066135		0.547	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	57	0.00	0	G	NM_014663		44134883	44134883	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	C
KDM5B	10765	genome.wustl.edu	37	1	202698837	202698837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:202698837C>A	ENST00000367265.3	-	26	5659	c.4495G>T	c.(4495-4497)Gag>Tag	p.E1499*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.E1535*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1499					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCACTGACCTCATCTCCTTCT	0.522																																						dbGAP											0													83.0	81.0	82.0					1																	202698837		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4495G>T	1.37:g.202698837C>A	ENSP00000356234:p.Glu1499*		O95811|Q15752|Q9Y3Q5	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1499*	ENST00000367265.3	37	c.4495	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.432586	0.99404	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-23.6532	19.7923	0.96464	0.0:1.0:0.0:0.0	.	.	.	.	X	1499;1341;1535	.	ENSP00000356233:E1535X	E	-	1	0	KDM5B	200965460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.660000	0.90430	0.650000	0.86243	GAG	KDM5B	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000117139		0.522	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	59	0.00	0	C	NM_006618		202698837	202698837	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	nonsense	49	24.62	16	SNP	1.000	A
KIAA0232	9778	genome.wustl.edu	37	4	6864958	6864958	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:6864958C>T	ENST00000307659.5	+	7	3304	c.2849C>T	c.(2848-2850)cCa>cTa	p.P950L	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P950L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	950							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCAGTCGTACCACCTAGTCAC	0.448																																						dbGAP											0													83.0	77.0	79.0					4																	6864958		1933	4138	6071	-	-	-	SO:0001583	missense	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2849C>T	4.37:g.6864958C>T	ENSP00000303928:p.Pro950Leu		A7E2D2	Missense_Mutation	SNP	NULL	p.P950L	ENST00000307659.5	37	c.2849	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005091	0.35415	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79790	-0.1655	9	0.87932	D	0	-18.1194	18.412	0.90555	0.0:1.0:0.0:0.0	.	950	Q92628	K0232_HUMAN	L	950	.	ENSP00000303928:P950L	P	+	2	0	KIAA0232	6915859	1.000000	0.71417	0.252000	0.24328	0.013000	0.08279	7.237000	0.78164	2.656000	0.90262	0.655000	0.94253	CCA	KIAA0232	-	NULL	ENSG00000170871		0.448	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	48	0.00	0	C	NM_014743		6864958	6864958	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	0.999	T
KIAA0355	9710	genome.wustl.edu	37	19	34832394	34832394	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:34832394G>T	ENST00000299505.6	+	10	2428	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	519										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAACCAGGCTGACCTGCCTTC	0.433																																						dbGAP											0													80.0	82.0	81.0					19																	34832394		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1555G>T	19.37:g.34832394G>T	ENSP00000299505:p.Asp519Tyr		Q2M3W4	Missense_Mutation	SNP	NULL	p.D519Y	ENST00000299505.6	37	c.1555	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060151	0.76074	.	.	ENSG00000166398	ENST00000299505	T	0.48201	0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62511	-0.6839	10	0.87932	D	0	-13.2047	18.2657	0.90051	0.0:0.0:1.0:0.0	.	519	O15063	K0355_HUMAN	Y	519	ENSP00000299505:D519Y	ENSP00000299505:D519Y	D	+	1	0	KIAA0355	39524234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.123000	0.94387	2.638000	0.89438	0.655000	0.94253	GAC	KIAA0355	-	NULL	ENSG00000166398		0.433	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	42	0.00	0	G	NM_014686		34832394	34832394	+1	no_errors	ENST00000299505	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123132205	123132205	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:123132205G>C	ENST00000264501.4	+	20	2575	c.2202G>C	c.(2200-2202)caG>caC	p.Q734H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q734H|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q734H|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	734					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGATTCTCAGATAACTCTCT	0.343																																						dbGAP											0													83.0	76.0	78.0					4																	123132205		1816	4083	5899	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2202G>C	4.37:g.123132205G>C	ENSP00000264501:p.Gln734His		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.Q734H	ENST00000264501.4	37	c.2202	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.728|6.728	0.503043|0.503043	0.12822|0.12822	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.24538	.|2.44;2.44;1.85	4.97|4.97	-1.46|-1.46	0.08800|0.08800	.|.	.|2.371520	.|0.02958	.|N	.|0.142727	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.21448|0.21448	0.665|0.665	0.33166|0.33166	D|D	0.547693|0.547693	.|B;B	.|0.13145	.|0.007;0.001	.|B;B	.|0.11329	.|0.006;0.001	T|T	0.32375|0.32375	-0.9909|-0.9909	5|10	.|0.13470	.|T	.|0.59	.|.	6.1858|6.1858	0.20495|0.20495	0.4216:0.0:0.4636:0.1148|0.4216:0.0:0.4636:0.1148	.|.	.|734;734	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|H	567|734	.|ENSP00000264501:Q734H;ENSP00000373390:Q734H;ENSP00000389925:Q734H	.|ENSP00000264501:Q734H	D|Q	+|+	1|3	0|2	KIAA1109|KIAA1109	123351655|123351655	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.986000|0.986000	0.74619|0.74619	0.564000|0.564000	0.23563|0.23563	-0.298000|-0.298000	0.08921|0.08921	-0.196000|-0.196000	0.12772|0.12772	GAT|CAG	KIAA1109	-	NULL	ENSG00000138688		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	89	0.00	0	G	NM_020797		123132205	123132205	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	67	34.95	36	SNP	0.949	C
CEMIP	57214	genome.wustl.edu	37	15	81217032	81217032	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:81217032C>T	ENST00000394685.3	+	18	2692	c.2273C>T	c.(2272-2274)tCa>tTa	p.S758L	KIAA1199_ENST00000356249.5_Missense_Mutation_p.S758L|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S758L|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		758					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCGTTCCTCTCAATCATCTCT	0.537																																						dbGAP											0													122.0	100.0	108.0					15																	81217032		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000394685.3:c.2273C>T	15.37:g.81217032C>T	ENSP00000378177:p.Ser758Leu		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.S758L	ENST00000394685.3	37	c.2273	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854877	0.51376	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.56941	0.43;0.43;0.43	5.12	5.12	0.69794	Pectin lyase fold/virulence factor (1);	0.136100	0.50627	D	0.000120	T	0.46983	0.1421	L	0.52905	1.665	0.43499	D	0.995745	P	0.35077	0.483	B	0.28139	0.086	T	0.43163	-0.9408	10	0.18710	T	0.47	-30.7792	18.9049	0.92456	0.0:1.0:0.0:0.0	.	758	Q8WUJ3	K1199_HUMAN	L	758	ENSP00000220244:S758L;ENSP00000378177:S758L;ENSP00000348583:S758L	ENSP00000220244:S758L	S	+	2	0	KIAA1199	79004087	1.000000	0.71417	0.996000	0.52242	0.292000	0.27327	7.196000	0.77805	2.529000	0.85273	0.591000	0.81541	TCA	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.537	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	88	0.00	0	C			81217032	81217032	+1	no_errors	ENST00000220244	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	0.998	T
KIAA1244	57221	genome.wustl.edu	37	6	138584527	138584527	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:138584527C>T	ENST00000251691.4	+	12	2073	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACAACTGTTCACTAGCCGAT	0.557																																						dbGAP											0													86.0	101.0	96.0					6																	138584527		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1907C>T	6.37:g.138584527C>T	ENSP00000251691:p.Ser636Leu			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.S636L	ENST00000251691.4	37	c.1907	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976649	0.74360	.	.	ENSG00000112379	ENST00000251691	T	0.21191	2.02	5.47	5.47	0.80525	SEC7-like (1);	0.216956	0.40144	N	0.001165	T	0.36690	0.0976	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.04635	-1.0937	10	0.51188	T	0.08	-20.5293	19.3197	0.94233	0.0:1.0:0.0:0.0	.	636	Q5TH69	BIG3_HUMAN	L	636	ENSP00000251691:S636L	ENSP00000251691:S636L	S	+	2	0	KIAA1244	138626220	1.000000	0.71417	0.814000	0.32528	0.246000	0.25737	7.506000	0.81665	2.569000	0.86673	0.655000	0.94253	TCA	KIAA1244	-	superfamily_ARM-type_fold,smart_Sec7	ENSG00000112379		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	38	0.00	0	C	NM_020340		138584527	138584527	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	1.000	T
KIAA1257	57501	genome.wustl.edu	37	3	128696921	128696921	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:128696921C>G	ENST00000265068.5	-	5	942	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q	KIAA1257_ENST00000511438.1_Missense_Mutation_p.E259Q|KIAA1257_ENST00000515659.1_Missense_Mutation_p.E147Q|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	259										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTTTTTTCTTGTTTTCCT	0.448																																						dbGAP											0													186.0	188.0	187.0					3																	128696921		2011	4174	6185	-	-	-	SO:0001583	missense	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.775G>C	3.37:g.128696921C>G	ENSP00000265068:p.Glu259Gln		Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.E259Q	ENST00000265068.5	37	c.775	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464808	0.43839	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.23	2.32	0.28847	.	0.508491	0.16857	N	0.196678	T	0.22704	0.0548	L	0.27053	0.805	0.09310	N	1	P;P	0.40332	0.713;0.713	B;B	0.36418	0.224;0.224	T	0.09796	-1.0658	9	0.62326	D	0.03	-6.6312	8.2844	0.31920	0.0:0.7548:0.2452:0.0	.	259;259	Q9ULG3;D6RH05	K1257_HUMAN;.	Q	259;259;147	.	ENSP00000265068:E259Q	E	-	1	0	KIAA1257	130179611	0.063000	0.20901	0.012000	0.15200	0.095000	0.18619	1.645000	0.37238	0.903000	0.36546	0.467000	0.42956	GAA	KIAA1257	-	NULL	ENSG00000114656		0.448	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	221	0.00	0	C	NM_020741		128696921	128696921	-1	no_errors	ENST00000265068	ensembl	human	known	69_37n	missense	162	27.35	61	SNP	0.016	G
KIAA1467	57613	genome.wustl.edu	37	12	13221368	13221368	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:13221368C>G	ENST00000197268.8	+	8	1393	c.1273C>G	c.(1273-1275)Caa>Gaa	p.Q425E		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	425						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ATTGAGACTTCAAGGCCTGCG	0.458																																						dbGAP											0													188.0	145.0	159.0					12																	13221368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1273C>G	12.37:g.13221368C>G	ENSP00000197268:p.Gln425Glu		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.Q425E	ENST00000197268.8	37	c.1273	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	C	8.503	0.864780	0.17250	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.28255	1.62	5.42	4.5	0.54988	.	0.948972	0.08964	N	0.868333	T	0.31575	0.0801	M	0.63428	1.95	0.09310	N	1	B	0.20261	0.043	B	0.20767	0.031	T	0.44772	-0.9306	10	0.06365	T	0.9	0.1722	13.5795	0.61893	0.1556:0.8444:0.0:0.0	.	425	A2RU67	K1467_HUMAN	E	425;201	ENSP00000437974:Q201E	ENSP00000197268:Q425E	Q	+	1	0	KIAA1467	13112635	0.324000	0.24652	0.008000	0.14137	0.908000	0.53690	3.418000	0.52721	1.223000	0.43536	0.655000	0.94253	CAA	KIAA1467	-	NULL	ENSG00000084444		0.458	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	62	0.00	0	C	NM_020853		13221368	13221368	+1	no_errors	ENST00000197268	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	0.017	G
KIAA1549L	25758	genome.wustl.edu	37	11	33565327	33565327	+	Missense_Mutation	SNP	C	C	G	rs555195342		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:33565327C>G	ENST00000321505.4	+	1	1507	c.1327C>G	c.(1327-1329)Cca>Gca	p.P443A	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P443A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P443A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	443						integral component of membrane (GO:0016021)											TCATTTAGCTCCAACAGCTCC	0.413											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													114.0	111.0	112.0					11																	33565327		1857	4098	5955	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1327C>G	11.37:g.33565327C>G	ENSP00000315295:p.Pro443Ala	841	B0QYU0	Missense_Mutation	SNP	NULL	p.P443A	ENST00000321505.4	37	c.1327	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	C	1.856	-0.463790	0.04476	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.63	-1.56	0.08532	.	1.070470	0.07275	N	0.869733	T	0.19046	0.0457	N	0.22421	0.69	0.09310	N	1	B;B	0.24920	0.001;0.114	B;B	0.21708	0.002;0.036	T	0.24440	-1.0160	9	0.31617	T	0.26	-0.293	0.8431	0.01154	0.1493:0.2458:0.2175:0.3874	.	443;443	E9PAT2;Q6ZVL6-2	.;.	A	443;443;443;283	.	ENSP00000265654:P443A	P	+	1	0	C11orf41	33521903	0.000000	0.05858	0.006000	0.13384	0.192000	0.23643	-0.470000	0.06639	-0.142000	0.11354	-0.402000	0.06365	CCA	KIAA1549L	-	NULL	ENSG00000110427		0.413	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	60	0.00	0	C	NM_012194		33565327	33565327	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.001	G
KIAA1755	85449	genome.wustl.edu	37	20	36856635	36856635	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:36856635C>T	ENST00000279024.4	-	6	2150	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	627								p.D627H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGGCTTTATCTTCAGGCCTG	0.617																																						dbGAP											1	Substitution - Missense(1)	lung(1)											43.0	39.0	40.0					20																	36856635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1879G>A	20.37:g.36856635C>T	ENSP00000279024:p.Asp627Asn		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.D627N	ENST00000279024.4	37	c.1879	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667957	0.47677	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.21543	2.0	4.8	3.86	0.44501	.	0.920065	0.09112	N	0.846949	T	0.26593	0.0650	L	0.53249	1.67	0.33083	D	0.536933	P	0.37914	0.611	B	0.42798	0.398	T	0.20371	-1.0277	10	0.25106	T	0.35	.	10.5931	0.45321	0.0:0.9072:0.0:0.0928	.	627	Q5JYT7	K1755_HUMAN	N	627;174	ENSP00000279024:D627N	ENSP00000279024:D627N	D	-	1	0	KIAA1755	36290049	0.622000	0.27085	0.978000	0.43139	0.743000	0.42351	1.127000	0.31357	1.249000	0.43950	0.655000	0.94253	GAT	KIAA1755	-	superfamily_CRAL-TRIO_dom	ENSG00000149633		0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	33	0.00	0	C	NM_001029864		36856635	36856635	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.997	T
KIAA1755	85449	genome.wustl.edu	37	20	36870061	36870061	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:36870061C>G	ENST00000279024.4	-	3	743	c.472G>C	c.(472-474)Gag>Cag	p.E158Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	158										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGATTTCCCTCAAAGTCACTG	0.522																																						dbGAP											0													114.0	114.0	114.0					20																	36870061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.472G>C	20.37:g.36870061C>G	ENSP00000279024:p.Glu158Gln		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.E158Q	ENST00000279024.4	37	c.472	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899746	0.33535	.	.	ENSG00000149633	ENST00000279024	T	0.06528	3.29	5.84	4.88	0.63580	.	0.121183	0.37483	N	0.002064	T	0.06005	0.0156	L	0.43152	1.355	0.27690	N	0.946142	P	0.44090	0.826	B	0.35114	0.196	T	0.24512	-1.0158	10	0.42905	T	0.14	.	10.9596	0.47376	0.146:0.7134:0.1405:0.0	.	158	Q5JYT7	K1755_HUMAN	Q	158	ENSP00000279024:E158Q	ENSP00000279024:E158Q	E	-	1	0	KIAA1755	36303475	0.998000	0.40836	0.898000	0.35279	0.035000	0.12851	2.540000	0.45727	1.431000	0.47355	0.655000	0.94253	GAG	KIAA1755	-	NULL	ENSG00000149633		0.522	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	86	0.00	0	C	NM_001029864		36870061	36870061	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	missense	39	28.57	16	SNP	0.867	G
KIF15	56992	genome.wustl.edu	37	3	44867541	44867541	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:44867541G>A	ENST00000326047.4	+	21	2709	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	KIF15_ENST00000425755.1_Missense_Mutation_p.E489K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	854					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTTAGAAAACGAAAAGCTGCT	0.303																																						dbGAP											0													50.0	56.0	54.0					3																	44867541		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2560G>A	3.37:g.44867541G>A	ENSP00000324020:p.Glu854Lys		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E854K	ENST00000326047.4	37	c.2560	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185244	0.78677	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.59502	0.26;0.26;0.26	5.58	5.58	0.84498	.	0.000000	0.52532	D	0.000066	T	0.74974	0.3787	M	0.66939	2.045	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	T	0.73104	-0.4088	10	0.40728	T	0.16	.	18.3472	0.90326	0.0:0.0:1.0:0.0	.	854	Q9NS87	KIF15_HUMAN	K	854;626;853;489	ENSP00000324020:E854K;ENSP00000425499:E626K;ENSP00000389982:E489K	ENSP00000324020:E854K	E	+	1	0	KIF15	44842545	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	6.690000	0.74567	2.640000	0.89533	0.491000	0.48974	GAA	KIF15	-	NULL	ENSG00000163808		0.303	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	46	0.00	0	G			44867541	44867541	+1	no_errors	ENST00000326047	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	A
KIF18A	81930	genome.wustl.edu	37	11	28116237	28116237	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:28116237C>T	ENST00000263181.6	-	3	726	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	146	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCTTTAATCTCATCCATGCAT	0.383																																						dbGAP											0													180.0	164.0	170.0					11																	28116237		2202	4299	6501	-	-	-	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.436G>A	11.37:g.28116237C>T	ENSP00000263181:p.Glu146Lys		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E146K	ENST00000263181.6	37	c.436	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555755	0.45487	.	.	ENSG00000121621	ENST00000263181	T	0.74842	-0.88	5.58	4.64	0.57946	Kinesin, motor domain (4);	0.469430	0.26038	N	0.026703	T	0.58694	0.2140	L	0.35487	1.065	0.36209	D	0.851221	B	0.15473	0.013	B	0.19946	0.027	T	0.55685	-0.8102	10	0.12430	T	0.62	.	7.8631	0.29522	0.0:0.6148:0.2887:0.0964	.	146	Q8NI77	KI18A_HUMAN	K	146	ENSP00000263181:E146K	ENSP00000263181:E146K	E	-	1	0	KIF18A	28072813	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	2.916000	0.48813	2.648000	0.89879	0.650000	0.86243	GAG	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000121621		0.383	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	75	0.00	0	C	NM_031217		28116237	28116237	-1	no_errors	ENST00000263181	ensembl	human	known	69_37n	missense	79	11.11	10	SNP	0.999	T
KIF4A	24137	genome.wustl.edu	37	X	69572501	69572501	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:69572501G>A	ENST00000374403.3	+	14	1565	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	KIF4A_ENST00000374388.3_Missense_Mutation_p.E495K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	495					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GGTGGAGCAAGAAGCCGTAAG	0.428																																						dbGAP											0													94.0	87.0	89.0					X																	69572501		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1483G>A	X.37:g.69572501G>A	ENSP00000363524:p.Glu495Lys		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E495K	ENST00000374403.3	37	c.1483	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	6.335	0.429824	0.11987	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.69561	-0.41;-0.36	5.32	4.44	0.53790	.	0.464911	0.20165	N	0.097863	T	0.50548	0.1622	L	0.38175	1.15	0.32623	N	0.52313	B;B	0.28820	0.224;0.058	B;B	0.24269	0.034;0.052	T	0.54569	-0.8274	10	0.18276	T	0.48	.	8.8599	0.35251	0.1055:0.0:0.8945:0.0	.	495;495	O95239;O95239-2	KIF4A_HUMAN;.	K	495	ENSP00000363509:E495K;ENSP00000363524:E495K	ENSP00000363509:E495K	E	+	1	0	KIF4A	69489226	1.000000	0.71417	0.999000	0.59377	0.139000	0.21198	3.159000	0.50731	2.457000	0.83068	0.544000	0.68410	GAA	KIF4A	-	NULL	ENSG00000090889		0.428	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	114	0.00	0	G	NM_012310		69572501	69572501	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	missense	52	15.87	10	SNP	0.997	A
KIFC1	3833	genome.wustl.edu	37	6	33377466	33377466	+	Nonstop_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:33377466G>T	ENST00000428849.2	+	11	2471	c.2021G>T	c.(2020-2022)tGa>tTa	p.*674L	PHF1_ENST00000374512.3_5'Flank|PHF1_ENST00000374516.3_5'Flank	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	0					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACAGGAAGTGAAGACGGATC	0.502																																						dbGAP											0													198.0	152.0	168.0					6																	33377466		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.2021G>T	6.37:g.33377466G>T	ENSP00000393963:p.*674Leuext*29		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonstop_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.*674L	ENST00000428849.2	37	c.2021	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595544	0.28445	.	.	ENSG00000237649	ENST00000428849	.	.	.	4.58	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6886	0.34254	0.1068:0.0:0.8932:0.0	.	.	.	.	L	674	.	.	X	+	2	2	KIFC1	33485444	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	3.609000	0.54117	2.380000	0.81148	0.563000	0.77884	TGA	KIFC1	-	NULL	ENSG00000237649		0.502	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	58	0.00	0	G	NM_002263		33377466	33377466	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	nonstop	23	28.12	9	SNP	1.000	T
KLF7	8609	genome.wustl.edu	37	2	207945972	207945972	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:207945972C>G	ENST00000309446.6	-	4	1250	c.874G>C	c.(874-876)Gac>Cac	p.D292H	KLF7_ENST00000423015.1_Silent_p.L224L|KLF7_ENST00000412414.2_Missense_Mutation_p.D264H|KLF7_ENST00000458272.1_Missense_Mutation_p.D102H|KLF7_ENST00000421199.1_Missense_Mutation_p.D259H|KLF7_ENST00000467833.1_5'UTR	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	292					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GCAAGATGGTCAGACCTGGAA	0.453																																						dbGAP											0													195.0	191.0	193.0					2																	207945972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.874G>C	2.37:g.207945972C>G	ENSP00000309570:p.Asp292His		B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D292H	ENST00000309446.6	37	c.874	CCDS2373.1	2	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615988	0.66672	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000412414;ENST00000458272	T;T;T;T	0.54866	0.55;0.55;0.55;2.98	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	N	0.16130	0.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66073	-0.6014	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	264;292	B7Z4F7;O75840	.;KLF7_HUMAN	H	292;259;264;102	ENSP00000309570:D292H;ENSP00000387510:D259H;ENSP00000403284:D264H;ENSP00000393268:D102H	ENSP00000309570:D292H	D	-	1	0	KLF7	207654217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GAC	KLF7	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000118263		0.453	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	HGNC	protein_coding	OTTHUMT00000256466.2	73	0.00	0	C	NM_003709		207945972	207945972	-1	no_errors	ENST00000309446	ensembl	human	known	69_37n	missense	57	25.00	19	SNP	1.000	G
KLHL4	56062	genome.wustl.edu	37	X	86773201	86773201	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:86773201C>G	ENST00000373119.4	+	1	450	c.305C>G	c.(304-306)gCa>gGa	p.A102G	KLHL4_ENST00000373114.4_Missense_Mutation_p.A102G	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	102						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATTTTCAAGCAAATGAAGAT	0.433																																						dbGAP											0													62.0	60.0	61.0					X																	86773201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.305C>G	X.37:g.86773201C>G	ENSP00000362211:p.Ala102Gly		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A102G	ENST00000373119.4	37	c.305	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	7.482	0.648789	0.14516	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74737	-0.87;-0.83	5.05	5.05	0.67936	.	2.873240	0.01066	N	0.004727	T	0.77308	0.4111	L	0.60455	1.87	0.38452	D	0.946983	B;B	0.06786	0.001;0.001	B;B	0.15052	0.004;0.012	T	0.48163	-0.9059	10	0.34782	T	0.22	.	16.3817	0.83467	0.0:1.0:0.0:0.0	.	102;102	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	G	102	ENSP00000362211:A102G;ENSP00000362206:A102G	ENSP00000362206:A102G	A	+	2	0	KLHL4	86659857	0.994000	0.37717	1.000000	0.80357	0.665000	0.39181	0.885000	0.28227	2.327000	0.79052	0.513000	0.50165	GCA	KLHL4	-	NULL	ENSG00000102271		0.433	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	47	0.00	0	C			86773201	86773201	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.999	G
KLHL8	57563	genome.wustl.edu	37	4	88085091	88085091	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:88085091C>T	ENST00000273963.5	-	9	2019	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	KLHL8_ENST00000425278.2_Missense_Mutation_p.G377S|KLHL8_ENST00000545252.1_Missense_Mutation_p.G209S|KLHL8_ENST00000498875.2_Missense_Mutation_p.G484S|KLHL8_ENST00000512111.1_Missense_Mutation_p.G560S	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	560					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)		TTATGACCACCAACTGCAAAG	0.433																																						dbGAP											0													187.0	190.0	189.0					4																	88085091		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.1678G>A	4.37:g.88085091C>T	ENSP00000273963:p.Gly560Ser		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.G560S	ENST00000273963.5	37	c.1678	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713453	0.89112	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14	5.71	5.71	0.89125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98335	1.0535	10	0.87932	D	0	.	19.8496	0.96734	0.0:1.0:0.0:0.0	.	377;484;560	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	S	560;484;377;209;560	ENSP00000273963:G560S;ENSP00000426451:G484S;ENSP00000408854:G377S;ENSP00000439514:G209S;ENSP00000424131:G560S	ENSP00000273963:G560S	G	-	1	0	KLHL8	88304115	1.000000	0.71417	0.664000	0.29753	0.268000	0.26511	7.509000	0.81698	2.685000	0.91497	0.563000	0.77884	GGT	KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.433	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	89	0.00	0	C			88085091	88085091	-1	no_errors	ENST00000273963	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	1.000	T
KLHL8	57563	genome.wustl.edu	37	4	88106843	88106843	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:88106843C>G	ENST00000273963.5	-	3	666	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.E109Q	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		TCTCTAATCTCAATCAGCGTT	0.398																																						dbGAP											0													53.0	53.0	53.0					4																	88106843		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.325G>C	4.37:g.88106843C>G	ENSP00000273963:p.Glu109Gln		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.E109Q	ENST00000273963.5	37	c.325	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632823	0.67015	.	.	ENSG00000145332	ENST00000273963;ENST00000512111	T;T	0.68765	-0.35;-0.35	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.091491	0.85682	D	0.000000	T	0.72326	0.3446	L	0.49455	1.56	0.80722	D	1	D	0.54397	0.966	P	0.52386	0.697	T	0.67753	-0.5589	10	0.29301	T	0.29	.	19.9444	0.97176	0.0:1.0:0.0:0.0	.	109	Q9P2G9	KLHL8_HUMAN	Q	109	ENSP00000273963:E109Q;ENSP00000424131:E109Q	ENSP00000273963:E109Q	E	-	1	0	KLHL8	88325867	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.873000	0.69644	2.706000	0.92434	0.650000	0.86243	GAG	KLHL8	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000145332		0.398	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	35	0.00	0	C			88106843	88106843	-1	no_errors	ENST00000273963	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	G
KNTC1	9735	genome.wustl.edu	37	12	123065155	123065155	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:123065155C>G	ENST00000333479.7	+	33	3097	c.2920C>G	c.(2920-2922)Ctg>Gtg	p.L974V	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	974					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TACAGACAATCTGCAGAAGAA	0.289																																						dbGAP											0													67.0	62.0	64.0					12																	123065155		1819	4073	5892	-	-	-	SO:0001583	missense	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2920C>G	12.37:g.123065155C>G	ENSP00000328236:p.Leu974Val		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.L974V	ENST00000333479.7	37	c.2920	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	C	3.905	-0.021293	0.07634	.	.	ENSG00000184445	ENST00000333479	T	0.16073	2.37	5.91	4.05	0.47172	.	0.580338	0.17470	N	0.173124	T	0.11922	0.0290	L	0.36672	1.1	0.80722	D	1	B	0.20887	0.049	B	0.19148	0.024	T	0.05289	-1.0894	10	0.02654	T	1	1.5286	11.5214	0.50553	0.0:0.7003:0.2353:0.0643	.	974	P50748	KNTC1_HUMAN	V	974	ENSP00000328236:L974V	ENSP00000328236:L974V	L	+	1	2	KNTC1	121631108	0.172000	0.23043	0.606000	0.28943	0.174000	0.22865	0.582000	0.23834	0.799000	0.34018	0.462000	0.41574	CTG	KNTC1	-	superfamily_PAH	ENSG00000184445		0.289	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	51	0.00	0	C			123065155	123065155	+1	no_errors	ENST00000333479	ensembl	human	known	69_37n	missense	44	36.23	25	SNP	0.772	G
KPNA5	3841	genome.wustl.edu	37	6	117046930	117046930	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:117046930C>G	ENST00000368564.1	+	11	1164	c.1016C>G	c.(1015-1017)tCt>tGt	p.S339C	KPNA5_ENST00000356348.1_Missense_Mutation_p.S339C			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	336	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTGAATTGTTCTGCATTACCC	0.313																																						dbGAP											0													57.0	56.0	57.0					6																	117046930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1016C>G	6.37:g.117046930C>G	ENSP00000357552:p.Ser339Cys		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.S339C	ENST00000368564.1	37	c.1016	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600478	0.87055	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.69561	-0.41;-0.41	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.81942	2.565	0.58432	D	0.999997	D	0.71674	0.998	D	0.65773	0.938	T	0.81769	-0.0781	10	0.72032	D	0.01	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	336	O15131	IMA5_HUMAN	C	339	ENSP00000357552:S339C;ENSP00000348704:S339C	ENSP00000348704:S339C	S	+	2	0	KPNA5	117153623	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.543000	0.82106	2.780000	0.95670	0.655000	0.94253	TCT	KPNA5	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000196911		0.313	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	75	0.00	0	C	NM_002269		117046930	117046930	+1	no_errors	ENST00000356348	ensembl	human	known	69_37n	missense	53	27.40	20	SNP	1.000	G
KRBA1	84626	genome.wustl.edu	37	7	149421749	149421749	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:149421749G>T	ENST00000485033.2	+	8	935	c.935G>T	c.(934-936)gGa>gTa	p.G312V	KRBA1_ENST00000255992.10_Missense_Mutation_p.G312V|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G312V			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	312										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGGGCCTGGATACCTCCTG	0.607																																						dbGAP											0													18.0	23.0	21.0					7																	149421749		1744	3649	5393	-	-	-	SO:0001583	missense	0			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.935G>T	7.37:g.149421749G>T	ENSP00000420112:p.Gly312Val		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.G312V	ENST00000485033.2	37	c.935		7	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188101	0.21954	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.29655	1.56;1.56;1.56	3.74	1.69	0.24217	.	1.382880	0.05370	N	0.535205	T	0.24624	0.0597	N	0.19112	0.55	0.09310	N	0.999999	P	0.52061	0.95	P	0.47573	0.55	T	0.18587	-1.0332	10	0.54805	T	0.06	0.5826	3.7509	0.08566	0.1301:0.0:0.6286:0.2413	.	312	A5PL33	KRBA1_HUMAN	V	312	ENSP00000255992:G312V;ENSP00000317165:G312V;ENSP00000420112:G312V	ENSP00000255992:G312V	G	+	2	0	KRBA1	149052682	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.076000	0.11412	0.883000	0.36040	0.655000	0.94253	GGA	KRBA1	-	NULL	ENSG00000133619		0.607	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	33	0.00	0	G	NM_032534		149421749	149421749	+1	no_errors	ENST00000255992	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.002	T
KRT222	125113	genome.wustl.edu	37	17	38816249	38816249	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:38816249C>G	ENST00000476049.1	-	3	477	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	KRT222_ENST00000394052.3_Missense_Mutation_p.E146Q			Q8N1A0	KT222_HUMAN	keratin 222	146						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTGATTTCTTCTTTTTCTAGG	0.423																																						dbGAP											0													241.0	225.0	230.0					17																	38816249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.436G>C	17.37:g.38816249C>G	ENSP00000463483:p.Glu146Gln		Q7Z368	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E146Q	ENST00000476049.1	37	c.436	CCDS11371.1	17	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757137	0.89843	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.93307	-3.2	5.56	5.56	0.83823	Filament (1);	0.357719	0.25968	U	0.027146	D	0.96642	0.8904	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.977;1.0	D;D	0.91635	0.914;0.999	D	0.96392	0.9290	10	0.54805	T	0.06	-14.7795	19.528	0.95214	0.0:1.0:0.0:0.0	.	106;146	Q8N1A0-2;Q8N1A0	.;KT222_HUMAN	Q	106;146	ENSP00000377616:E146Q	ENSP00000377613:E106Q	E	-	1	0	KRT222	36069775	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.623000	0.88846	0.313000	0.20887	GAA	KRT222	-	pfam_F	ENSG00000213424		0.423	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KRT222	HGNC	protein_coding	OTTHUMT00000447539.1	136	0.00	0	C	NM_152349		38816249	38816249	-1	no_errors	ENST00000394052	ensembl	human	known	69_37n	missense	115	25.16	39	SNP	1.000	G
KRT24	192666	genome.wustl.edu	37	17	38859392	38859392	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:38859392T>A	ENST00000264651.2	-	1	610	c.554A>T	c.(553-555)gAc>gTc	p.D185V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	185	Linker 1.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CGATCCACCGTCTCCAGACCC	0.438																																					GBM(61;380 1051 14702 23642 31441)	dbGAP											0													146.0	145.0	145.0					17																	38859392		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.554A>T	17.37:g.38859392T>A	ENSP00000264651:p.Asp185Val		Q9NXG7	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D185V	ENST00000264651.2	37	c.554	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	T	9.937	1.216316	0.22373	.	.	ENSG00000167916	ENST00000264651	T	0.81330	-1.48	5.49	3.1	0.35709	Filament (1);	.	.	.	.	T	0.55529	0.1926	N	0.04148	-0.265	0.19575	N	0.999965	B	0.09022	0.002	B	0.12156	0.007	T	0.40627	-0.9553	9	0.28530	T	0.3	.	1.879	0.03224	0.3724:0.0771:0.1348:0.4157	.	185	Q2M2I5	K1C24_HUMAN	V	185	ENSP00000264651:D185V	ENSP00000264651:D185V	D	-	2	0	KRT24	36112918	0.000000	0.05858	0.193000	0.23327	0.010000	0.07245	0.275000	0.18698	1.007000	0.39238	0.533000	0.62120	GAC	KRT24	-	pfam_F	ENSG00000167916		0.438	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	105	0.00	0	T	NM_019016		38859392	38859392	-1	no_errors	ENST00000264651	ensembl	human	known	69_37n	missense	91	18.75	21	SNP	0.003	A
KRT76	51350	genome.wustl.edu	37	12	53165956	53165956	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:53165956G>A	ENST00000332411.2	-	5	1112	c.1059C>T	c.(1057-1059)atC>atT	p.I353I		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	353	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCGGCAATGATGCTGCCCA	0.587																																						dbGAP											0													89.0	76.0	80.0					12																	53165956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1059C>T	12.37:g.53165956G>A			B4DRR3|Q7Z795	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.I353	ENST00000332411.2	37	c.1059	CCDS8838.1	12																																																																																			KRT76	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I	ENSG00000185069		0.587	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	79	0.00	0	G	NM_015848		53165956	53165956	-1	no_errors	ENST00000332411	ensembl	human	known	69_37n	silent	58	10.45	7	SNP	1.000	A
KRTAP13-4	284827	genome.wustl.edu	37	21	31802938	31802938	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:31802938G>A	ENST00000334068.2	+	1	367	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	115						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TCAGATTCCTGAAATATGGAG	0.522																																					NSCLC(196;2401 3038 18004 35753)	dbGAP											0													101.0	85.0	90.0					21																	31802938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.345G>A	21.37:g.31802938G>A			A2RRL3	Silent	SNP	pfam_PMG	p.L115	ENST00000334068.2	37	c.345	CCDS13592.1	21																																																																																			KRTAP13-4	-	pfam_PMG	ENSG00000186971		0.522	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-4	HGNC	protein_coding	OTTHUMT00000128222.1	95	0.00	0	G			31802938	31802938	+1	no_errors	ENST00000334068	ensembl	human	known	69_37n	silent	79	24.53	26	SNP	0.000	A
KRTAP9-8	83901	genome.wustl.edu	37	17	39394360	39394360	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:39394360G>C	ENST00000254072.6	+	1	64	c.57G>C	c.(55-57)tgG>tgC	p.W19C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	19	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGGAAGCCCACCA	0.612																																						dbGAP											0													114.0	139.0	131.0					17																	39394360		2102	4300	6402	-	-	-	SO:0001583	missense	0			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.57G>C	17.37:g.39394360G>C	ENSP00000254072:p.Trp19Cys			Missense_Mutation	SNP	NULL	p.W19C	ENST00000254072.6	37	c.57	CCDS42334.1	17	.	.	.	.	.	.	.	.	.	.	.	0.390	-0.923747	0.02377	.	.	ENSG00000187272	ENST00000254072	T	0.00682	5.86	2.13	-2.32	0.06745	.	.	.	.	.	T	0.00210	0.0006	N	0.00069	-2.28	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.43909	-0.9362	9	0.02654	T	1	.	4.7177	0.12903	0.0:0.2276:0.2546:0.5178	.	19	Q9BYQ0	KRA98_HUMAN	C	19	ENSP00000254072:W19C	ENSP00000254072:W19C	W	+	3	0	KRTAP9-8	36647886	0.991000	0.36638	0.020000	0.16555	0.903000	0.53119	0.698000	0.25571	-0.427000	0.07350	0.306000	0.20318	TGG	KRTAP9-8	-	NULL	ENSG00000187272		0.612	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-8	HGNC	protein_coding	OTTHUMT00000257712.1	130	0.00	0	G			39394360	39394360	+1	no_errors	ENST00000254072	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	0.012	C
KTN1	3895	genome.wustl.edu	37	14	56101368	56101368	+	Nonsense_Mutation	SNP	C	C	T	rs571417881		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:56101368C>T	ENST00000395314.3	+	9	1521	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	KTN1_ENST00000416613.1_Nonsense_Mutation_p.Q485*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.Q485*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.Q485*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.Q485*|KTN1_ENST00000395311.1_Nonsense_Mutation_p.Q485*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.Q485*	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	485					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGCAGCTACTCAGTTGAAGGT	0.413			T	RET	papillary thryoid																																	dbGAP		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													70.0	64.0	66.0					14																	56101368		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1453C>T	14.37:g.56101368C>T	ENSP00000378725:p.Gln485*		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Nonsense_Mutation	SNP	NULL	p.Q485*	ENST00000395314.3	37	c.1453	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.534577	0.98342	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.48	5.48	0.80851	.	0.000000	0.49305	D	0.000158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9104	19.346	0.94362	0.0:1.0:0.0:0.0	.	.	.	.	X	485	.	ENSP00000378719:Q485X	Q	+	1	0	KTN1	55171121	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.026000	0.70873	2.560000	0.86352	0.563000	0.77884	CAG	KTN1	-	NULL	ENSG00000126777		0.413	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	26	0.00	0	C			56101368	56101368	+1	no_errors	ENST00000395309	ensembl	human	known	69_37n	nonsense	31	18.42	7	SNP	1.000	T
KYNU	8942	genome.wustl.edu	37	2	143799654	143799654	+	Silent	SNP	A	A	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:143799654A>C	ENST00000264170.4	+	14	1569	c.1311A>C	c.(1309-1311)ccA>ccC	p.P437P	KYNU_ENST00000409512.1_Silent_p.P437P	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		Gagtggctccagttcctctct	0.358																																						dbGAP											0													131.0	130.0	130.0					2																	143799654		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1311A>C	2.37:g.143799654A>C				Silent	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	p.P437	ENST00000264170.4	37	c.1311	CCDS2183.1	2																																																																																			KYNU	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	ENSG00000115919		0.358	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000254772.1	139	0.71	1	A	NM_001032998		143799654	143799654	+1	no_errors	ENST00000264170	ensembl	human	known	69_37n	silent	86	16.50	17	SNP	0.676	C
L3MBTL1	26013	genome.wustl.edu	37	20	42169646	42169646	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:42169646G>C	ENST00000427442.2	+	22	2560	c.2401G>C	c.(2401-2403)Gtg>Ctg	p.V801L	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.V733L|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.V801L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGGGGACCTTGTGTGCTCAGA	0.522																																						dbGAP											0													131.0	107.0	115.0					20																	42169646		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2401G>C	20.37:g.42169646G>C	ENSP00000402107:p.Val801Leu		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.V801L	ENST00000427442.2	37	c.2401	CCDS46602.2	20	.	.	.	.	.	.	.	.	.	.	G	9.824	1.186645	0.21870	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135	T;T;T	0.18502	2.24;2.24;2.21	2.85	-1.5	0.08691	.	0.786157	0.09900	N	0.741218	T	0.06872	0.0175	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.34502	-0.9826	10	0.46703	T	0.11	.	0.7	0.00906	0.3099:0.2749:0.2629:0.1523	.	801;121;733	Q9Y468-5;Q6ZWF5;Q9Y468-1	.;.;.	L	801;801;733	ENSP00000402107:V801L;ENSP00000398516:V801L;ENSP00000362227:V733L	ENSP00000362227:V733L	V	+	1	0	L3MBTL1	41603060	0.099000	0.21834	0.000000	0.03702	0.627000	0.37826	1.967000	0.40491	-0.311000	0.08754	0.557000	0.71058	GTG	L3MBTL1	-	superfamily_SAM/pointed	ENSG00000185513		0.522	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	78	0.00	0	G	NM_032107		42169646	42169646	+1	no_errors	ENST00000418998	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	0.000	C
LAMA1	284217	genome.wustl.edu	37	18	6965413	6965413	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:6965413C>G	ENST00000389658.3	-	50	7162	c.7069G>C	c.(7069-7071)Gag>Cag	p.E2357Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2357	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGAAACAGCTCGATGGATAAA	0.438																																						dbGAP											0													91.0	89.0	90.0					18																	6965413		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7069G>C	18.37:g.6965413C>G	ENSP00000374309:p.Glu2357Gln			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E2357Q	ENST00000389658.3	37	c.7069	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643992	0.87859	.	.	ENSG00000101680	ENST00000389658	T	0.77358	-1.09	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.056963	0.64402	D	0.000003	D	0.88753	0.6522	M	0.75264	2.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.75484	0.986	D	0.87713	0.2568	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2357	P25391	LAMA1_HUMAN	Q	2357	ENSP00000374309:E2357Q	ENSP00000374309:E2357Q	E	-	1	0	LAMA1	6955413	1.000000	0.71417	0.988000	0.46212	0.735000	0.41995	6.872000	0.75536	2.941000	0.99782	0.655000	0.94253	GAG	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	62	0.00	0	C	NM_005559		6965413	6965413	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	G
LARP4B	23185	genome.wustl.edu	37	10	890933	890933	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:890933C>T	ENST00000316157.3	-	5	533	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	165	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AAGCAGAATTCCAATGTTTTT	0.353																																						dbGAP											0													128.0	120.0	123.0					10																	890933		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.493G>A	10.37:g.890933C>T	ENSP00000326128:p.Glu165Lys		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.E165K	ENST00000316157.3	37	c.493	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.411056	0.96072	.	.	ENSG00000107929	ENST00000316157	T	0.69806	-0.43	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91313	0.5076	10	0.87932	D	0	-31.2301	20.0781	0.97751	0.0:1.0:0.0:0.0	.	165	Q92615	LAR4B_HUMAN	K	165	ENSP00000326128:E165K	ENSP00000326128:E165K	E	-	1	0	LARP4B	880933	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.180000	0.71981	2.817000	0.96982	0.563000	0.77884	GAA	LARP4B	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000107929		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	96	0.00	0	C	NM_015155		890933	890933	-1	no_errors	ENST00000316157	ensembl	human	known	69_37n	missense	90	21.55	25	SNP	1.000	T
LARP4B	23185	genome.wustl.edu	37	10	890992	890992	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:890992C>A	ENST00000316157.3	-	5	474	c.434G>T	c.(433-435)gGa>gTa	p.G145V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	145					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGACTCATTTCCTCCTACATA	0.388																																						dbGAP											0													106.0	101.0	103.0					10																	890992		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.434G>T	10.37:g.890992C>A	ENSP00000326128:p.Gly145Val		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.G145V	ENST00000316157.3	37	c.434	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237728	0.39598	.	.	ENSG00000107929	ENST00000316157	T	0.34072	1.38	5.65	4.73	0.59995	.	0.207319	0.50627	D	0.000118	T	0.17746	0.0426	N	0.08118	0	0.58432	D	0.999998	P	0.35411	0.5	B	0.28465	0.09	T	0.07290	-1.0780	10	0.72032	D	0.01	0.4279	11.0099	0.47657	0.0:0.7984:0.1307:0.0708	.	145	Q92615	LAR4B_HUMAN	V	145	ENSP00000326128:G145V	ENSP00000326128:G145V	G	-	2	0	LARP4B	880992	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.803000	0.38863	2.817000	0.96982	0.563000	0.77884	GGA	LARP4B	-	NULL	ENSG00000107929		0.388	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	91	0.00	0	C	NM_015155		890992	890992	-1	no_errors	ENST00000316157	ensembl	human	known	69_37n	missense	64	33.33	33	SNP	1.000	A
LGALS3	3958	genome.wustl.edu	37	14	55611885	55611885	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:55611885C>T	ENST00000254301.9	+	6	910	c.649C>T	c.(649-651)Cac>Tac	p.H217Y		NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	217	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GAATGATGCTCACTTGTTGCA	0.393																																						dbGAP											0													151.0	145.0	147.0					14																	55611885		1922	4128	6050	-	-	-	SO:0001583	missense	0			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.649C>T	14.37:g.55611885C>T	ENSP00000254301:p.His217Tyr		B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.H217Y	ENST00000254301.9	37	c.649	CCDS41956.1	14	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158783	0.78226	.	.	ENSG00000131981	ENST00000254301	T	0.07688	3.17	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.095940	0.64402	D	0.000001	T	0.32071	0.0817	M	0.79693	2.465	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.01341	-1.1380	10	0.87932	D	0	-18.9874	19.0536	0.93054	0.0:1.0:0.0:0.0	.	217	P17931	LEG3_HUMAN	Y	217	ENSP00000254301:H217Y	ENSP00000254301:H217Y	H	+	1	0	LGALS3	54681638	0.988000	0.35896	0.455000	0.27031	0.749000	0.42624	4.340000	0.59328	2.806000	0.96561	0.655000	0.94253	CAC	LGALS3	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000131981		0.393	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3	HGNC	protein_coding	OTTHUMT00000411309.1	52	0.00	0	C	NM_002306		55611885	55611885	+1	no_errors	ENST00000254301	ensembl	human	known	69_37n	missense	59	10.61	7	SNP	0.991	T
LGALS9	3965	genome.wustl.edu	37	17	25974091	25974091	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:25974091G>A	ENST00000395473.2	+	9	2173	c.705G>A	c.(703-705)ctG>ctA	p.L235L	LGALS9_ENST00000413914.2_Silent_p.L178L|LGALS9_ENST00000313648.6_Silent_p.L203L|LGALS9_ENST00000302228.5_Silent_p.L203L|LGALS9_ENST00000310394.5_Silent_p.L191L	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	235	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGGGAGGGCTGTACCCATCCA	0.582																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	dbGAP											0													146.0	126.0	133.0					17																	25974091		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.705G>A	17.37:g.25974091G>A			A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl	p.V94I	ENST00000395473.2	37	c.280	CCDS11222.1	17																																																																																			LGALS9	-	superfamily_ConA-like_lec_gl	ENSG00000168961		0.582	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	102	0.00	0	G	NM_009587		25974091	25974091	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000581710	ensembl	human	novel	69_37n	missense	52	28.77	21	SNP	0.993	A
LHCGR	3973	genome.wustl.edu	37	2	48915041	48915041	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:48915041C>G	ENST00000294954.7	-	11	1916	c.1895G>C	c.(1894-1896)aGa>aCa	p.R632T	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R570T|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605T|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	632					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGAAATCTCTTTGGAATGT	0.358																																						dbGAP											0													85.0	90.0	88.0					2																	48915041		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1895G>C	2.37:g.48915041C>G	ENSP00000294954:p.Arg632Thr		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.R632T	ENST00000294954.7	37	c.1895	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148702	0.57151	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.95853	-3.83;-3.83;-3.83	5.92	5.05	0.67936	.	0.091723	0.64402	D	0.000001	D	0.97829	0.9287	M	0.89214	3.015	0.44619	D	0.997598	D	0.64830	0.994	D	0.74348	0.983	D	0.98346	1.0541	9	.	.	.	.	14.0743	0.64880	0.0:0.928:0.0:0.072	.	632	P22888	LSHR_HUMAN	T	570;632;605	ENSP00000344301:R570T;ENSP00000294954:R632T;ENSP00000386033:R605T	.	R	-	2	0	LHCGR	48768545	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.201000	0.51059	1.503000	0.48686	0.585000	0.79938	AGA	LHCGR	-	prints_Gphrmn_rcpt	ENSG00000138039		0.358	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	25	0.00	0	C	NM_000233.3		48915041	48915041	-1	no_errors	ENST00000294954	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	G
LILRA6	79168	genome.wustl.edu	37	19	54745967	54745967	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:54745967C>G	ENST00000396365.2	-	3	329	c.290G>C	c.(289-291)cGc>cCc	p.R97P	LILRB3_ENST00000407860.2_Missense_Mutation_p.R97P|LILRA6_ENST00000419410.2_Missense_Mutation_p.R97P|LILRA6_ENST00000440558.2_Missense_Mutation_p.R97P|LILRA6_ENST00000270464.5_Missense_Mutation_p.R97P|LILRA6_ENST00000391735.3_Missense_Mutation_p.R97P|LILRA6_ENST00000245621.5_Missense_Mutation_p.R97P	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	97					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATAGTGGCAGCGGTATCTCCC	0.592																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.290G>C	19.37:g.54745967C>G	ENSP00000379651:p.Arg97Pro			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R97P	ENST00000396365.2	37	c.290	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965068	0.34659	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53	3.4	-6.8	0.01709	Immunoglobulin-like fold (1);	1.366880	0.04562	N	0.391757	T	0.46464	0.1394	H	0.98370	4.215	0.09310	N	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.995;1.0;1.0;0.992;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.989;0.964;0.988;0.968;0.995;0.993;0.923;0.998;0.999;0.999	T	0.58544	-0.7618	10	0.72032	D	0.01	.	2.8263	0.05486	0.1243:0.4411:0.2505:0.184	.	97;97;97;97;97;97;97;97;97;97	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	P	97	ENSP00000384274:R97P;ENSP00000390120:R97P;ENSP00000270464:R97P;ENSP00000411227:R97P;ENSP00000375615:R97P;ENSP00000379651:R97P;ENSP00000245621:R97P	ENSP00000245621:R97P	R	-	2	0	LILRB3;LILRA6	59437779	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.381000	0.00127	-2.541000	0.00485	0.184000	0.17185	CGC	LILRB3	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000204577		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000313725.1	323	0.00	0	C	NM_024318		54745967	54745967	-1	no_errors	ENST00000407860	ensembl	human	known	69_37n	missense	242	15.97	46	SNP	0.000	G
LIN7A	8825	genome.wustl.edu	37	12	81205439	81205439	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:81205439C>G	ENST00000552864.1	-	5	709	c.507G>C	c.(505-507)gaG>gaC	p.E169D		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	169	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCACAGCTTTCTCATGGTGTT	0.438																																						dbGAP											0													124.0	107.0	113.0					12																	81205439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.507G>C	12.37:g.81205439C>G	ENSP00000447488:p.Glu169Asp		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.E169D	ENST00000552864.1	37	c.507	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318113	0.60524	.	.	ENSG00000111052	ENST00000552864	T	0.26660	1.72	5.13	4.24	0.50183	PDZ/DHR/GLGF (4);	0.095294	0.64402	D	0.000001	T	0.22704	0.0548	N	0.11870	0.19	0.58432	D	0.999999	P	0.41131	0.739	P	0.49528	0.614	T	0.08513	-1.0718	10	0.87932	D	0	-17.8925	10.821	0.46604	0.0:0.8476:0.0:0.1524	.	169	O14910	LIN7A_HUMAN	D	169	ENSP00000447488:E169D	ENSP00000447488:E169D	E	-	3	2	LIN7A	79729570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.412000	0.34714	1.174000	0.42811	0.591000	0.81541	GAG	LIN7A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ	ENSG00000111052		0.438	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	69	0.00	0	C			81205439	81205439	-1	no_errors	ENST00000552864	ensembl	human	known	69_37n	missense	54	21.74	15	SNP	1.000	G
LIPN	643418	genome.wustl.edu	37	10	90521981	90521981	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:90521981G>C	ENST00000404459.1	+	2	145	c.145G>C	c.(145-147)Gag>Cag	p.E49Q		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	49					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCCAGTGAAGAGTATGAAGT	0.413																																						dbGAP											0													61.0	60.0	60.0					10																	90521981		1886	4131	6017	-	-	-	SO:0001583	missense	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.145G>C	10.37:g.90521981G>C	ENSP00000383923:p.Glu49Gln		A7KIH9	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.E49Q	ENST00000404459.1	37	c.145	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939685	0.92526	.	.	ENSG00000204020	ENST00000404459	D	0.87966	-2.32	5.75	5.75	0.90469	Partial AB-hydrolase lipase domain (1);	0.208574	0.33834	N	0.004518	D	0.93517	0.7931	M	0.78801	2.425	0.41496	D	0.988256	D	0.89917	1.0	D	0.77004	0.989	D	0.93142	0.6542	10	0.49607	T	0.09	-20.358	18.7095	0.91651	0.0:0.0:1.0:0.0	.	49	Q5VXI9	LIPN_HUMAN	Q	49	ENSP00000383923:E49Q	ENSP00000383923:E49Q	E	+	1	0	LIPN	90511961	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.909000	0.87444	2.732000	0.93576	0.650000	0.86243	GAG	LIPN	-	pfam_AB_hydrolase_lipase	ENSG00000204020		0.413	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	73	0.00	0	G	XM_926751		90521981	90521981	+1	no_errors	ENST00000404459	ensembl	human	known	69_37n	missense	31	28.89	13	SNP	1.000	C
LMTK2	22853	genome.wustl.edu	37	7	97816228	97816228	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:97816228C>T	ENST00000297293.5	+	9	1209	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGTTTTCCCTCTGCGATGGAC	0.363																																						dbGAP											0													110.0	104.0	106.0					7																	97816228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.916C>T	7.37:g.97816228C>T			A4D272|Q75MG7|Q9UPS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L306	ENST00000297293.5	37	c.916	CCDS5654.1	7																																																																																			LMTK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000164715		0.363	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	78	0.00	0	C	NM_014916		97816228	97816228	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	silent	72	17.05	15	SNP	1.000	T
LONRF2	164832	genome.wustl.edu	37	2	100911929	100911929	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:100911929C>G	ENST00000393437.3	-	8	2202	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	LONRF2_ENST00000409647.1_Missense_Mutation_p.K278N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	521							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CATAAATTCTCTTCCTATCAG	0.348																																						dbGAP											0													160.0	156.0	157.0					2																	100911929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1563G>C	2.37:g.100911929C>G	ENSP00000377086:p.Lys521Asn		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.K521N	ENST00000393437.3	37	c.1563	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021355	0.54576	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.86030	-1.92;-2.06	4.12	1.16	0.20824	.	0.116197	0.56097	D	0.000029	D	0.83543	0.5277	M	0.62723	1.935	0.51767	D	0.999934	P	0.46784	0.884	P	0.48952	0.596	T	0.79841	-0.1633	10	0.59425	D	0.04	-11.8727	5.8302	0.18577	0.0:0.6133:0.1427:0.244	.	521	Q1L5Z9	LONF2_HUMAN	N	521;278	ENSP00000377086:K521N;ENSP00000386823:K278N	ENSP00000377086:K521N	K	-	3	2	LONRF2	100278361	1.000000	0.71417	0.970000	0.41538	0.809000	0.45718	0.970000	0.29383	0.301000	0.22738	-0.175000	0.13238	AAG	LONRF2	-	NULL	ENSG00000170500		0.348	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	125	0.00	0	C	NM_198461		100911929	100911929	-1	no_errors	ENST00000393437	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	1.000	G
LOX	4015	genome.wustl.edu	37	5	121412813	121412813	+	Intron	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:121412813G>C	ENST00000231004.4	-	2	931				LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase						blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTGCAGAGTGGAGCGGAGGAC	0.642											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.632-117C>G	5.37:g.121412813G>C		1511	B2R5Q3|Q5FWF0	RNA	SNP	-	NULL	ENST00000231004.4	37	NULL	CCDS4129.1	5																																																																																			LOX	-	-	ENSG00000113083		0.642	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOX	HGNC	protein_coding	OTTHUMT00000250887.2	10	0.00	0	G			121412813	121412813	-1	no_errors	ENST00000513319	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.000	C
LRBA	987	genome.wustl.edu	37	4	151511904	151511904	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:151511904G>A	ENST00000357115.3	-	40	6430	c.6187C>T	c.(6187-6189)Ctg>Ttg	p.L2063L	LRBA_ENST00000507224.1_Silent_p.L2052L|LRBA_ENST00000510413.1_Silent_p.L2052L|LRBA_ENST00000535741.1_Silent_p.L2052L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2063						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACGGATGACAGAGTATCATCA	0.413																																						dbGAP											0													122.0	112.0	115.0					4																	151511904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6187C>T	4.37:g.151511904G>A			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.L2063	ENST00000357115.3	37	c.6187	CCDS3773.1	4																																																																																			LRBA	-	NULL	ENSG00000198589		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	84	0.00	0	G			151511904	151511904	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	silent	53	14.52	9	SNP	1.000	A
LRFN4	78999	genome.wustl.edu	37	11	66627650	66627650	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:66627650A>G	ENST00000309602.4	+	2	2135	c.1892A>G	c.(1891-1893)gAa>gGa	p.E631G	PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	631						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GAGCGGCTGGAAGAGAGTGTG	0.721																																						dbGAP											0													14.0	20.0	18.0					11																	66627650		1966	3941	5907	-	-	-	SO:0001583	missense	0			BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1892A>G	11.37:g.66627650A>G	ENSP00000312535:p.Glu631Gly		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E631G	ENST00000309602.4	37	c.1892	CCDS8153.1	11	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796874	0.31777	.	.	ENSG00000173621	ENST00000309602	T	0.53640	0.61	5.03	5.03	0.67393	.	0.311612	0.22924	N	0.053994	T	0.37652	0.1011	L	0.29908	0.895	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.22765	-1.0207	10	0.62326	D	0.03	.	12.6764	0.56897	1.0:0.0:0.0:0.0	.	631	Q6PJG9	LRFN4_HUMAN	G	631	ENSP00000312535:E631G	ENSP00000312535:E631G	E	+	2	0	LRFN4	66384226	0.248000	0.23930	0.497000	0.27552	0.206000	0.24218	0.952000	0.29149	1.890000	0.54733	0.334000	0.21626	GAA	LRFN4	-	NULL	ENSG00000173621		0.721	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN4	HGNC	protein_coding	OTTHUMT00000393127.1	42	0.00	0	A	NM_024036		66627650	66627650	+1	no_errors	ENST00000309602	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.822	G
LRP2	4036	genome.wustl.edu	37	2	169995791	169995791	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:169995791G>C	ENST00000263816.3	-	74	13643	c.13358C>G	c.(13357-13359)tCc>tGc	p.S4453C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4453					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGGCAAAAGGGAGCCGGTCCT	0.468																																						dbGAP											0													77.0	80.0	79.0					2																	169995791		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13358C>G	2.37:g.169995791G>C	ENSP00000263816:p.Ser4453Cys		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4453C	ENST00000263816.3	37	c.13358	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063426	0.76187	.	.	ENSG00000081479	ENST00000263816	D	0.90133	-2.62	5.53	5.53	0.82687	.	0.246287	0.42821	D	0.000644	D	0.90177	0.6930	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	P	0.59643	0.861	D	0.90959	0.4811	10	0.59425	D	0.04	.	14.3238	0.66505	0.0:0.0:0.8518:0.1482	.	4453	P98164	LRP2_HUMAN	C	4453	ENSP00000263816:S4453C	ENSP00000263816:S4453C	S	-	2	0	LRP2	169704037	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.783000	0.68982	2.604000	0.88044	0.557000	0.71058	TCC	LRP2	-	NULL	ENSG00000081479		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	32	0.00	0	G	NM_004525		169995791	169995791	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	C
LRP4	4038	genome.wustl.edu	37	11	46920202	46920202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:46920202C>A	ENST00000378623.1	-	7	945	c.703G>T	c.(703-705)Gag>Tag	p.E235*		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	235	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACATGAACTCCCCAGAGCGG	0.592																																						dbGAP											0													151.0	146.0	148.0					11																	46920202		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.703G>T	11.37:g.46920202C>A	ENSP00000367888:p.Glu235*		B2RN39|Q4AC85|Q5KTZ5	Nonsense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E235*	ENST00000378623.1	37	c.703	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.913236	0.97932	.	.	ENSG00000134569	ENST00000378623	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.11	0.93313	0.0:1.0:0.0:0.0	.	.	.	.	X	235	.	ENSP00000367888:E235X	E	-	1	0	LRP4	46876778	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.530000	0.85305	0.561000	0.74099	GAG	LRP4	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000134569		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	42	0.00	0	C	NM_002334		46920202	46920202	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	nonsense	22	21.43	6	SNP	1.000	A
LRP6	4040	genome.wustl.edu	37	12	12315287	12315287	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:12315287G>C	ENST00000261349.4	-	10	2195	c.2119C>G	c.(2119-2121)Cca>Gca	p.P707A	LRP6_ENST00000543091.1_Missense_Mutation_p.P707A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	707	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATGCCTTCTGGATAATCTAAG	0.468																																						dbGAP											0													204.0	178.0	187.0					12																	12315287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2119C>G	12.37:g.12315287G>C	ENSP00000261349:p.Pro707Ala		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P707A	ENST00000261349.4	37	c.2119	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976937	0.92982	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.99532	-6.1;-6.1	6.02	6.02	0.97574	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.99585	0.9850	M	0.81614	2.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.957	D	0.99940	1.1398	10	0.22109	T	0.4	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	707;707	F5H7J9;O75581	.;LRP6_HUMAN	A	707	ENSP00000261349:P707A;ENSP00000442472:P707A	ENSP00000261349:P707A	P	-	1	0	LRP6	12206554	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	CCA	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.468	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	57	0.00	0	G			12315287	12315287	-1	no_errors	ENST00000261349	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	C
LRRC16A	55604	genome.wustl.edu	37	6	25471441	25471441	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:25471441C>T	ENST00000329474.6	+	10	1103	c.735C>T	c.(733-735)tcC>tcT	p.S245S	LRRC16A_ENST00000377969.3_Silent_p.S84S	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	245					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGAGTAGGTCCAATCGACTGG	0.363																																						dbGAP											0													151.0	148.0	149.0					6																	25471441		1853	4095	5948	-	-	-	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.735C>T	6.37:g.25471441C>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	NULL	p.S84	ENST00000329474.6	37	c.252	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.363	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	107	0.00	0	C	NM_017640		25471441	25471441	+1	no_errors	ENST00000377969	ensembl	human	known	69_37n	silent	74	25.74	26	SNP	1.000	T
LRRC16B	90668	genome.wustl.edu	37	14	24534912	24534912	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:24534912C>T	ENST00000342740.5	+	34	3632	c.3478C>T	c.(3478-3480)Ccc>Tcc	p.P1160S	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1160						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTTGCCCTTCCCGGGTTGGA	0.602																																						dbGAP											0													119.0	107.0	111.0					14																	24534912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3478C>T	14.37:g.24534912C>T	ENSP00000340467:p.Pro1160Ser		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1160S	ENST00000342740.5	37	c.3478	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419003	0.62622	.	.	ENSG00000186648	ENST00000342740	T	0.15603	2.41	5.4	5.4	0.78164	.	0.000000	0.47093	D	0.000249	T	0.26846	0.0657	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02588	-1.1137	10	0.44086	T	0.13	-18.0241	14.6697	0.68934	0.0:1.0:0.0:0.0	.	1160	Q8ND23	LR16B_HUMAN	S	1160	ENSP00000340467:P1160S	ENSP00000340467:P1160S	P	+	1	0	LRRC16B	23604752	0.997000	0.39634	1.000000	0.80357	0.720000	0.41350	2.186000	0.42593	2.522000	0.85027	0.655000	0.94253	CCC	LRRC16B	-	NULL	ENSG00000186648		0.602	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	45	0.00	0	C	NM_138360		24534912	24534912	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	missense	38	29.09	16	SNP	1.000	T
LRRC27	80313	genome.wustl.edu	37	10	134151163	134151163	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:134151163G>C	ENST00000368614.3	+	3	410	c.305G>C	c.(304-306)aGa>aCa	p.R102T	LRRC27_ENST00000392638.2_Missense_Mutation_p.R102T|LRRC27_ENST00000368612.1_Missense_Mutation_p.R40T|LRRC27_ENST00000368615.3_Missense_Mutation_p.R102T|LRRC27_ENST00000368613.4_Missense_Mutation_p.R102T|LRRC27_ENST00000368610.3_Missense_Mutation_p.R40T|LRRC27_ENST00000356571.4_Missense_Mutation_p.R102T|LRRC27_ENST00000344079.5_Missense_Mutation_p.R102T|LRRC27_ENST00000432555.2_5'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CGGTACAATAGAATTAAAGCG	0.433																																						dbGAP											0													87.0	84.0	85.0					10																	134151163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.305G>C	10.37:g.134151163G>C	ENSP00000357603:p.Arg102Thr		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R102T	ENST00000368614.3	37	c.305	CCDS31316.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.188|9.188	1.025396|1.025396	0.19512|0.19512	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000450442|ENST00000368615;ENST00000392638;ENST00000344079;ENST00000356571;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	.|T;T;T;T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	4.73|4.73	-2.75|-2.75	0.05914|0.05914	.|.	.|1.020770	.|0.07842	.|N	.|0.963184	T|T	0.50820|0.50820	0.1638|0.1638	M|M	0.71920|0.71920	2.185|2.185	0.09310|0.09310	N|N	0.999999|0.999999	.|P;B;B;P	.|0.35272	.|0.493;0.21;0.157;0.493	.|B;B;B;B	.|0.36808	.|0.167;0.066;0.233;0.206	T|T	0.54357|0.54357	-0.8306|-0.8306	5|10	.|0.66056	.|D	.|0.02	-3.547|-3.547	9.5999|9.5999	0.39598|0.39598	0.7352:0.0:0.2648:0.0|0.7352:0.0:0.2648:0.0	.|.	.|102;40;102;102	.|Q9C0I9-4;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.|.;.;LRC27_HUMAN;.	Q|T	54|102;102;102;102;102;102;40;40	.|ENSP00000357604:R102T;ENSP00000376413:R102T;ENSP00000342641:R102T;ENSP00000348978:R102T;ENSP00000357603:R102T;ENSP00000357602:R102T;ENSP00000357601:R40T;ENSP00000357599:R40T	.|ENSP00000342641:R102T	E|R	+|+	1|2	0|0	LRRC27|LRRC27	134001153|134001153	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.054000|0.054000	0.14205|0.14205	-0.275000|-0.275000	0.09219|0.09219	-0.777000|-0.777000	0.03380|0.03380	GAA|AGA	LRRC27	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148814		0.433	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	77	0.00	0	G	XM_290462		134151163	134151163	+1	no_errors	ENST00000368613	ensembl	human	known	69_37n	missense	64	28.89	26	SNP	0.000	C
LRRC31	79782	genome.wustl.edu	37	3	169569447	169569447	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:169569447G>C	ENST00000316428.5	-	7	1176	c.1119C>G	c.(1117-1119)atC>atG	p.I373M	LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000264676.5_Missense_Mutation_p.I317M|LRRC31_ENST00000523069.1_Missense_Mutation_p.I373M	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	373										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACAGTTGTTGATAACTAATG	0.413																																						dbGAP											0													117.0	113.0	114.0					3																	169569447		1849	4107	5956	-	-	-	SO:0001583	missense	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1119C>G	3.37:g.169569447G>C	ENSP00000325978:p.Ile373Met		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I373M	ENST00000316428.5	37	c.1119	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304190	0.60305	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.55052	0.54;0.54;0.54	4.89	-0.311	0.12761	.	0.369874	0.30704	N	0.009041	T	0.49047	0.1534	L	0.52266	1.64	0.22378	N	0.999152	D;P	0.53885	0.963;0.901	P;P	0.51385	0.668;0.468	T	0.43343	-0.9397	10	0.59425	D	0.04	0.3527	5.6581	0.17654	0.289:0.0:0.5873:0.1238	.	317;373	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	M	373;317;373	ENSP00000325978:I373M;ENSP00000264676:I317M;ENSP00000429145:I373M	ENSP00000264676:I317M	I	-	3	3	LRRC31	171052141	1.000000	0.71417	0.208000	0.23602	0.392000	0.30506	1.185000	0.32065	-0.111000	0.12001	-0.368000	0.07277	ATC	LRRC31	-	NULL	ENSG00000114248		0.413	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	115	0.00	0	G	NM_024727		169569447	169569447	-1	no_errors	ENST00000316428	ensembl	human	known	69_37n	missense	83	31.97	39	SNP	0.811	C
LRRC37A4P	55073	genome.wustl.edu	37	17	43587646	43587646	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:43587646C>T	ENST00000579913.1	-	0	1407				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		TAATGACCTTCGGTGACAACA	0.328																																						dbGAP											0																																										-	-	-			0			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587646C>T				RNA	SNP	-	NULL	ENST00000579913.1	37	NULL		17																																																																																			LRRC37A4P	-	-	ENSG00000214425		0.328	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1	149	0.00	0	C	NR_002940		43587646	43587646	-1	no_errors	ENST00000579913	ensembl	human	known	69_37n	rna	123	10.22	14	SNP	0.001	T
LRRC37A4P	55073	genome.wustl.edu	37	17	43587660	43587660	+	RNA	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:43587660C>A	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GACAACACATCTGTTTTAGAA	0.323																																						dbGAP											0																																										-	-	-			0			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587660C>A				Splice_Site	SNP	-	NULL	ENST00000579913.1	37	c.NULL		17																																																																																			LRRC37A4P	-	-	ENSG00000214425		0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1	162	0.00	0	C	NR_002940		43587660	43587660	-1	no_errors	ENST00000579913	ensembl	human	known	69_37n	splice_site	133	11.33	17	SNP	0.984	A
LRRC8A	56262	genome.wustl.edu	37	9	131670394	131670394	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:131670394C>G	ENST00000259324.5	+	3	1474	c.951C>G	c.(949-951)ctC>ctG	p.L317L	LRRC8A_ENST00000372599.3_Silent_p.L317L|LRRC8A_ENST00000372600.4_Silent_p.L317L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	317					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGGCCACACTCTTCAAGATCC	0.562																																						dbGAP											0													220.0	163.0	182.0					9																	131670394		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.951C>G	9.37:g.131670394C>G			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L317	ENST00000259324.5	37	c.951	CCDS35155.1	9																																																																																			LRRC8A	-	NULL	ENSG00000136802		0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	75	0.00	0	C	NM_019594		131670394	131670394	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	silent	29	31.82	14	SNP	1.000	G
LRRIQ1	84125	genome.wustl.edu	37	12	85626496	85626496	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:85626496G>C	ENST00000393217.2	+	26	5039	c.4978G>C	c.(4978-4980)Gat>Cat	p.D1660H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1660										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCCTGAGTTAGATCCAGATGT	0.333																																						dbGAP											0													142.0	126.0	131.0					12																	85626496		1852	4086	5938	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4978G>C	12.37:g.85626496G>C	ENSP00000376910:p.Asp1660His		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.D1660H	ENST00000393217.2	37	c.4978	CCDS41816.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.002356|3.002356	0.54254|0.54254	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.56776|.	0.44|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|.	.|.	.|.	.|.	T|.	0.52240|.	0.1722|.	N|N	0.19112|0.19112	0.55|0.55	0.37765|0.37765	D|D	0.926455|0.926455	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.52668|.	-0.8545|.	9|.	0.62326|.	D|.	0.03|.	.|.	17.0278|17.0278	0.86452|0.86452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1660|.	Q96JM4|.	LRIQ1_HUMAN|.	H|Y	1660|80	ENSP00000376910:D1660H|.	ENSP00000376910:D1660H|.	D|X	+|+	1|3	0|2	LRRIQ1|LRRIQ1	84150627|84150627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.966000|3.966000	0.56795|0.56795	2.624000|2.624000	0.88883|0.88883	0.650000|0.650000	0.86243|0.86243	GAT|TAG	LRRIQ1	-	NULL	ENSG00000133640		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	152	0.00	0	G	NM_032165		85626496	85626496	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	114	24.84	38	SNP	1.000	C
LYPLA1	10434	genome.wustl.edu	37	8	55013291	55013291	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:55013291G>A	ENST00000316963.3	-	2	295				LYPLA1_ENST00000519926.1_Intron|LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000343231.6_Intron	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I						fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACTCACGATGATAAGGGGAA	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.101+176C>T	8.37:g.55013291G>A			O43202|Q9UQF9	RNA	SNP	-	NULL	ENST00000316963.3	37	NULL	CCDS6157.1	8																																																																																			LYPLA1	-	-	ENSG00000120992		0.343	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	HGNC	protein_coding	OTTHUMT00000378238.1	23	0.00	0	G			55013291	55013291	-1	no_errors	ENST00000521856	ensembl	human	putative	69_37n	rna	8	42.86	6	SNP	0.058	A
LYST	1130	genome.wustl.edu	37	1	235969147	235969147	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:235969147C>T	ENST00000389794.3	-	6	3463	c.3289G>A	c.(3289-3291)Gag>Aag	p.E1097K	LYST_ENST00000536965.1_Missense_Mutation_p.E1097K|LYST_ENST00000389793.2_Missense_Mutation_p.E1097K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1097					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGTGAGGTCTCACTTTCTTGA	0.408																																						dbGAP											0													84.0	82.0	83.0					1																	235969147		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3289G>A	1.37:g.235969147C>T	ENSP00000374444:p.Glu1097Lys		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1097K	ENST00000389794.3	37	c.3289	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220633	0.79464	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68903	-0.36;-0.36;0.76	5.65	4.74	0.60224	.	0.096084	0.64402	N	0.000001	T	0.71341	0.3328	M	0.64997	1.995	0.58432	D	0.999993	D;P	0.53312	0.959;0.903	P;P	0.50440	0.641;0.497	T	0.73350	-0.4010	10	0.48119	T	0.1	.	14.4548	0.67409	0.0:0.9294:0.0:0.0706	.	1097;1097	Q99698-3;Q99698	.;LYST_HUMAN	K	1097	ENSP00000374444:E1097K;ENSP00000374443:E1097K;ENSP00000438315:E1097K	ENSP00000374443:E1097K	E	-	1	0	LYST	234035770	0.984000	0.35163	0.141000	0.22245	0.774000	0.43823	3.798000	0.55522	1.377000	0.46286	0.563000	0.77884	GAG	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	25	0.00	0	C			235969147	235969147	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	0.997	T
LYZL1	84569	genome.wustl.edu	37	10	29581479	29581479	+	Nonsense_Mutation	SNP	C	C	A	rs200081100		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:29581479C>A	ENST00000375500.3	+	3	366	c.309C>A	c.(307-309)taC>taA	p.Y103*		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	57					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AGAGCGGCTACAACACCACAG	0.552																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.309C>A	10.37:g.29581479C>A	ENSP00000364650:p.Tyr103*		Q5T921|Q8WW16	Nonsense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.Y103*	ENST00000375500.3	37	c.309	CCDS31174.1	10	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380425	0.61845	.	.	ENSG00000120563	ENST00000375500	.	.	.	4.4	2.51	0.30379	.	0.164448	0.41194	D	0.000932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-16.7616	6.2288	0.20724	0.0:0.7762:0.0:0.2238	.	.	.	.	X	103	.	ENSP00000364650:Y103X	Y	+	3	2	LYZL1	29621485	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	1.206000	0.32321	1.150000	0.42419	0.655000	0.94253	TAC	LYZL1	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys	ENSG00000120563		0.552	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL1	HGNC	protein_coding	OTTHUMT00000047381.1	107	0.00	0	C	NM_032517		29581479	29581479	+1	no_errors	ENST00000375500	ensembl	human	known	69_37n	nonsense	29	27.50	11	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39853963	39853963	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:39853963G>A	ENST00000372915.3	+	57	15551	c.15464G>A	c.(15463-15465)aGa>aAa	p.R5155K	MACF1_ENST00000567887.1_Missense_Mutation_p.R5187K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3088K|MACF1_ENST00000539005.1_Missense_Mutation_p.R3067K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3088K|MACF1_ENST00000564288.1_Missense_Mutation_p.R5150K|MACF1_ENST00000361689.2_Missense_Mutation_p.R3088K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3590K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5155					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTATTGGCAGAGACACTGAT	0.502																																						dbGAP											0													98.0	87.0	91.0					1																	39853963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15464G>A	1.37:g.39853963G>A	ENSP00000362006:p.Arg5155Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R3088K	ENST00000372915.3	37	c.9263		1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972961	0.74246	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.72394	-0.48;-0.65;-0.48;-0.52;-0.47;0.58	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	D	0.83995	0.5375	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77004	0.989;0.968;0.985	T	0.82713	-0.0321	10	0.45353	T	0.12	.	19.9756	0.97304	0.0:0.0:1.0:0.0	.	5155;3088;3032	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	K	3088;5155;3088;3088;3067;3590	ENSP00000439537:R3088K;ENSP00000362006:R5155K;ENSP00000354573:R3088K;ENSP00000313438:R3088K;ENSP00000444364:R3067K;ENSP00000289893:R3590K	ENSP00000289893:R3590K	R	+	2	0	MACF1	39626550	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.477000	0.73591	2.793000	0.96121	0.563000	0.77884	AGA	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	44	0.00	0	G	NM_033044		39853963	39853963	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39950348	39950348	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:39950348G>T	ENST00000372915.3	+	96	21943	c.21856G>T	c.(21856-21858)Gat>Tat	p.D7286Y	MACF1_ENST00000567887.1_Missense_Mutation_p.D7490Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D5328Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D5198Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D5328Y|MACF1_ENST00000564288.1_Missense_Mutation_p.D7453Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D5328Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D5836Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7286	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTTGCTGGTGATACCAGCAA	0.458																																						dbGAP											0													106.0	114.0	111.0					1																	39950348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21856G>T	1.37:g.39950348G>T	ENSP00000362006:p.Asp7286Tyr		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D5328Y	ENST00000372915.3	37	c.15982		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.671856|4.671856	0.88348|0.88348	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218|ENST00000372925;ENST00000446276	T;T;T;T;T;T|.	0.64618|.	-0.08;-0.02;-0.08;-0.11;0.08;1.09|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|.	0.68412|.	0.2998|.	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.995;0.967;0.99;1.0;1.0;0.995|.	D;P;P;D;D;P|.	0.87578|.	0.921;0.689;0.905;0.998;0.994;0.905|.	T|.	0.62253|.	-0.6893|.	9|.	.|.	.|.	.|.	.|.	18.7374|18.7374	0.91761|0.91761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	7286;5328;4331;156;5836;265|.	Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7|.	MACF1_HUMAN;.;.;.;MACF4_HUMAN;.|.	Y|L	5328;7286;5328;5328;5198;5836;242|4331;352	ENSP00000439537:D5328Y;ENSP00000362006:D7286Y;ENSP00000354573:D5328Y;ENSP00000313438:D5328Y;ENSP00000444364:D5198Y;ENSP00000289893:D5836Y|.	.|.	D|X	+|+	1|2	0|2	MACF1|MACF1	39722935|39722935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.824000|6.824000	0.75288|0.75288	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|TGA	MACF1	-	NULL	ENSG00000127603		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	46	0.00	0	G	NM_033044		39950348	39950348	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	36	30.77	16	SNP	1.000	T
MAGEE2	139599	genome.wustl.edu	37	X	75003629	75003629	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:75003629C>G	ENST00000373359.2	-	1	1450	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	420	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACATTGGCCTCTTTGACACGG	0.478																																						dbGAP											0													140.0	121.0	127.0					X																	75003629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1258G>C	X.37:g.75003629C>G	ENSP00000362457:p.Glu420Gln		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E420Q	ENST00000373359.2	37	c.1258	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953138	0.34471	.	.	ENSG00000186675	ENST00000373359	T	0.10288	2.89	2.5	1.62	0.23740	.	.	.	.	.	T	0.27384	0.0672	M	0.87456	2.885	0.32454	N	0.545033	D	0.55605	0.972	P	0.59012	0.85	T	0.33317	-0.9873	9	0.87932	D	0	.	4.583	0.12267	0.0:0.8078:0.0:0.1922	.	420	Q8TD90	MAGE2_HUMAN	Q	420	ENSP00000362457:E420Q	ENSP00000362457:E420Q	E	-	1	0	MAGEE2	74920354	0.997000	0.39634	0.913000	0.36048	0.742000	0.42306	0.910000	0.28571	0.468000	0.27243	0.422000	0.28245	GAG	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.478	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	48	0.00	0	C	NM_138703		75003629	75003629	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	0.905	G
MAGEA12	4111	genome.wustl.edu	37	X	151900474	151900474	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:151900474G>A	ENST00000357916.4	-	2	482	c.327C>T	c.(325-327)ctC>ctT	p.L109L	CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.L109L|MAGEA12_ENST00000393900.3_Silent_p.L109L|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	109	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCCTACTGAGTGCTACTT	0.502																																						dbGAP											0													150.0	126.0	134.0					X																	151900474		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.327C>T	X.37:g.151900474G>A			Q9NSD3	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L109	ENST00000357916.4	37	c.327	CCDS14710.1	X																																																																																			MAGEA12	-	pfscan_MAGE	ENSG00000213401		0.502	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	126	0.00	0	G	NM_005367		151900474	151900474	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	silent	46	36.99	27	SNP	0.000	A
MAN2A2	4122	genome.wustl.edu	37	15	91453858	91453858	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:91453858C>T	ENST00000559717.1	+	11	2164	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y	MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.H569Y|MAN2A2_ENST00000431652.2_Missense_Mutation_p.H77Y			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	569					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTTCCAGCATCACGATGCCAT	0.612																																						dbGAP											0													62.0	58.0	59.0					15																	91453858		2198	4298	6496	-	-	-	SO:0001583	missense	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1705C>T	15.37:g.91453858C>T	ENSP00000452948:p.His569Tyr		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.H569Y	ENST00000559717.1	37	c.1705	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750348	0.89753	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.98762	-5.12;-5.12	5.28	5.28	0.74379	Glycoside hydrolase, family 38, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97772	1.0227	10	0.87932	D	0	-41.001	18.956	0.92658	0.0:1.0:0.0:0.0	.	77;197;569;569	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	Y	569;77	ENSP00000353655:H569Y;ENSP00000388221:H77Y	ENSP00000353655:H569Y	H	+	1	0	MAN2A2	89254862	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.739000	0.84976	2.492000	0.84095	0.306000	0.20318	CAC	MAN2A2	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom	ENSG00000196547		0.612	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	40	0.00	0	C	NM_006122		91453858	91453858	+1	no_errors	ENST00000360468	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	T
MAP4K4	9448	genome.wustl.edu	37	2	102472451	102472451	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:102472451G>C	ENST00000347699.4	+	13	1246	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	MAP4K4_ENST00000350198.4_Missense_Mutation_p.E416Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E269Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E416Q|MAP4K4_ENST00000413150.2_Missense_Mutation_p.E416Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E416Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E396Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E269Q	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	416					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACaaaggagagagcgggaagc	0.468																																						dbGAP											0													114.0	151.0	139.0					2																	102472451		1090	2157	3247	-	-	-	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1246G>C	2.37:g.102472451G>C	ENSP00000314363:p.Glu416Gln		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E416Q	ENST00000347699.4	37	c.1246	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.476799|2.476799	0.44044|0.44044	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878;ENST00000418101|ENST00000421882	T;T;T;T;T;T;T;T;T;T|T	0.73575|0.13901	1.88;1.88;0.91;1.88;0.91;1.88;1.88;1.88;-0.76;1.88|2.55	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.259866|.	0.37577|.	N|.	0.002031|.	T|T	0.29850|0.29850	0.0746|0.0746	M|M	0.71206|0.71206	2.165|2.165	0.45979|0.45979	D|D	0.998792|0.998792	P;P;P;P;P;P;P;P;P;P|.	0.51653|.	0.947;0.659;0.947;0.659;0.769;0.659;0.659;0.769;0.769;0.769|.	D;B;D;B;P;B;P;P;P;P|.	0.65140|.	0.932;0.403;0.932;0.403;0.607;0.403;0.775;0.607;0.607;0.607|.	T|T	0.01884|0.01884	-1.1254|-1.1254	10|7	0.33141|0.72032	T|D	0.24|0.01	.|.	12.4585|12.4585	0.55718|0.55718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	396;416;396;269;416;416;416;416;416;416|.	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	Q|T	416;416;416;269;416;269;416;378;396;5|155	ENSP00000392830:E416Q;ENSP00000313644:E416Q;ENSP00000281111:E416Q;ENSP00000303600:E269Q;ENSP00000389752:E416Q;ENSP00000387370:E269Q;ENSP00000314363:E416Q;ENSP00000409720:E378Q;ENSP00000343658:E396Q;ENSP00000414766:E5Q|ENSP00000396066:R155T	ENSP00000303600:E269Q|ENSP00000396066:R155T	E|R	+|+	1|2	0|0	MAP4K4|MAP4K4	101838883|101838883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	3.959000|3.959000	0.56744|0.56744	2.386000|2.386000	0.81285|0.81285	0.460000|0.460000	0.39030|0.39030	GAG|AGA	MAP4K4	-	NULL	ENSG00000071054		0.468	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	84	0.00	0	G	NM_004834		102472451	102472451	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	missense	70	24.73	23	SNP	1.000	C
MAPKAP1	79109	genome.wustl.edu	37	9	128347943	128347943	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:128347943C>T	ENST00000373498.1	-	4	630	c.562G>A	c.(562-564)Gac>Aac	p.D188N	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.D188N|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.D188N|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D188N|MAPKAP1_ENST00000373497.5_5'UTR|MAPKAP1_ENST00000394063.1_5'UTR|MAPKAP1_ENST00000373503.3_5'UTR|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D188N			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	188	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AGCAGTCTGTCCTGGCTCGAG	0.562																																						dbGAP											0													180.0	118.0	139.0					9																	128347943		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.562G>A	9.37:g.128347943C>T	ENSP00000362597:p.Asp188Asn		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.D188N	ENST00000373498.1	37	c.562	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002068	0.93227	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000468896	.	.	.	5.72	5.72	0.89469	.	0.041876	0.85682	D	0.000000	T	0.74913	0.3779	M	0.73217	2.22	0.80722	D	1	D;P;B;P;P	0.56746	0.977;0.634;0.397;0.688;0.772	P;B;B;B;P	0.55923	0.787;0.3;0.189;0.218;0.511	T	0.74375	-0.3686	9	0.44086	T	0.13	-7.9152	18.8672	0.92298	0.0:1.0:0.0:0.0	.	188;188;188;188;188	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	N	188;188;188;188;190;188;89	.	ENSP00000265960:D188N	D	-	1	0	MAPKAP1	127387764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.695000	0.91970	0.655000	0.94253	GAC	MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.562	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	100	0.00	0	C			128347943	128347943	-1	no_errors	ENST00000265960	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	T
MAPT	4137	genome.wustl.edu	37	17	44051778	44051778	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:44051778G>A	ENST00000571987.1	+	3	248	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000344290.5_Missense_Mutation_p.G83E|MAPT_ENST00000262410.5_Missense_Mutation_p.G83E|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.G83E|MAPT_ENST00000431008.3_Missense_Mutation_p.G83E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83E|MAPT_ENST00000535772.1_Missense_Mutation_p.G83E			P10636	TAU_HUMAN	microtubule-associated protein tau	83					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GTGGATGAGGGAGCTCCCGGC	0.622																																						dbGAP											0													32.0	29.0	30.0					17																	44051778		2202	4300	6502	-	-	-	SO:0001583	missense	0			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.248G>A	17.37:g.44051778G>A	ENSP00000458742:p.Gly83Glu		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.G83E	ENST00000571987.1	37	c.248	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792659	0.31685	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.17054	2.87;2.88;2.3;2.56;2.87	5.94	2.25	0.28309	.	0.492144	0.17250	N	0.181205	T	0.11879	0.0289	L	0.40543	1.245	0.09310	N	0.999999	B;B;B	0.30686	0.043;0.29;0.026	B;B;B	0.32864	0.1;0.154;0.031	T	0.29243	-1.0018	10	0.07482	T	0.82	-0.4136	8.5638	0.33527	0.0895:0.3175:0.593:0.0	.	83;83;83	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	E	83	ENSP00000340820:G83E;ENSP00000262410:G83E;ENSP00000303214:G83E;ENSP00000443028:G83E;ENSP00000410838:G83E	ENSP00000262410:G83E	G	+	2	0	MAPT	41407614	1.000000	0.71417	0.865000	0.33974	0.694000	0.40290	1.667000	0.37471	0.783000	0.33636	0.561000	0.74099	GGA	MAPT	-	NULL	ENSG00000186868		0.622	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	24	0.00	0	G	NM_016835		44051778	44051778	+1	no_errors	ENST00000344290	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.095	A
MAS1	4142	genome.wustl.edu	37	6	160328830	160328830	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:160328830C>G	ENST00000252660.4	+	1	857	c.843C>G	c.(841-843)ttC>ttG	p.F281L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	281					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCATTTACTTCTTTGTGGGAA	0.453																																						dbGAP											0													115.0	117.0	116.0					6																	160328830		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.843C>G	6.37:g.160328830C>G	ENSP00000252660:p.Phe281Leu		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mas_TM,prints_7TM_GPCR_Rhodpsn	p.F281L	ENST00000252660.4	37	c.843	CCDS5272.1	6	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119094	0.37436	.	.	ENSG00000130368	ENST00000252660	T	0.35421	1.31	5.47	3.67	0.42095	.	0.000000	0.56097	D	0.000029	T	0.34308	0.0893	M	0.88906	2.99	0.40498	D	0.980613	P	0.44946	0.846	P	0.45794	0.493	T	0.31558	-0.9939	10	0.56958	D	0.05	.	8.0521	0.30583	0.0:0.7496:0.0:0.2504	.	281	P04201	MAS_HUMAN	L	281	ENSP00000252660:F281L	ENSP00000252660:F281L	F	+	3	2	MAS1	160248820	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	1.221000	0.32503	0.657000	0.30906	-0.136000	0.14681	TTC	MAS1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000130368		0.453	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	39	0.00	0	C	NM_002377		160328830	160328830	+1	no_errors	ENST00000252660	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	G
MBD4	8930	genome.wustl.edu	37	3	129155812	129155812	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:129155812G>A	ENST00000249910.1	-	3	850	c.675C>T	c.(673-675)ttC>ttT	p.F225F	MBD4_ENST00000507208.1_Silent_p.F225F|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000429544.2_Silent_p.F225F|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Silent_p.F225F	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	225					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAACCTTTCTGAAGTTAACAT	0.383								Base excision repair (BER), DNA glycosylases																														dbGAP											0													147.0	156.0	153.0					3																	129155812		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.675C>T	3.37:g.129155812G>A			B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.F225	ENST00000249910.1	37	c.675	CCDS3058.1	3																																																																																			MBD4	-	pirsf_Me_CpG-bd_MBD4	ENSG00000129071		0.383	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1	94	0.00	0	G	NM_003925		129155812	129155812	-1	no_errors	ENST00000249910	ensembl	human	known	69_37n	silent	73	26.47	27	SNP	0.001	A
MBD5	55777	genome.wustl.edu	37	2	149227744	149227744	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:149227744G>T	ENST00000407073.1	+	9	3229	c.2232G>T	c.(2230-2232)atG>atT	p.M744I	MBD5_ENST00000404807.1_Missense_Mutation_p.M744I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	744					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCCCAGTATGAACTCTAGTG	0.473																																						dbGAP											0													93.0	91.0	91.0					2																	149227744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2232G>T	2.37:g.149227744G>T	ENSP00000386049:p.Met744Ile		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.M744I	ENST00000407073.1	37	c.2232	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.025|6.025	0.373007|0.373007	0.11409|0.11409	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.42513|.	0.97;0.97|.	4.96|4.96	3.14|3.14	0.36123|0.36123	.|.	0.238154|.	0.37348|.	N|.	0.002125|.	T|.	0.32164|.	0.0820|.	N|N	0.14661|0.14661	0.345|0.345	0.32743|0.32743	N|N	0.507369|0.507369	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.41070|.	-0.9529|.	10|.	0.45353|.	T|.	0.12|.	0.0207|0.0207	9.6524|9.6524	0.39906|0.39906	0.0783:0.1444:0.7773:0.0|0.0783:0.1444:0.7773:0.0	.|.	744;744|.	Q9P267-2;Q9P267|.	.;MBD5_HUMAN|.	I|L	744|484	ENSP00000386049:M744I;ENSP00000384672:M744I|.	ENSP00000384672:M744I|.	M|X	+|+	3|2	0|2	MBD5|MBD5	148944214|148944214	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.975000|0.975000	0.68041|0.68041	2.427000|2.427000	0.44740|0.44740	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	ATG|TGA	MBD5	-	NULL	ENSG00000204406		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	79	0.00	0	G			149227744	149227744	+1	no_errors	ENST00000407073	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	0.998	T
MBD6	114785	genome.wustl.edu	37	12	57919283	57919283	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:57919283C>G	ENST00000355673.3	+	6	888	c.532C>G	c.(532-534)Cta>Gta	p.L178V	MBD6_ENST00000431731.2_Missense_Mutation_p.L178V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	178	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTTTCCCACTCTAGCAGGCCC	0.642																																						dbGAP											0													50.0	58.0	55.0					12																	57919283		2194	4289	6483	-	-	-	SO:0001583	missense	0			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.532C>G	12.37:g.57919283C>G	ENSP00000347896:p.Leu178Val		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L178V	ENST00000355673.3	37	c.532	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	c	3.759	-0.050032	0.07407	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.56	1.73	0.24493	.	0.605792	0.13351	N	0.394383	T	0.32793	0.0841	N	0.08118	0	0.19300	N	0.999974	P;P	0.51933	0.927;0.949	D;P	0.67725	0.953;0.702	T	0.17319	-1.0373	8	.	.	.	-3.1327	7.5978	0.28058	0.0:0.7863:0.0:0.2137	.	178;178	Q6P0P0;Q96DN6	.;MBD6_HUMAN	V	178	.	.	L	+	1	2	MBD6	56205550	0.571000	0.26659	0.990000	0.47175	0.222000	0.24845	1.161000	0.31773	0.492000	0.27815	-0.494000	0.04653	CTA	MBD6	-	NULL	ENSG00000166987		0.642	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	17	0.00	0	C			57919283	57919283	+1	no_errors	ENST00000355673	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.630	G
MCF2	4168	genome.wustl.edu	37	X	138698560	138698560	+	Missense_Mutation	SNP	C	C	T	rs142028750	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:138698560C>T	ENST00000370576.4	-	9	1281	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	MCF2_ENST00000370573.4_Missense_Mutation_p.D358N|MCF2_ENST00000414978.1_Missense_Mutation_p.D418N|MCF2_ENST00000519895.1_Missense_Mutation_p.D418N|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Missense_Mutation_p.D418N|MCF2_ENST00000370578.4_Missense_Mutation_p.D503N|MCF2_ENST00000536274.1_Missense_Mutation_p.D319N|MCF2_ENST00000338585.6_Missense_Mutation_p.D358N	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	358				D -> Y (in Ref. 5; BAH12371). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCTGAGCATCTTCTTTAGAC	0.343																																						dbGAP											0													56.0	54.0	55.0					X																	138698560		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1072G>A	X.37:g.138698560C>T	ENSP00000359608:p.Asp358Asn		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D503N	ENST00000370576.4	37	c.1507	CCDS14667.1	X	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769515	0.69992	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.38401	1.33;1.23;1.14;1.32;1.33;1.38;1.24;1.28	5.84	5.84	0.93424	.	0.090102	0.85682	D	0.000000	T	0.39489	0.1080	L	0.57536	1.79	0.41863	D	0.990233	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B;B	0.13407	0.002;0.004;0.005;0.002;0.005;0.002;0.009;0.002	T	0.13548	-1.0505	10	0.40728	T	0.16	.	17.9369	0.89015	0.0:1.0:0.0:0.0	.	418;503;319;358;358;503;358;358	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	N	418;358;319;503;418;418;358;358	ENSP00000427745:D418N;ENSP00000359608:D358N;ENSP00000438155:D319N;ENSP00000359610:D503N;ENSP00000397055:D418N;ENSP00000430276:D418N;ENSP00000359605:D358N;ENSP00000342204:D358N	ENSP00000342204:D358N	D	-	1	0	MCF2	138526226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.572000	0.67411	2.457000	0.83068	0.544000	0.68410	GAT	MCF2	-	NULL	ENSG00000101977		0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	32	0.00	0	C	NM_005369		138698560	138698560	-1	no_errors	ENST00000370578	ensembl	human	known	69_37n	missense	16	37.04	10	SNP	1.000	T
MCM4	4173	genome.wustl.edu	37	8	48887472	48887472	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:48887472C>G	ENST00000262105.2	+	14	2524	c.2315C>G	c.(2314-2316)tCt>tGt	p.S772C	MCM4_ENST00000523944.1_Missense_Mutation_p.S772C	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	772					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGAAGCAGTCTGCAACTGAT	0.433																																						dbGAP											0													114.0	124.0	121.0					8																	48887472		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2315C>G	8.37:g.48887472C>G	ENSP00000262105:p.Ser772Cys		Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.S772C	ENST00000262105.2	37	c.2315	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029490	0.75504	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276;ENST00000521261	T;T	0.12147	2.71;2.71	5.91	5.04	0.67666	.	0.101997	0.64402	D	0.000001	T	0.41073	0.1143	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.45454	-0.9260	10	0.72032	D	0.01	-15.1913	15.1954	0.73084	0.0:0.9325:0.0:0.0675	.	772;772	B3KMX0;P33991	.;MCM4_HUMAN	C	772;772;759;732;47;56;56	ENSP00000430194:S772C;ENSP00000262105:S772C	ENSP00000262105:S772C	S	+	2	0	MCM4	49050025	1.000000	0.71417	0.994000	0.49952	0.585000	0.36419	7.436000	0.80404	1.515000	0.48885	0.557000	0.71058	TCT	MCM4	-	prints_MCM_4	ENSG00000104738		0.433	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	64	0.00	0	C	NM_005914		48887472	48887472	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	1.000	G
MCMBP	79892	genome.wustl.edu	37	10	121618682	121618682	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:121618682C>T	ENST00000360003.3	-	3	325	c.156G>A	c.(154-156)ctG>ctA	p.L52L	MCMBP_ENST00000369077.3_Silent_p.L52L|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	52					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GAACTTCGTTCAGTGATGGTA	0.328																																						dbGAP											0													53.0	54.0	54.0					10																	121618682		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.156G>A	10.37:g.121618682C>T			B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	pfam_MCM_complex-bd	p.L52	ENST00000360003.3	37	c.156	CCDS7617.1	10																																																																																			MCMBP	-	NULL	ENSG00000197771		0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	MCMBP	HGNC	protein_coding	OTTHUMT00000050684.1	37	0.00	0	C	NM_024834		121618682	121618682	-1	no_errors	ENST00000360003	ensembl	human	known	69_37n	silent	23	32.35	11	SNP	0.998	T
MCOLN1	57192	genome.wustl.edu	37	19	7589965	7589965	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:7589965G>A	ENST00000264079.6	+	2	275	c.150G>A	c.(148-150)atG>atA	p.M50I		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	50					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTTTTCATGAGTCCCTGCG	0.622																																						dbGAP											0													44.0	43.0	43.0					19																	7589965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.150G>A	19.37:g.7589965G>A	ENSP00000264079:p.Met50Ile		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.M50I	ENST00000264079.6	37	c.150	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.073922	0.94000	.	.	ENSG00000090674	ENST00000264079	T	0.59364	0.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82275	-0.0538	10	0.72032	D	0.01	.	16.6062	0.84830	0.0:0.0:1.0:0.0	.	50;50	Q53HA8;Q9GZU1	.;MCLN1_HUMAN	I	50	ENSP00000264079:M50I	ENSP00000264079:M50I	M	+	3	0	MCOLN1	7495965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.261000	0.95576	2.516000	0.84829	0.655000	0.94253	ATG	MCOLN1	-	NULL	ENSG00000090674		0.622	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	26	0.00	0	G	NM_020533		7589965	7589965	+1	no_errors	ENST00000264079	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	A
MDN1	23195	genome.wustl.edu	37	6	90453333	90453333	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:90453333C>T	ENST00000369393.3	-	30	4394	c.4279G>A	c.(4279-4281)Ggt>Agt	p.G1427S	MDN1_ENST00000428876.1_Missense_Mutation_p.G1427S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1427					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)		CGCAGGCCACCCAGGAAGTCT	0.453																																						dbGAP											0													116.0	113.0	114.0					6																	90453333		2203	4300	6503	-	-	-	SO:0001583	missense	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.4279G>A	6.37:g.90453333C>T	ENSP00000358400:p.Gly1427Ser		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G1427S	ENST00000369393.3	37	c.4279	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120955	0.77436	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.61742	0.08;0.08	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88890	0.3345	10	0.66056	D	0.02	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	1427	Q9NU22	MDN1_HUMAN	S	1427	ENSP00000358400:G1427S;ENSP00000413970:G1427S	ENSP00000358400:G1427S	G	-	1	0	MDN1	90510054	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	7.680000	0.84062	2.683000	0.91414	0.655000	0.94253	GGT	MDN1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	88	0.00	0	C			90453333	90453333	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	48	33.33	24	SNP	1.000	T
MED12	9968	genome.wustl.edu	37	X	70342620	70342620	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:70342620G>A	ENST00000374080.3	+	10	1413	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	MED12_ENST00000333646.6_Missense_Mutation_p.E461K|MED12_ENST00000374102.1_Missense_Mutation_p.E461K			Q93074	MED12_HUMAN	mediator complex subunit 12	461					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCATACTTTGGAAGTGCTGGA	0.488			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													98.0	85.0	89.0					X																	70342620		1948	4142	6090	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1381G>A	X.37:g.70342620G>A	ENSP00000363193:p.Glu461Lys		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.E461K	ENST00000374080.3	37	c.1381	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	23.4	4.413984	0.83449	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.85	4.85	0.62838	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.83012	2.62	0.80722	D	1	B;B;P;P	0.43412	0.265;0.324;0.64;0.806	B;B;B;P	0.50162	0.184;0.224;0.396;0.633	T	0.63528	-0.6617	10	0.62326	D	0.03	-12.9243	17.2392	0.87008	0.0:0.0:1.0:0.0	.	461;308;461;461	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	K	461;461;461;461;429	ENSP00000333125:E461K;ENSP00000363215:E461K;ENSP00000363193:E461K;ENSP00000414203:E429K	ENSP00000333125:E461K	E	+	1	0	MED12	70259345	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.957000	0.70323	2.251000	0.74343	0.502000	0.49764	GAA	MED12	-	pfam_Mediator_Med12_LCEWAV	ENSG00000184634		0.488	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	65	0.00	0	G	NM_005120		70342620	70342620	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	1.000	A
MED12	9968	genome.wustl.edu	37	X	70346870	70346870	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:70346870G>T	ENST00000374080.3	+	20	2769	c.2737G>T	c.(2737-2739)Gat>Tat	p.D913Y	MED12_ENST00000333646.6_Missense_Mutation_p.D913Y|MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.D913Y			Q93074	MED12_HUMAN	mediator complex subunit 12	913					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAAATCCTCGGATCTGGTGGG	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													100.0	91.0	94.0					X																	70346870		2123	4208	6331	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2737G>T	X.37:g.70346870G>T	ENSP00000363193:p.Asp913Tyr		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.D913Y	ENST00000374080.3	37	c.2737	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	20.9	4.064269	0.76187	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.87	4.87	0.63330	.	0.108809	0.64402	D	0.000008	T	0.76004	0.3927	N	0.08118	0	0.45108	D	0.998121	D;D;D;P	0.57571	0.964;0.967;0.98;0.939	P;B;P;P	0.61592	0.891;0.308;0.689;0.781	T	0.79642	-0.1718	10	0.62326	D	0.03	-13.4998	10.8631	0.46837	0.0881:0.0:0.9119:0.0	.	913;760;913;913	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	913;913;913;913;881	ENSP00000333125:D913Y;ENSP00000363215:D913Y;ENSP00000363193:D913Y;ENSP00000414203:D881Y	ENSP00000333125:D913Y	D	+	1	0	MED12	70263595	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.474000	0.66781	2.252000	0.74401	0.436000	0.28706	GAT	MED12	-	NULL	ENSG00000184634		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	125	0.00	0	G	NM_005120		70346870	70346870	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	35	46.27	31	SNP	0.998	T
MED13	9969	genome.wustl.edu	37	17	60062382	60062382	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:60062382G>A	ENST00000397786.2	-	13	2531	c.2455C>T	c.(2455-2457)Ctg>Ttg	p.L819L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	819					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AACGGGTCCAGATTTCCTGTC	0.368																																						dbGAP											0													212.0	198.0	203.0					17																	60062382		1845	4091	5936	-	-	-	SO:0001819	synonymous_variant	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2455C>T	17.37:g.60062382G>A			B2RU05|O60334	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.L819	ENST00000397786.2	37	c.2455	CCDS42366.1	17																																																																																			MED13	-	NULL	ENSG00000108510		0.368	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	154	0.00	0	G	NM_005121		60062382	60062382	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	silent	308	11.21	39	SNP	1.000	A
MED13L	23389	genome.wustl.edu	37	12	116406835	116406835	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:116406835C>T	ENST00000281928.3	-	28	6341	c.6135G>A	c.(6133-6135)ggG>ggA	p.G2045G		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2045						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATGGAGGTTCCCAGTCATTA	0.468																																						dbGAP											0													91.0	97.0	95.0					12																	116406835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6135G>A	12.37:g.116406835C>T			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G2045	ENST00000281928.3	37	c.6135	CCDS9177.1	12																																																																																			MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.468	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	70	0.00	0	C			116406835	116406835	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	silent	50	19.05	12	SNP	1.000	T
MEGF9	1955	genome.wustl.edu	37	9	123374719	123374719	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:123374719G>A	ENST00000373930.3	-	4	1153	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	MEGF9_ENST00000426959.1_Missense_Mutation_p.R385C	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	348	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CAAGGGCAGCGAAGACATTCT	0.383																																						dbGAP											0													126.0	120.0	122.0					9																	123374719		1901	4124	6025	-	-	-	SO:0001583	missense	0			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1042C>T	9.37:g.123374719G>A	ENSP00000363040:p.Arg348Cys		B7Z315|O75098	Missense_Mutation	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	p.R385C	ENST00000373930.3	37	c.1153	CCDS48010.2	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984639	0.74474	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.64438	-0.1;-0.1	5.92	5.92	0.95590	.	0.233287	0.35677	N	0.003050	T	0.72614	0.3482	M	0.65975	2.015	0.47737	D	0.999501	D	0.89917	1.0	P	0.52672	0.706	T	0.74957	-0.3487	10	0.72032	D	0.01	-3.7566	18.5149	0.90933	0.0:0.0:1.0:0.0	.	385	C9J1K8	.	C	348;385	ENSP00000363040:R348C;ENSP00000392666:R385C	ENSP00000363040:R348C	R	-	1	0	MEGF9	122414540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.743000	0.62110	2.822000	0.97130	0.650000	0.86243	CGC	MEGF9	-	smart_EGF-like,pfscan_EGF_laminin	ENSG00000106780		0.383	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	99	0.00	0	G	NM_001080497		123374719	123374719	-1	no_errors	ENST00000426959	ensembl	human	known	69_37n	missense	74	16.85	15	SNP	1.000	A
METTL14	57721	genome.wustl.edu	37	4	119609136	119609136	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:119609136G>A	ENST00000388822.5	+	2	292	c.125G>A	c.(124-126)aGa>aAa	p.R42K	METTL14_ENST00000506780.1_Missense_Mutation_p.E4K			Q9HCE5	MET14_HUMAN	methyltransferase like 14	42					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GATGAGCAGAGAGAAATTGCT	0.398																																						dbGAP											0													100.0	97.0	98.0					4																	119609136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.125G>A	4.37:g.119609136G>A	ENSP00000373474:p.Arg42Lys		A6NIG1|Q969V2	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.R42K	ENST00000388822.5	37	c.125	CCDS34053.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.67|14.67	2.604002|2.604002	0.46423|0.46423	.|.	.|.	ENSG00000145388|ENSG00000145388	ENST00000506780|ENST00000388822;ENST00000508801	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.149257	.|0.64402	.|D	.|0.000019	T|T	0.24236|0.24236	0.0587|0.0587	N|N	0.08118|0.08118	0|0	0.22737|0.22737	N|N	0.998796|0.998796	B|B	0.02656|0.06786	0.0|0.001	B|B	0.04013|0.04013	0.001|0.001	T|T	0.06373|0.06373	-1.0830|-1.0830	7|9	.|0.06099	.|T	.|0.92	-4.3771|-4.3771	19.7782|19.7782	0.96405|0.96405	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4|42	D6RBL4|Q9HCE5	.|MTL14_HUMAN	K|K	4|42;92	.|.	.|ENSP00000373474:R42K	E|R	+|+	1|2	0|0	METTL14|METTL14	119828584|119828584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.812000|5.812000	0.69194|0.69194	2.762000|2.762000	0.94881|0.94881	0.643000|0.643000	0.83706|0.83706	GAG|AGA	METTL14	-	NULL	ENSG00000145388		0.398	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	HGNC	protein_coding	OTTHUMT00000364034.3	55	0.00	0	G	NM_020961		119609136	119609136	+1	no_errors	ENST00000388822	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	A
METTL14	57721	genome.wustl.edu	37	4	119609147	119609147	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:119609147G>A	ENST00000388822.5	+	2	303	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	METTL14_ENST00000506780.1_Silent_p.L7L			Q9HCE5	MET14_HUMAN	methyltransferase like 14	46					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAAATTGCTGAAACAAGAGA	0.398																																						dbGAP											0													92.0	90.0	90.0					4																	119609147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.136G>A	4.37:g.119609147G>A	ENSP00000373474:p.Glu46Lys		A6NIG1|Q969V2	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.E46K	ENST00000388822.5	37	c.136	CCDS34053.1	4	.	.	.	.	.	.	.	.	.	.	g	24.2	4.504198	0.85176	.	.	ENSG00000145388	ENST00000388822;ENST00000508801	.	.	.	5.5	5.5	0.81552	.	0.099808	0.64402	D	0.000002	T	0.65386	0.2686	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.55817	-0.8081	9	0.15952	T	0.53	-3.944	19.7782	0.96405	0.0:0.0:1.0:0.0	.	46	Q9HCE5	MTL14_HUMAN	K	46;96	.	ENSP00000373474:E46K	E	+	1	0	METTL14	119828595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.029000	0.93718	2.762000	0.94881	0.643000	0.83706	GAA	METTL14	-	NULL	ENSG00000145388		0.398	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	HGNC	protein_coding	OTTHUMT00000364034.3	46	0.00	0	G	NM_020961		119609147	119609147	+1	no_errors	ENST00000388822	ensembl	human	known	69_37n	missense	42	19.23	10	SNP	1.000	A
METTL2A	339175	genome.wustl.edu	37	17	60518038	60518038	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:60518038G>C	ENST00000311506.5	+	6	766	c.730G>C	c.(730-732)Gag>Cag	p.E244Q		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	244					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GTGTGATGAAGAGAAGAGTTA	0.408																																						dbGAP											0													226.0	212.0	217.0					17																	60518038		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.730G>C	17.37:g.60518038G>C	ENSP00000309610:p.Glu244Gln		A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.E244Q	ENST00000311506.5	37	c.730	CCDS45752.1	17	.	.	.	.	.	.	.	.	.	.	G	5.596	0.294696	0.10567	.	.	ENSG00000087995	ENST00000311506	T	0.13778	2.56	4.73	2.57	0.30868	Methyltransferase type 12 (1);	0.633137	0.17133	N	0.185756	T	0.05090	0.0136	N	0.03268	-0.37	0.20403	N	0.999908	B	0.06786	0.001	B	0.16722	0.016	T	0.42832	-0.9428	10	0.14656	T	0.56	-1.8906	7.2748	0.26277	0.0992:0.3291:0.5717:0.0	.	244	Q96IZ6	MTL2A_HUMAN	Q	244	ENSP00000309610:E244Q	ENSP00000309610:E244Q	E	+	1	0	METTL2A	57871770	0.685000	0.27652	0.928000	0.36995	0.622000	0.37654	1.350000	0.34010	1.131000	0.42111	0.586000	0.80456	GAG	METTL2A	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	ENSG00000087995		0.408	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	HGNC	protein_coding	OTTHUMT00000445130.1	208	0.00	0	G	NM_181725		60518038	60518038	+1	no_errors	ENST00000311506	ensembl	human	known	69_37n	missense	376	13.36	58	SNP	0.838	C
MGEA5	10724	genome.wustl.edu	37	10	103569984	103569984	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:103569984G>A	ENST00000361464.3	-	4	832	c.437C>T	c.(436-438)tCt>tTt	p.S146F	MGEA5_ENST00000439817.1_Missense_Mutation_p.S146F|MGEA5_ENST00000419011.2_Intron|MGEA5_ENST00000357797.5_Missense_Mutation_p.S146F|MGEA5_ENST00000370094.3_Missense_Mutation_p.S146F	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	146					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGGGGTTAGAAAAAGTGAT	0.373																																						dbGAP											0													149.0	147.0	147.0					10																	103569984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.437C>T	10.37:g.103569984G>A	ENSP00000354850:p.Ser146Phe		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.S146F	ENST00000361464.3	37	c.437	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.271864	0.95429	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.38240	1.23;1.17;1.25;1.15	5.9	5.9	0.94986	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.76391	-0.2976	10	0.87932	D	0	-7.3328	20.282	0.98514	0.0:0.0:1.0:0.0	.	146;146;146;146	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	F	146;146;146;146;94	ENSP00000409973:S146F;ENSP00000354850:S146F;ENSP00000350445:S146F;ENSP00000359112:S146F	ENSP00000350445:S146F	S	-	2	0	MGEA5	103559974	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.793000	0.99091	2.786000	0.95864	0.563000	0.77884	TCT	MGEA5	-	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF	ENSG00000198408		0.373	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	70	0.00	0	G	NM_012215		103569984	103569984	-1	no_errors	ENST00000361464	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	A
MIER1	57708	genome.wustl.edu	37	1	67411967	67411967	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:67411967G>A	ENST00000355356.3	+	3	318	c.169G>A	c.(169-171)Gat>Aat	p.D57N	MIER1_ENST00000401041.1_Missense_Mutation_p.D110N|MIER1_ENST00000371018.3_Missense_Mutation_p.D74N|MIER1_ENST00000371014.1_Missense_Mutation_p.D110N|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371016.1_Missense_Mutation_p.D74N|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401042.3_Missense_Mutation_p.D57N|MIER1_ENST00000371012.2_Missense_Mutation_p.D74N|MIER1_ENST00000357692.2_Missense_Mutation_p.D74N	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	57	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGAAATAGAAGATCTTGCAAG	0.368																																						dbGAP											0													146.0	132.0	136.0					1																	67411967		1834	4090	5924	-	-	-	SO:0001583	missense	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.169G>A	1.37:g.67411967G>A	ENSP00000347514:p.Asp57Asn		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.D110N	ENST00000355356.3	37	c.328	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558480	0.65538	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000371012;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.24	5.24	0.73138	.	0.276251	0.38837	N	0.001541	T	0.16041	0.0386	L	0.39397	1.21	0.80722	D	1	P;P;P;P;P;P;P;P	0.49559	0.506;0.877;0.925;0.827;0.799;0.873;0.85;0.85	B;B;P;B;B;B;B;B	0.47075	0.14;0.335;0.536;0.359;0.194;0.356;0.387;0.308	T	0.01961	-1.1239	10	0.20519	T	0.43	-34.0821	14.7881	0.69819	0.0:0.1439:0.8561:0.0	.	74;74;57;57;81;74;110;110	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;MIER1_HUMAN;.;.;.	N	78;74;74;110;74;110;74;57;57	ENSP00000360057:D74N;ENSP00000350321:D74N;ENSP00000383820:D110N;ENSP00000360055:D74N;ENSP00000360053:D110N;ENSP00000360051:D74N;ENSP00000383821:D57N;ENSP00000347514:D57N	ENSP00000347514:D57N	D	+	1	0	MIER1	67184555	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.486000	0.81215	2.621000	0.88768	0.655000	0.94253	GAT	MIER1	-	NULL	ENSG00000198160		0.368	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	90	0.00	0	G	NM_020948		67411967	67411967	+1	no_errors	ENST00000401041	ensembl	human	known	69_37n	missense	56	36.36	32	SNP	1.000	A
MIPOL1	145282	genome.wustl.edu	37	14	38016173	38016173	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:38016173C>G	ENST00000327441.7	+	14	1792	c.1326C>G	c.(1324-1326)atC>atG	p.I442M	MIPOL1_ENST00000537471.1_Missense_Mutation_p.I442M|MIPOL1_ENST00000539062.2_Missense_Mutation_p.I411M|MIPOL1_ENST00000536774.1_Missense_Mutation_p.I261M|MIPOL1_ENST00000396294.2_Missense_Mutation_p.I442M	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	442						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GGACAGTGATCTGATTGAAAA	0.483																																						dbGAP											0													119.0	106.0	110.0					14																	38016173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.1326C>G	14.37:g.38016173C>G	ENSP00000333539:p.Ile442Met		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	NULL	p.I442M	ENST00000327441.7	37	c.1326	CCDS9664.1	14	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929891	0.52759	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000396294;ENST00000537471	T;T;T;T	0.55760	0.5;0.53;0.5;0.5	5.96	5.96	0.96718	.	0.296218	0.31601	N	0.007371	T	0.56124	0.1964	N	0.14661	0.345	0.30575	N	0.763061	D	0.89917	1.0	D	0.76575	0.988	T	0.60515	-0.7248	10	0.72032	D	0.01	-0.0895	13.5936	0.61975	0.0:0.9295:0.0:0.0705	.	442	Q8TD10	MIPO1_HUMAN	M	442;261;411;442;442	ENSP00000333539:I442M;ENSP00000438319:I411M;ENSP00000379589:I442M;ENSP00000444254:I442M	ENSP00000333539:I442M	I	+	3	3	MIPOL1	37085924	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.577000	0.53885	2.831000	0.97527	0.650000	0.86243	ATC	MIPOL1	-	NULL	ENSG00000151338		0.483	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPOL1	HGNC	protein_coding	OTTHUMT00000276734.1	70	0.00	0	C	NM_138731		38016173	38016173	+1	no_errors	ENST00000327441	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	1.000	G
TPM3	7170	genome.wustl.edu	37	1	154166178	154166178	+	5'Flank	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:154166178C>T	ENST00000368530.2	-	0	0				TPM3_ENST00000271850.7_5'Flank|MIR190B_ENST00000401119.1_RNA	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTAGTTGGTTCCTAATTAAAC	0.433			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													80.0	78.0	79.0					1																	154166178		1568	3582	5150	-	-	-	SO:0001631	upstream_gene_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853		1.37:g.154166178C>T	Exception_encountered		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	SNP	-	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			MIR190B	-	-	ENSG00000215938		0.433	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR190B	HGNC	protein_coding	OTTHUMT00000087271.2	67	0.00	0	C	NM_152263		154166178	154166178	-1	no_errors	ENST00000401119	ensembl	human	known	69_37n	rna	70	23.08	21	SNP	0.997	T
MIR517A	574479	genome.wustl.edu	37	19	54215542	54215542	+	RNA	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:54215542G>C	ENST00000385001.1	+	0	21				MIR524_ENST00000385242.1_RNA|MIR519D_ENST00000385246.1_RNA	NR_030201.1				microRNA 517a																		TGACCCTCTAGATGGAAGCAC	0.478																																						dbGAP											0													127.0	117.0	120.0					19																	54215542		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207734	ENSG00000207734		"""ncRNAs / Micro RNAs"""	32111	non-coding RNA	RNA, micro				MIRN517A			Standard	NR_030201		Approved	hsa-mir-517a	uc021vae.1				19.37:g.54215542G>C				RNA	SNP	-	NULL	ENST00000385001.1	37	NULL		19																																																																																			MIR517A	-	-	ENSG00000207734		0.478	MIR517A-201	KNOWN	basic	miRNA	MIR517A	HGNC	miRNA		117	0.00	0	G	NR_030201		54215542	54215542	+1	no_errors	ENST00000385001	ensembl	human	known	69_37n	rna	95	17.39	20	SNP	0.174	C
KMT2A	4297	genome.wustl.edu	37	11	118376471	118376471	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:118376471C>T	ENST00000389506.5	+	27	9855	c.9855C>T	c.(9853-9855)atC>atT	p.I3285I	KMT2A_ENST00000354520.4_Silent_p.I3247I|KMT2A_ENST00000534358.1_Silent_p.I3288I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3285					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCCCAACATCATAAAAAGAT	0.453																																						dbGAP											0													109.0	107.0	108.0					11																	118376471		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9855C>T	11.37:g.118376471C>T			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.I3285	ENST00000389506.5	37	c.9855	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	79	0.00	0	C	NM_005933		118376471	118376471	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	46	25.81	16	SNP	1.000	T
KMT2E	55904	genome.wustl.edu	37	7	104715186	104715186	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:104715186C>G	ENST00000311117.3	+	8	1198	c.653C>G	c.(652-654)tCa>tGa	p.S218*	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Nonsense_Mutation_p.S218*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S218*|KMT2E_ENST00000476671.1_Nonsense_Mutation_p.S218*	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	218					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTAACTGCTTCAAGAGTTTCC	0.358																																						dbGAP											0													97.0	92.0	94.0					7																	104715186		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.653C>G	7.37:g.104715186C>G	ENSP00000312379:p.Ser218*		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.S218*	ENST00000311117.3	37	c.653	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.152623	0.97329	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000537308	.	.	.	5.25	5.25	0.73442	.	0.552004	0.17209	N	0.182826	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.851	0.92230	0.0:1.0:0.0:0.0	.	.	.	.	X	218;218;218;218;218;76;218;218;152	.	ENSP00000257745:S218X	S	+	2	0	MLL5	104502422	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.881000	0.56152	2.449000	0.82847	0.591000	0.81541	TCA	MLL5	-	NULL	ENSG00000005483		0.358	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	73	0.00	0	C			104715186	104715186	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	nonsense	50	23.08	15	SNP	0.998	G
MNS1	55329	genome.wustl.edu	37	15	56723672	56723672	+	Missense_Mutation	SNP	A	A	C	rs80075836		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:56723672A>C	ENST00000260453.3	-	9	1458	c.1294T>G	c.(1294-1296)Ttg>Gtg	p.L432V	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'UTR|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	432					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTTTGCTGCAACTGCCACTCT	0.348																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1294T>G	15.37:g.56723672A>C	ENSP00000260453:p.Leu432Val		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.L432V	ENST00000260453.3	37	c.1294	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.327426	0.01309	.	.	ENSG00000138587	ENST00000260453	T	0.09723	2.95	6.16	-1.16	0.09678	.	0.794393	0.11547	N	0.553106	T	0.06371	0.0164	L	0.32530	0.975	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.39820	-0.9595	10	0.28530	T	0.3	-0.318	2.0638	0.03598	0.3278:0.235:0.3228:0.1144	.	432	Q8NEH6	MNS1_HUMAN	V	432	ENSP00000260453:L432V	ENSP00000260453:L432V	L	-	1	2	MNS1	54510964	0.000000	0.05858	0.770000	0.31555	0.071000	0.16799	-0.096000	0.11059	-0.114000	0.11936	0.528000	0.53228	TTG	MNS1	-	NULL	ENSG00000138587		0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	101	0.98	1	A	NM_018365		56723672	56723672	-1	no_errors	ENST00000260453	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	0.012	C
MON2	23041	genome.wustl.edu	37	12	62986519	62986519	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:62986519G>C	ENST00000393632.2	+	35	5535	c.5144G>C	c.(5143-5145)gGa>gCa	p.G1715A	MON2_ENST00000551397.1_Missense_Mutation_p.G89A|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393630.3_Missense_Mutation_p.G1716A|MON2_ENST00000552738.1_Missense_Mutation_p.G1686A|MON2_ENST00000393629.2_Missense_Mutation_p.G1709A	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1715					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTTCAAAATGGAGAATCTTGA	0.398																																						dbGAP											0													87.0	85.0	86.0					12																	62986519		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.5144G>C	12.37:g.62986519G>C	ENSP00000377252:p.Gly1715Ala		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.G1716A	ENST00000393632.2	37	c.5147	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681814	0.68042	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000551397	T;T;T;T	0.60797	0.22;0.22;0.16;0.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70176	0.3194	L	0.43152	1.355	0.80722	D	1	D;P;D;D	0.76494	0.999;0.487;0.999;0.999	D;B;D;D	0.80764	0.987;0.203;0.972;0.994	T	0.67488	-0.5658	9	.	.	.	-18.7965	19.0802	0.93178	0.0:0.0:1.0:0.0	.	1709;1686;584;1715	B9EGP5;F8VWA6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.	A	1715;1716;678;1686;1709;89	ENSP00000377252:G1715A;ENSP00000377250:G1716A;ENSP00000449215:G1686A;ENSP00000377249:G1709A	.	G	+	2	0	MON2	61272786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.702000	0.98712	2.494000	0.84150	0.650000	0.86243	GGA	MON2	-	NULL	ENSG00000061987		0.398	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	54	0.00	0	G	NM_015026		62986519	62986519	+1	no_errors	ENST00000393630	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	C
MOV10	4343	genome.wustl.edu	37	1	113242703	113242703	+	Intron	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:113242703C>G	ENST00000413052.2	+	19	3188				MOV10_ENST00000369644.1_Intron|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000357443.2_Intron|MOV10_ENST00000369645.1_Intron|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGTTAATCCTCAGATGTGTCC	0.478																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2798+99C>G	1.37:g.113242703C>G			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	RNA	SNP	-	NULL	ENST00000413052.2	37	NULL	CCDS853.1	1																																																																																			MOV10	-	-	ENSG00000155363		0.478	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	17	0.00	0	C	NM_020963		113242703	113242703	+1	no_errors	ENST00000468624	ensembl	human	known	69_37n	rna	6	45.45	5	SNP	0.013	G
MPRIP	23164	genome.wustl.edu	37	17	17083362	17083362	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:17083362G>C	ENST00000341712.4	+	22	3005	c.3005G>C	c.(3004-3006)aGa>aCa	p.R1002T	MPRIP_ENST00000395811.5_Missense_Mutation_p.R1002T|MPRIP_ENST00000444976.1_Missense_Mutation_p.R964T|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.R1002T|RN7SL775P_ENST00000498361.2_RNA			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	1002						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAGAAAGACAGATCCTGTGTC	0.488																																						dbGAP											0													76.0	77.0	77.0					17																	17083362		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.3005G>C	17.37:g.17083362G>C	ENSP00000342379:p.Arg1002Thr		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1002T	ENST00000341712.4	37	c.3005	CCDS32578.1	17	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.3|28.3|28.3	4.908566|4.908566|4.908566	0.92107|0.92107|0.92107	.|.|.	.|.|.	ENSG00000133030|ENSG00000133030|ENSG00000133030	ENST00000414263|ENST00000313485|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184	.|.|T;T;T;T	.|.|0.24538	.|.|1.85;2.16;2.16;2.16	5.22|5.22|5.22	5.22|5.22|5.22	0.72569|0.72569|0.72569	.|.|.	.|.|0.129243	.|.|0.49305	.|.|D	.|.|0.000141	T|T|T	0.42653|0.42653|0.42653	0.1212|0.1212|0.1212	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.46981|0.46981|0.46981	D|D|D	0.999275|0.999275|0.999275	.|.|B;D;D;D;B	.|.|0.67145	.|.|0.329;0.983;0.996;0.983;0.329	.|.|B;P;D;P;B	.|.|0.64237	.|.|0.095;0.79;0.923;0.79;0.095	T|T|T	0.32587|0.32587|0.32587	-0.9901|-0.9901|-0.9901	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-25.4586|-25.4586|-25.4586	18.7832|18.7832|18.7832	0.91942|0.91942|0.91942	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|1001;964;1366;1002;1002	.|.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.|.|.;.;.;.;MPRIP_HUMAN	H|H|T	1068|1366|964;1002;1002;1002;158	.|.|ENSP00000400189:R964T;ENSP00000379156:R1002T;ENSP00000379149:R1002T;ENSP00000342379:R1002T	.|.|ENSP00000342379:R1002T	D|Q|R	+|+|+	1|3|2	0|2|0	MPRIP|MPRIP|MPRIP	17024087|17024087|17024087	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.983000|0.983000|0.983000	0.72400|0.72400|0.72400	3.371000|3.371000|3.371000	0.52379|0.52379|0.52379	2.436000|2.436000|2.436000	0.82500|0.82500|0.82500	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAT|CAG|AGA	MPRIP	-	NULL	ENSG00000133030		0.488	MPRIP-002	KNOWN	basic|CCDS	protein_coding	MPRIP	HGNC	protein_coding	OTTHUMT00000131587.1	82	0.00	0	G	NM_015134		17083362	17083362	+1	no_errors	ENST00000395811	ensembl	human	known	69_37n	missense	104	11.11	13	SNP	1.000	C
MRPL53	116540	genome.wustl.edu	37	2	74699267	74699267	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:74699267C>T	ENST00000258105.7	-	3	979	c.318G>A	c.(316-318)ccG>ccA	p.P106P	MRPL53_ENST00000409710.1_Missense_Mutation_p.G69R	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	106						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						TATCAGCGCCCGGCTTGTCCC	0.572																																						dbGAP											0													40.0	47.0	44.0					2																	74699267		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.318G>A	2.37:g.74699267C>T				Missense_Mutation	SNP	NULL	p.G69R	ENST00000258105.7	37	c.205	CCDS1944.1	2	.	.	.	.	.	.	.	.	.	.	C	3.800	-0.041965	0.07452	.	.	ENSG00000204822	ENST00000409710	T	0.59224	0.28	3.68	-7.37	0.01412	.	.	.	.	.	T	0.52565	0.1742	.	.	.	0.38031	D	0.935177	.	.	.	.	.	.	T	0.68682	-0.5344	6	0.87932	D	0	-12.9267	4.03	0.09705	0.3916:0.4086:0.0856:0.1142	.	.	.	.	R	69	ENSP00000386920:G69R	ENSP00000386920:G69R	G	-	1	0	MRPL53	74552775	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.352000	0.00129	-5.009000	0.00024	-1.681000	0.00736	GGG	MRPL53	-	NULL	ENSG00000204822		0.572	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL53	HGNC	protein_coding	OTTHUMT00000252225.2	33	0.00	0	C	NM_053050		74699267	74699267	-1	no_errors	ENST00000409710	ensembl	human	novel	69_37n	missense	17	29.17	7	SNP	0.000	T
MS4A8	83661	genome.wustl.edu	37	11	60476149	60476149	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:60476149C>T	ENST00000300226.2	+	5	632	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	143						integral component of membrane (GO:0016021)											GCTTGAACATCGTCAGTGCAA	0.493																																						dbGAP											0													180.0	148.0	159.0					11																	60476149		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.429C>T	11.37:g.60476149C>T			Q8TCA5	Missense_Mutation	SNP	pfam_CD20-like	p.S125L	ENST00000300226.2	37	c.374	CCDS7990.1	11	.	.	.	.	.	.	.	.	.	.	C	1.593	-0.528658	0.04112	.	.	ENSG00000166959	ENST00000525458	.	.	.	3.89	1.81	0.25067	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43426	-0.9392	4	.	.	.	-22.5656	4.8403	0.13487	0.0:0.7032:0.0:0.2968	.	.	.	.	L	125	.	.	S	+	2	0	MS4A8B	60232725	0.592000	0.26832	0.983000	0.44433	0.163000	0.22366	0.152000	0.16302	0.844000	0.35094	0.591000	0.81541	TCG	MS4A8B	-	pfam_CD20-like	ENSG00000166959		0.493	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A8B	HGNC	protein_coding	OTTHUMT00000395605.1	76	0.00	0	C			60476149	60476149	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525458	ensembl	human	putative	69_37n	missense	36	36.84	21	SNP	0.977	T
MSH3	4437	genome.wustl.edu	37	5	80149949	80149949	+	Splice_Site	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:80149949G>T	ENST00000265081.6	+	21	2894	c.2814G>T	c.(2812-2814)agG>agT	p.R938S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	938					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTGCTTGTAGGATGGGTGCTG	0.343								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													68.0	66.0	67.0					5																	80149949		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2814-1G>T	5.37:g.80149949G>T			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R938S	ENST00000265081.6	37	c.2814	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252823	0.59212	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.92858	-3.12	5.25	3.44	0.39384	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96537	0.8870	H	0.96333	3.805	0.47094	D	0.999311	D	0.71674	0.998	D	0.66196	0.942	D	0.95376	0.8469	9	.	.	.	.	8.3169	0.32106	0.3074:0.0:0.6926:0.0	.	938	P20585	MSH3_HUMAN	S	938;929	ENSP00000265081:R938S	.	R	+	3	2	MSH3	80185705	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	3.176000	0.50863	0.586000	0.29626	0.655000	0.94253	AGG	MSH3	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C	ENSG00000113318		0.343	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	66	0.00	0	G	NM_002439	Missense_Mutation	80149949	80149949	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	1.000	T
MST1R	4486	genome.wustl.edu	37	3	49934985	49934985	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:49934985C>T	ENST00000296474.3	-	6	2041	c.2014G>A	c.(2014-2016)Ggc>Agc	p.G672S	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.G672S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	672					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACGGAGGTGCCGTCTACCCGG	0.617																																						dbGAP											0													107.0	85.0	92.0					3																	49934985		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2014G>A	3.37:g.49934985C>T	ENSP00000296474:p.Gly672Ser		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.G672S	ENST00000296474.3	37	c.2014	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968530	0.92855	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.73047	-0.69;-0.71	5.34	5.34	0.76211	Cell surface receptor IPT/TIG (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85734	0.1333	10	0.87932	D	0	-28.8477	17.59	0.87993	0.0:1.0:0.0:0.0	.	672;672	Q04912-5;Q04912	.;RON_HUMAN	S	672	ENSP00000296474:G672S;ENSP00000341325:G672S	ENSP00000296474:G672S	G	-	1	0	MST1R	49909989	0.998000	0.40836	0.875000	0.34327	0.709000	0.40893	5.004000	0.63966	2.662000	0.90505	0.555000	0.69702	GGC	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,smart_IPT_TIG_rcpt	ENSG00000164078		0.617	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	21	0.00	0	C			49934985	49934985	-1	no_errors	ENST00000296474	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.996	T
MST1R	4486	genome.wustl.edu	37	3	49940844	49940844	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:49940844C>T	ENST00000296474.3	-	1	226	c.199G>A	c.(199-201)Gag>Aag	p.E67K	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.E67K	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	67	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACAGCACTCTCATTTCTGTCG	0.617																																						dbGAP											0													130.0	112.0	118.0					3																	49940844		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.199G>A	3.37:g.49940844C>T	ENSP00000296474:p.Glu67Lys		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.E67K	ENST00000296474.3	37	c.199	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	5.280	0.236996	0.10023	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10573	2.86;2.86	4.27	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.718627	0.14406	N	0.321566	T	0.07234	0.0183	L	0.27053	0.805	0.09310	N	1	B;P;B;B;P	0.39717	0.351;0.628;0.351;0.351;0.684	B;B;B;B;B	0.36922	0.108;0.236;0.108;0.076;0.197	T	0.26538	-1.0100	10	0.21014	T	0.42	-2.3166	7.9863	0.30213	0.1658:0.6477:0.1865:0.0	.	67;67;67;67;67	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	K	67	ENSP00000296474:E67K;ENSP00000341325:E67K	ENSP00000296474:E67K	E	-	1	0	MST1R	49915848	0.012000	0.17670	0.037000	0.18230	0.205000	0.24178	2.482000	0.45224	2.069000	0.61940	0.462000	0.41574	GAG	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000164078		0.617	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	44	0.00	0	C			49940844	49940844	-1	no_errors	ENST00000296474	ensembl	human	known	69_37n	missense	27	17.14	6	SNP	0.003	T
MST1R	4486	genome.wustl.edu	37	3	49940880	49940880	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:49940880C>G	ENST00000296474.3	-	1	190	c.163G>C	c.(163-165)Gta>Cta	p.V55L	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.V55L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	55	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATGGCCTGTACCAGGCCTCCG	0.632																																						dbGAP											0													112.0	102.0	105.0					3																	49940880		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.163G>C	3.37:g.49940880C>G	ENSP00000296474:p.Val55Leu		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.V55L	ENST00000296474.3	37	c.163	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765881	0.31228	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.03717	3.83;3.83	4.96	1.67	0.24075	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.173201	0.50627	D	0.000102	T	0.04770	0.0129	L	0.48642	1.525	0.33326	D	0.567908	P;P;P;P;P	0.43024	0.798;0.639;0.798;0.798;0.595	B;B;B;B;B	0.43123	0.409;0.187;0.409;0.319;0.087	T	0.33650	-0.9860	10	0.41790	T	0.15	-10.845	9.033	0.36271	0.0:0.549:0.0:0.451	.	55;55;55;55;55	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	L	55	ENSP00000296474:V55L;ENSP00000341325:V55L	ENSP00000296474:V55L	V	-	1	0	MST1R	49915884	0.907000	0.30839	0.015000	0.15790	0.069000	0.16628	1.252000	0.32874	0.494000	0.27859	0.462000	0.41574	GTA	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000164078		0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	38	0.00	0	C			49940880	49940880	-1	no_errors	ENST00000296474	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.924	G
MST1R	4486	genome.wustl.edu	37	3	49940888	49940888	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:49940888C>T	ENST00000296474.3	-	1	182	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.G52E	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TACCAGGCCTCCGGCGGAGAA	0.647																																						dbGAP											0													106.0	98.0	100.0					3																	49940888		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.155G>A	3.37:g.49940888C>T	ENSP00000296474:p.Gly52Glu		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.G52E	ENST00000296474.3	37	c.155	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555903	0.45487	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04083	3.71;3.71	4.96	2.01	0.26516	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.736082	0.13995	N	0.348553	T	0.03434	0.0099	L	0.31664	0.95	0.09310	N	1	B;P;B;B;P	0.47910	0.313;0.902;0.313;0.313;0.483	B;B;B;B;B	0.44133	0.097;0.442;0.097;0.097;0.122	T	0.09509	-1.0671	10	0.02654	T	1	-11.4373	6.2002	0.20571	0.0:0.5297:0.2534:0.2169	.	52;52;52;52;52	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	E	52	ENSP00000296474:G52E;ENSP00000341325:G52E	ENSP00000296474:G52E	G	-	2	0	MST1R	49915892	0.000000	0.05858	0.083000	0.20561	0.548000	0.35241	0.150000	0.16263	1.076000	0.40961	0.462000	0.41574	GGA	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000164078		0.647	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	38	0.00	0	C			49940888	49940888	-1	no_errors	ENST00000296474	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.001	T
MTG1	92170	genome.wustl.edu	37	10	135215105	135215105	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:135215105C>T	ENST00000317502.6	+	7	623				RP11-108K14.8_ENST00000468317.2_Intron|MTG1_ENST00000477902.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GTGGAGTCCTCAGGGGCCAGG	0.612																																						dbGAP											0													47.0	48.0	48.0					10																	135215105		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.573+11C>T	10.37:g.135215105C>T			Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	RNA	SNP	-	NULL	ENST00000317502.6	37	NULL	CCDS31320.1	10	.	.	.	.	.	.	.	.	.	.	c	8.104	0.777408	0.16120	.	.	ENSG00000148824	ENST00000537620	.	.	.	3.26	-3.12	0.05282	.	.	.	.	.	T	0.20820	0.0501	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28870	-1.0030	4	.	.	.	.	3.9682	0.09441	0.1737:0.1982:0.0:0.6281	.	.	.	.	L	154	.	.	S	+	2	0	AL360181.1	135065095	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-2.053000	0.01400	-0.605000	0.05753	0.289000	0.19496	TCA	MTG1	-	-	ENSG00000148824		0.612	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	Clone_based_vega_gene	protein_coding	OTTHUMT00000051166.1	38	0.00	0	C	NM_138384		135215105	135215105	+1	no_errors	ENST00000460848	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.000	T
MTHFD2	10797	genome.wustl.edu	37	2	74432940	74432940	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:74432940G>C	ENST00000394053.2	+	2	290	c.210G>C	c.(208-210)ctG>ctC	p.L70L	MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Silent_p.L70L|MTHFD2_ENST00000409804.1_Silent_p.L70L|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000264090.4_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	70					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GGCCACACCTGAGTGTGATCC	0.542																																						dbGAP											0													104.0	106.0	105.0					2																	74432940		1993	4160	6153	-	-	-	SO:0001819	synonymous_variant	0			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.210G>C	2.37:g.74432940G>C			Q53G90|Q53GV5|Q53S36|Q7Z650	Silent	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L70	ENST00000394053.2	37	c.210	CCDS1935.2	2																																																																																			MTHFD2	-	pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	ENSG00000065911		0.542	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	55	0.00	0	G			74432940	74432940	+1	no_errors	ENST00000394053	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	1.000	C
MTTP	4547	genome.wustl.edu	37	4	100521726	100521726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:100521726C>T	ENST00000265517.5	+	9	1275	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	MTTP_ENST00000511045.1_Nonsense_Mutation_p.Q385*|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Nonsense_Mutation_p.Q358*			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	358	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTATAGACCTCAGCTGGTGGA	0.393																																						dbGAP											0													131.0	129.0	129.0					4																	100521726		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1072C>T	4.37:g.100521726C>T	ENSP00000265517:p.Gln358*		A8K428|Q08AM4|Q6P5T3	Nonsense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q358*	ENST00000265517.5	37	c.1072	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.422422	0.98275	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-29.3231	18.0118	0.89226	0.0:1.0:0.0:0.0	.	.	.	.	X	385;358;358;358	.	ENSP00000265517:Q358X	Q	+	1	0	MTTP	100740749	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.332000	0.79203	2.217000	0.71921	0.655000	0.94253	CAG	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000138823		0.393	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	66	0.00	0	C			100521726	100521726	+1	no_errors	ENST00000265517	ensembl	human	known	69_37n	nonsense	50	21.21	14	SNP	1.000	T
MTUS2	23281	genome.wustl.edu	37	13	30077140	30077140	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:30077140G>A	ENST00000380808.2	+	9	1060	c.844G>A	c.(844-846)Gag>Aag	p.E282K	MTUS2_ENST00000542829.1_Missense_Mutation_p.E192K|MTUS2_ENST00000431530.3_Missense_Mutation_p.E1313K|MTUS2_ENST00000400542.3_3'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1303						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCTGTCGGAGGAAAATGC	0.493																																						dbGAP											0													63.0	70.0	68.0					13																	30077140		1991	4178	6169	-	-	-	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.844G>A	13.37:g.30077140G>A	ENSP00000370186:p.Glu282Lys		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E1313K	ENST00000380808.2	37	c.3937	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490487	0.64074	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.78126	-1.15;-1.15;-1.15	5.55	5.55	0.83447	.	0.100909	0.64402	D	0.000002	D	0.86209	0.5878	L	0.60845	1.875	0.58432	D	0.999995	D;D	0.76494	0.991;0.999	P;D	0.81914	0.862;0.995	D	0.84982	0.0889	9	.	.	.	.	18.5062	0.90898	0.0:0.0:1.0:0.0	.	282;1303	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	K	1313;282;192;239	ENSP00000392057:E1313K;ENSP00000370186:E282K;ENSP00000445403:E192K	.	E	+	1	0	MTUS2	28975140	1.000000	0.71417	0.992000	0.48379	0.160000	0.22226	3.049000	0.49869	2.615000	0.88500	0.650000	0.86243	GAG	MTUS2	-	NULL	ENSG00000132938		0.493	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	37	0.00	0	G	XM_166270		30077140	30077140	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	0.999	A
MUC16	94025	genome.wustl.edu	37	19	9046789	9046789	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:9046789C>G	ENST00000397910.4	-	5	35045	c.34842G>C	c.(34840-34842)acG>acC	p.T11614T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11616	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCTGACCTCGTGTCTACTC	0.507																																						dbGAP											0													151.0	147.0	148.0					19																	9046789		2008	4177	6185	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34842G>C	19.37:g.9046789C>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T11614	ENST00000397910.4	37	c.34842	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	100	0.00	0	C	NM_024690		9046789	9046789	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	67	27.66	26	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9063096	9063096	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:9063096G>A	ENST00000397910.4	-	3	24553	c.24350C>T	c.(24349-24351)tCc>tTc	p.S8117F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8119	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCAGGGAGGATGTTGGTTC	0.512																																						dbGAP											0													133.0	130.0	131.0					19																	9063096		2017	4187	6204	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24350C>T	19.37:g.9063096G>A	ENSP00000381008:p.Ser8117Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S8117F	ENST00000397910.4	37	c.24350	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	5.069	0.198444	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	3.09	2.01	0.26516	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	.	.	.	P	0.50943	0.94	P	0.53313	0.723	T	0.42599	-0.9442	8	0.87932	D	0	.	6.5592	0.22478	0.1383:0.0:0.8617:0.0	.	8117	B5ME49	.	F	8117	ENSP00000381008:S8117F	ENSP00000381008:S8117F	S	-	2	0	MUC16	8924096	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.843000	0.04350	0.843000	0.35070	0.508000	0.49915	TCC	MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	85	0.00	0	G	NM_024690		9063096	9063096	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	0.003	A
MUC16	94025	genome.wustl.edu	37	19	9068489	9068489	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:9068489G>A	ENST00000397910.4	-	3	19160	c.18957C>T	c.(18955-18957)gtC>gtT	p.V6319V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6321	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGGTGAGACAGTAAAAT	0.468																																						dbGAP											0													175.0	165.0	168.0					19																	9068489		1995	4180	6175	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18957C>T	19.37:g.9068489G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V6319	ENST00000397910.4	37	c.18957	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	122	0.00	0	G	NM_024690		9068489	9068489	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	100	27.54	38	SNP	0.000	A
MUC17	140453	genome.wustl.edu	37	7	100675012	100675012	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:100675012C>T	ENST00000306151.4	+	3	379	c.315C>T	c.(313-315)gtC>gtT	p.V105V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	105	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTGGTGTCTCCAGTACCA	0.473																																						dbGAP											0													128.0	119.0	122.0					7																	100675012		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.315C>T	7.37:g.100675012C>T			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.V105	ENST00000306151.4	37	c.315	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	69	0.00	0	C	NM_001040105		100675012	100675012	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	42	24.56	14	SNP	0.004	T
MYBPC1	4604	genome.wustl.edu	37	12	102056149	102056149	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:102056149G>C	ENST00000550270.1	+	19	1971	c.1971G>C	c.(1969-1971)gaG>gaC	p.E657D	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E638D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E657D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E558D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E643D|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E657D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E682D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E682D|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E670D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E631D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E657D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E644D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E657D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E657D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E645D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	657	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTTTATTGAGAGGAAGAAGA	0.368																																						dbGAP											0													60.0	60.0	60.0					12																	102056149		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1971G>C	12.37:g.102056149G>C	ENSP00000449702:p.Glu657Asp		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E682D	ENST00000550270.1	37	c.2046	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180121	0.57800	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.86	2.46	0.29980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000074	T	0.71660	0.3366	M	0.78801	2.425	0.48135	D	0.999592	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.999;1.0;0.996;0.997;1.0;0.996;0.996;1.0;0.996	D;D;D;D;D;D;D;D;D;D	0.91635	0.983;0.997;0.999;0.996;0.992;0.999;0.994;0.997;0.999;0.995	T	0.72147	-0.4378	10	0.87932	D	0	.	7.772	0.29015	0.4609:0.0:0.5391:0.0	.	638;645;657;657;644;631;657;657;682;682	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	D	631;657;657;657;644;643;682;670;657;682;657;638;645;682;558;657	ENSP00000448175:E631D;ENSP00000400908:E657D;ENSP00000388989:E657D;ENSP00000353822:E657D;ENSP00000376665:E644D;ENSP00000447362:E643D;ENSP00000354845:E682D;ENSP00000447660:E670D;ENSP00000447900:E657D;ENSP00000440034:E657D;ENSP00000446128:E638D;ENSP00000442847:E645D;ENSP00000354849:E682D;ENSP00000447116:E558D;ENSP00000449702:E657D	ENSP00000353822:E657D	E	+	3	2	MYBPC1	100580280	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.084000	0.41625	0.874000	0.35823	-1.131000	0.01979	GAG	MYBPC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196091		0.368	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	29	0.00	0	G			102056149	102056149	+1	no_errors	ENST00000361466	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	C
MYBPC3	4607	genome.wustl.edu	37	11	47374181	47374181	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:47374181C>T	ENST00000545968.1	-	1	72	c.18G>A	c.(16-18)aaG>aaA	p.K6K	MYBPC3_ENST00000399249.2_Silent_p.K6K|MYBPC3_ENST00000256993.4_Silent_p.K6K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	6					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TACCTGGCTTCTTCCCCGGCT	0.587																																						dbGAP											0													109.0	113.0	112.0					11																	47374181		1973	4157	6130	-	-	-	SO:0001819	synonymous_variant	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.18G>A	11.37:g.47374181C>T			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K6	ENST00000545968.1	37	c.18	CCDS53621.1	11																																																																																			MYBPC3	-	NULL	ENSG00000134571		0.587	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	76	0.00	0	C			47374181	47374181	-1	no_errors	ENST00000399249	ensembl	human	known	69_37n	silent	29	32.56	14	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8424485	8424485	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:8424485G>A	ENST00000269243.4	-	16	2121	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	MYH10_ENST00000360416.3_Silent_p.L692L|MYH10_ENST00000379980.4_Silent_p.L677L|MYH10_ENST00000396239.1_Silent_p.L682L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	661	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCAGCTTGGTGAGAGATTCTT	0.453																																						dbGAP											0													234.0	223.0	227.0					17																	8424485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1983C>T	17.37:g.8424485G>A			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L682	ENST00000269243.4	37	c.2046	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133026		0.453	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	155	0.00	0	G			8424485	8424485	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	silent	77	33.90	40	SNP	0.983	A
MYCBPAP	84073	genome.wustl.edu	37	17	48597009	48597009	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:48597009G>A	ENST00000323776.5	+	7	1068	c.906G>A	c.(904-906)gaG>gaA	p.E302E	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Silent_p.E265E	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGAGCTGGGAGAACAGTGGGT	0.532																																						dbGAP											0													83.0	76.0	78.0					17																	48597009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.906G>A	17.37:g.48597009G>A				Missense_Mutation	SNP	NULL	p.R277K	ENST00000323776.5	37	c.830	CCDS32680.2	17																																																																																			MYCBPAP	-	NULL	ENSG00000136449		0.532	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	38	0.00	0	G	NM_032133		48597009	48597009	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000437498	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	0.001	A
MYO16	23026	genome.wustl.edu	37	13	109707850	109707850	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:109707850C>T	ENST00000357550.2	+	26	3217	c.3176C>T	c.(3175-3177)tCt>tTt	p.S1059F	MYO16_ENST00000356711.2_Missense_Mutation_p.S1059F|MYO16_ENST00000457511.2_Missense_Mutation_p.S571F	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTTTACGTGTCTGCTCAGCTA	0.413																																						dbGAP											0													159.0	157.0	158.0					13																	109707850		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3176C>T	13.37:g.109707850C>T	ENSP00000350160:p.Ser1059Phe			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1059F	ENST00000357550.2	37	c.3176	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222758	0.79464	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.95171	-3.63;-3.63;-3.63	5.21	5.21	0.72293	Myosin head, motor domain (2);	0.000000	0.40469	U	0.001086	D	0.96984	0.9015	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.978;0.968;0.998	D	0.96812	0.9597	9	.	.	.	.	17.7758	0.88506	0.0:1.0:0.0:0.0	.	571;1059;1059	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	F	1059;1059;847;571	ENSP00000349145:S1059F;ENSP00000350160:S1059F;ENSP00000401633:S571F	.	S	+	2	0	MYO16	108505851	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.792000	0.75125	2.424000	0.82194	0.561000	0.74099	TCT	MYO16	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000041515		0.413	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	97	0.00	0	C	NM_015011		109707850	109707850	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	82	15.46	15	SNP	1.000	T
MYO18A	399687	genome.wustl.edu	37	17	27425981	27425981	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:27425981C>G	ENST00000527372.1	-	23	3823	c.3643G>C	c.(3643-3645)Gac>Cac	p.D1215H	MYO18A_ENST00000533112.1_Missense_Mutation_p.D1215H|MYO18A_ENST00000354329.4_Missense_Mutation_p.D1215H|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1215H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1215	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGGCCAGGTCCTGGATCTGC	0.612																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													134.0	137.0	136.0					17																	27425981		1986	4157	6143	-	-	-	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3643G>C	17.37:g.27425981C>G	ENSP00000437073:p.Asp1215His		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.D1215H	ENST00000527372.1	37	c.3643	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.171098	0.94807	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.67	5.67	0.87782	.	0.083707	0.85682	D	0.000000	T	0.82116	0.4967	M	0.61703	1.905	0.54753	D	0.999989	B;D;D;D;D	0.69078	0.321;0.995;0.997;0.997;0.993	B;P;D;P;P	0.63192	0.135;0.874;0.912;0.875;0.786	T	0.81810	-0.0762	10	0.56958	D	0.05	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	884;827;1215;1215;1215	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	H	1215;1215;1215;1215;1215;111;111;827	ENSP00000346291:D1215H;ENSP00000435932:D1215H;ENSP00000434228:D1215H;ENSP00000437073:D1215H	ENSP00000346291:D1215H	D	-	1	0	MYO18A	24450107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.593000	0.61034	2.837000	0.97791	0.655000	0.94253	GAC	MYO18A	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000196535		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	118	0.00	0	C	NM_078471		27425981	27425981	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	missense	56	28.21	22	SNP	1.000	G
MYO3A	53904	genome.wustl.edu	37	10	26465629	26465629	+	Splice_Site	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:26465629G>A	ENST00000265944.5	+	31	4459		c.e31-1		MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTCTTTTTAGATATCAAAGT	0.418																																						dbGAP											0													40.0	39.0	39.0					10																	26465629		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4294-1G>A	10.37:g.26465629G>A			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Splice_Site	SNP	-	e29-1	ENST00000265944.5	37	c.4294-1	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530733	0.85706	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4823	0.90817	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3A	26505635	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.857000	0.86963	2.799000	0.96334	0.650000	0.86243	.	MYO3A	-	-	ENSG00000095777		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	46	0.00	0	G	NM_017433	Intron	26465629	26465629	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	splice_site	34	15.00	6	SNP	1.000	A
MYO9B	4650	genome.wustl.edu	37	19	17313011	17313011	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:17313011G>A	ENST00000594824.1	+	28	4882	c.4735G>A	c.(4735-4737)Gag>Aag	p.E1579K	MYO9B_ENST00000595618.1_Missense_Mutation_p.E1579K|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1579K			Q13459	MYO9B_HUMAN	myosin IXB	1579	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTGGCCACTGAGCGTGGCCA	0.552																																						dbGAP											0													44.0	47.0	46.0					19																	17313011		2007	4177	6184	-	-	-	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4735G>A	19.37:g.17313011G>A	ENSP00000471367:p.Glu1579Lys		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1579K	ENST00000594824.1	37	c.4735		19	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686537	0.29962	.	.	ENSG00000099331	ENST00000397274	D	0.85556	-2.0	4.51	4.51	0.55191	.	0.122891	0.35805	N	0.002968	T	0.79311	0.4424	L	0.55213	1.73	0.34678	D	0.724458	B;B;B;B	0.24651	0.108;0.056;0.108;0.034	B;B;B;B	0.23419	0.027;0.046;0.027;0.021	T	0.77422	-0.2594	10	0.17369	T	0.5	.	9.9413	0.41583	0.1074:0.0:0.8926:0.0	.	1579;1579;1579;1585	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	K	1579	ENSP00000380444:E1579K	ENSP00000380444:E1579K	E	+	1	0	MYO9B	17174011	1.000000	0.71417	0.816000	0.32577	0.563000	0.35712	3.581000	0.53914	2.049000	0.60858	0.313000	0.20887	GAG	MYO9B	-	NULL	ENSG00000099331		0.552	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	23	0.00	0	G			17313011	17313011	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.874	A
MYOM1	8736	genome.wustl.edu	37	18	3094176	3094176	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:3094176C>T	ENST00000356443.4	-	26	4189	c.3856G>A	c.(3856-3858)Gaa>Aaa	p.E1286K	RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.E1286K|MYOM1_ENST00000261606.7_Missense_Mutation_p.E1190K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1286					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCGGGCCTTCAAAAATTTCC	0.388																																						dbGAP											0													74.0	71.0	72.0					18																	3094176		1808	4082	5890	-	-	-	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3856G>A	18.37:g.3094176C>T	ENSP00000348821:p.Glu1286Lys		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1286K	ENST00000356443.4	37	c.3856	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731454	0.48939	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04917	3.53;3.53;3.53	5.55	5.55	0.83447	Immunoglobulin-like fold (1);	0.257282	0.44902	D	0.000409	T	0.05823	0.0152	L	0.36672	1.1	0.40840	D	0.983664	B;B	0.34181	0.44;0.313	B;B	0.37047	0.24;0.095	T	0.38672	-0.9650	10	0.10111	T	0.7	.	9.2229	0.37388	0.0:0.7682:0.1502:0.0817	.	1190;1286	P52179-2;P52179	.;MYOM1_HUMAN	K	1286;1286;1190	ENSP00000348821:E1286K;ENSP00000383413:E1286K;ENSP00000261606:E1190K	ENSP00000261606:E1190K	E	-	1	0	MYOM1	3084176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.138000	0.42140	2.894000	0.99253	0.655000	0.94253	GAA	MYOM1	-	smart_Ig_sub	ENSG00000101605		0.388	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	96	0.00	0	C	NM_003803		3094176	3094176	-1	no_errors	ENST00000356443	ensembl	human	known	69_37n	missense	59	29.76	25	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2054142	2054142	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:2054142G>C	ENST00000262113.4	+	22	2986	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	MYOM2_ENST00000523438.1_Missense_Mutation_p.E374Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	949	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCCTACGAGGAGATTTCAGA	0.463																																						dbGAP											0													115.0	113.0	114.0					8																	2054142		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2845G>C	8.37:g.2054142G>C	ENSP00000262113:p.Glu949Gln		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E949Q	ENST00000262113.4	37	c.2845	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990742	0.35131	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.46063	0.88;0.88	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.213391	0.46442	D	0.000294	T	0.53883	0.1824	M	0.71581	2.175	0.43919	D	0.996565	P	0.47253	0.892	P	0.48738	0.588	T	0.52079	-0.8623	10	0.32370	T	0.25	.	18.9981	0.92821	0.0:0.0:1.0:0.0	.	949	P54296	MYOM2_HUMAN	Q	949;374	ENSP00000262113:E949Q;ENSP00000428396:E374Q	ENSP00000262113:E949Q	E	+	1	0	MYOM2	2041549	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	7.521000	0.81832	2.476000	0.83614	0.563000	0.77884	GAG	MYOM2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000036448		0.463	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	77	0.00	0	G	NM_003970		2054142	2054142	+1	no_errors	ENST00000262113	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	1.000	C
MYT1L	23040	genome.wustl.edu	37	2	1926145	1926145	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:1926145C>G	ENST00000399161.2	-	10	2143	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.E466Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	466					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACTGGTCCTCATATGACCTC	0.493																																						dbGAP											0													173.0	166.0	168.0					2																	1926145		1971	4155	6126	-	-	-	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1396G>C	2.37:g.1926145C>G	ENSP00000382114:p.Glu466Gln		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E466Q	ENST00000399161.2	37	c.1396		2	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051732	0.36181	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47177	0.89;0.85	5.91	5.91	0.95273	.	0.147758	0.64402	D	0.000011	T	0.37073	0.0990	N	0.19112	0.55	0.52099	D	0.999945	P;P	0.41265	0.627;0.744	B;B	0.35813	0.105;0.211	T	0.34675	-0.9819	10	0.66056	D	0.02	-44.2662	20.2936	0.98544	0.0:1.0:0.0:0.0	.	466;466	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	466;414;466	ENSP00000382114:E466Q;ENSP00000396103:E466Q	ENSP00000295067:E414Q	E	-	1	0	MYT1L	1905152	1.000000	0.71417	0.967000	0.41034	0.011000	0.07611	7.420000	0.80191	2.801000	0.96364	0.655000	0.94253	GAG	MYT1L	-	NULL	ENSG00000186487		0.493	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	124	0.00	0	C	NM_015025		1926145	1926145	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	missense	77	13.48	12	SNP	1.000	G
NACAD	23148	genome.wustl.edu	37	7	45122984	45122984	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:45122984C>T	ENST00000490531.2	-	2	2814	c.2795G>A	c.(2794-2796)gGc>gAc	p.G932D		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	932					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGAGGTGGGGCCTGTGTCTTG	0.647																																						dbGAP											0													26.0	26.0	26.0					7																	45122984		692	1591	2283	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2795G>A	7.37:g.45122984C>T	ENSP00000420477:p.Gly932Asp			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.G932D	ENST00000490531.2	37	c.2795	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	C	2.957	-0.215501	0.06101	.	.	ENSG00000136274	ENST00000490531	T	0.10960	2.82	3.15	-1.02	0.10135	.	.	.	.	.	T	0.04543	0.0124	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46275	-0.9203	9	0.14252	T	0.57	-1.9534	4.6258	0.12477	0.0:0.2369:0.2082:0.5549	.	932	O15069	NACAD_HUMAN	D	932	ENSP00000420477:G932D	ENSP00000420477:G932D	G	-	2	0	NACAD	45089509	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-1.021000	0.03615	-0.186000	0.10533	0.448000	0.29417	GGC	NACAD	-	NULL	ENSG00000136274		0.647	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	62	0.00	0	C	NM_001146334		45122984	45122984	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	0.008	T
NADSYN1	55191	genome.wustl.edu	37	11	71208553	71208553	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:71208553G>A	ENST00000319023.2	+	19	1977	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	NADSYN1_ENST00000530055.1_Missense_Mutation_p.E226K|NADSYN1_ENST00000539574.1_Missense_Mutation_p.E337K	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	597	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GACATATGCGGAGCTCTCGGT	0.522																																					Ovarian(79;763 1781 6490 50276)	dbGAP											0													121.0	118.0	119.0					11																	71208553		2200	4294	6494	-	-	-	SO:0001583	missense	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1789G>A	11.37:g.71208553G>A	ENSP00000326424:p.Glu597Lys		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.E597K	ENST00000319023.2	37	c.1789	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	.	20.9	4.061657	0.76187	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.44083	0.93;0.93;0.93	4.81	4.81	0.61882	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.066213	0.64402	D	0.000014	T	0.70894	0.3276	M	0.90977	3.165	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.79107	-0.1939	10	0.87932	D	0	-23.0507	15.3854	0.74695	0.0:0.0:1.0:0.0	.	337;597	B3KUU4;Q6IA69	.;NADE_HUMAN	K	597;337;226	ENSP00000326424:E597K;ENSP00000443718:E337K;ENSP00000431820:E226K	ENSP00000326424:E597K	E	+	1	0	NADSYN1	70886201	1.000000	0.71417	0.598000	0.28837	0.193000	0.23685	8.204000	0.89741	2.234000	0.73211	0.591000	0.81541	GAG	NADSYN1	-	pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase	ENSG00000172890		0.522	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	103	0.00	0	G	NM_018161		71208553	71208553	+1	no_errors	ENST00000319023	ensembl	human	known	69_37n	missense	36	40.00	24	SNP	0.997	A
TRIM14	9830	genome.wustl.edu	37	9	100840472	100840472	+	Intron	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:100840472C>G	ENST00000375098.3	-	7	1379				TRIM14_ENST00000478530.1_5'Flank|NANS_ENST00000210444.5_Intron|NANS_ENST00000461452.1_Intron			Q14142	TRI14_HUMAN	tripartite motif containing 14						innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CTGGATTACTCAGGTCGCCCA	0.493																																					Colon(14;460 597 13826 51781)	dbGAP											0													182.0	152.0	162.0					9																	100840472		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000375098.3:c.1327-8503G>C	9.37:g.100840472C>G			A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Nonsense_Mutation	SNP	pfam_Neu5Ac_N	p.S8*	ENST00000375098.3	37	c.23	CCDS6734.1	9	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925197	0.92319	.	.	ENSG00000095380	ENST00000415280	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	16.5136	0.84293	0.0:1.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000404107:S8X	S	+	2	0	NANS	99880293	0.989000	0.36119	0.807000	0.32361	0.272000	0.26649	2.854000	0.48325	2.674000	0.91012	0.644000	0.83932	TCA	NANS	-	pfam_Neu5Ac_N	ENSG00000095380		0.493	TRIM14-004	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053353.1	82	0.00	0	C	NM_014788		100840472	100840472	+1	no_stop_codon	ENST00000415280	ensembl	human	known	69_37n	nonsense	51	30.67	23	SNP	0.969	G
NAV2	89797	genome.wustl.edu	37	11	20104613	20104613	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:20104613C>T	ENST00000396087.3	+	29	5662	c.5563C>T	c.(5563-5565)Cat>Tat	p.H1855Y	NAV2_ENST00000349880.4_Missense_Mutation_p.H1796Y|NAV2_ENST00000360655.4_Missense_Mutation_p.H1732Y|NAV2_ENST00000527559.2_Missense_Mutation_p.H1784Y|NAV2_ENST00000311043.8_Missense_Mutation_p.H860Y|NAV2_ENST00000533917.1_Missense_Mutation_p.H860Y|NAV2_ENST00000540292.1_Missense_Mutation_p.H1786Y|NAV2_ENST00000396085.1_Missense_Mutation_p.H1799Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1855					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCGTCCTCTCATTCAGATAT	0.498																																						dbGAP											0													120.0	107.0	112.0					11																	20104613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5563C>T	11.37:g.20104613C>T	ENSP00000379396:p.His1855Tyr		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.H1855Y	ENST00000396087.3	37	c.5563	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677145	0.68042	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	D	0.94804	0.8322	L	0.31845	0.965	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;1.0;0.997	D;P;D;D	0.91635	0.998;0.851;0.999;0.99	D	0.93511	0.6853	9	.	.	.	.	20.0381	0.97570	0.0:1.0:0.0:0.0	.	1799;860;1796;1732	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	Y	1732;1799;1796;1855;1784;1786;860;860	ENSP00000353871:H1732Y;ENSP00000379394:H1799Y;ENSP00000309577:H1796Y;ENSP00000379396:H1855Y;ENSP00000435395:H1784Y;ENSP00000443489:H1786Y;ENSP00000437316:H860Y;ENSP00000312169:H860Y	.	H	+	1	0	NAV2	20061189	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.763000	0.85283	2.740000	0.93945	0.609000	0.83330	CAT	NAV2	-	NULL	ENSG00000166833		0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	74	0.00	0	C	NM_145117		20104613	20104613	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	missense	61	30.34	27	SNP	1.000	T
NBAS	51594	genome.wustl.edu	37	2	15534412	15534412	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:15534412G>C	ENST00000281513.5	-	28	3221	c.3196C>G	c.(3196-3198)Caa>Gaa	p.Q1066E	NBAS_ENST00000441750.1_Missense_Mutation_p.Q946E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1066					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTAGATTGAGTGTTTTTA	0.363																																						dbGAP											0													61.0	59.0	59.0					2																	15534412		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3196C>G	2.37:g.15534412G>C	ENSP00000281513:p.Gln1066Glu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	pfam_Sec39	p.S163*	ENST00000281513.5	37	c.488	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.236311|4.236311	0.79800|0.79800	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842	T;T;T|.	0.17691|.	2.26;2.26;2.26|.	5.48|5.48	4.55|4.55	0.56014|0.56014	Secretory pathway Sec39 (1);|.	0.103411|.	0.64402|.	D|.	0.000002|.	T|.	0.65015|.	0.2651|.	L|L	0.56769|0.56769	1.78|1.78	0.50632|0.50632	D|D	0.99988|0.99988	P;P|.	0.48998|.	0.918;0.898|.	P;P|.	0.51415|.	0.542;0.669|.	T|.	0.62987|.	-0.6737|.	10|.	0.87932|.	D|.	0|.	.|.	14.0142|14.0142	0.64515|0.64515	0.0:0.0:0.8481:0.1518|0.0:0.0:0.8481:0.1518	.|.	946;1066|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	E|X	946;1066;113|163	ENSP00000413201:Q946E;ENSP00000281513:Q1066E;ENSP00000396501:Q113E|.	ENSP00000281513:Q1066E|.	Q|S	-|-	1|2	0|0	NBAS|NBAS	15451863|15451863	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.887000|0.887000	0.51463|0.51463	5.361000|5.361000	0.66092|0.66092	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	CAA|TCA	NBAS	-	pfam_Sec39	ENSG00000151779		0.363	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	103	0.00	0	G	NM_015909		15534412	15534412	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429842	ensembl	human	novel	69_37n	nonsense	58	24.68	19	SNP	1.000	C
NBN	4683	genome.wustl.edu	37	8	90965699	90965699	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:90965699G>T	ENST00000265433.3	-	11	1772	c.1618C>A	c.(1618-1620)Cat>Aat	p.H540N	NBN_ENST00000409330.1_Missense_Mutation_p.H458N	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	540					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGCAGCATGAGATTTACTG	0.348								Homologous recombination																														dbGAP											0													166.0	161.0	163.0					8																	90965699		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1618C>A	8.37:g.90965699G>T	ENSP00000265433:p.His540Asn		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.H540N	ENST00000265433.3	37	c.1618	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	0.458	-0.890343	0.02491	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.57907	2.05;0.37	5.29	0.188	0.15114	.	1.138830	0.06199	N	0.682997	T	0.28400	0.0702	N	0.08118	0	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.09377	0.004;0.004	T	0.14868	-1.0457	10	0.27082	T	0.32	-1.1103	4.5189	0.11949	0.3572:0.1557:0.4871:0.0	.	540;540	A6H8Y5;O60934	.;NBN_HUMAN	N	540;458	ENSP00000265433:H540N;ENSP00000386924:H458N	ENSP00000265433:H540N	H	-	1	0	NBN	91034875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.041000	0.13558	-0.157000	0.13467	CAT	NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	161	0.00	0	G	NM_001024688		90965699	90965699	-1	no_errors	ENST00000265433	ensembl	human	known	69_37n	missense	130	25.29	44	SNP	0.000	T
NCAPH	23397	genome.wustl.edu	37	2	97025883	97025883	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:97025883G>T	ENST00000240423.4	+	11	1403	c.1360G>T	c.(1360-1362)Gat>Tat	p.D454Y	NCAPH_ENST00000427946.1_Missense_Mutation_p.D318Y|NCAPH_ENST00000455200.1_Missense_Mutation_p.D443Y	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	454					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTCTGCAGAAGATGCTCCTTC	0.348																																						dbGAP											0													57.0	61.0	59.0					2																	97025883		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1360G>T	2.37:g.97025883G>T	ENSP00000240423:p.Asp454Tyr		B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.D454Y	ENST00000240423.4	37	c.1360	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060699	0.76074	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.73	1.5	0.22942	.	0.424117	0.28742	N	0.014284	T	0.57740	0.2074	M	0.70275	2.135	0.23563	N	0.997402	D;D;D	0.67145	0.992;0.992;0.996	D;D;D	0.65573	0.917;0.936;0.936	T	0.47129	-0.9141	10	0.62326	D	0.03	-0.1485	4.1759	0.10351	0.0828:0.2935:0.4725:0.1511	.	430;443;454	B4DRG7;E9PHA2;Q15003	.;.;CND2_HUMAN	Y	454;318;443;443	ENSP00000240423:D454Y;ENSP00000400774:D318Y;ENSP00000405237:D443Y;ENSP00000407308:D443Y	ENSP00000240423:D454Y	D	+	1	0	NCAPH	96389610	0.997000	0.39634	0.010000	0.14722	0.907000	0.53573	2.467000	0.45093	0.296000	0.22592	0.563000	0.77884	GAT	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.348	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	40	0.00	0	G	NM_015341		97025883	97025883	+1	no_errors	ENST00000240423	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	0.191	T
NCOA6	23054	genome.wustl.edu	37	20	33329000	33329000	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:33329000G>C	ENST00000374796.2	-	12	7630	c.5060C>G	c.(5059-5061)tCt>tGt	p.S1687C	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1687C			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1687	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCAGGCCAGAGTTGGTTGT	0.458																																						dbGAP											0													111.0	113.0	112.0					20																	33329000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5060C>G	20.37:g.33329000G>C	ENSP00000363929:p.Ser1687Cys		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.S1687C	ENST00000374796.2	37	c.5060	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414377	0.62511	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.28069	1.63;1.63	5.44	2.32	0.28847	.	0.415394	0.25386	N	0.031045	T	0.21921	0.0528	L	0.27053	0.805	0.35231	D	0.776957	B	0.02656	0.0	B	0.08055	0.003	T	0.15694	-1.0428	10	0.87932	D	0	-0.2788	11.8374	0.52333	0.0:0.2572:0.6162:0.1265	.	1687	Q14686	NCOA6_HUMAN	C	1687	ENSP00000363929:S1687C;ENSP00000351894:S1687C	ENSP00000351894:S1687C	S	-	2	0	NCOA6	32792661	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.660000	0.54496	0.366000	0.24427	0.655000	0.94253	TCT	NCOA6	-	NULL	ENSG00000198646		0.458	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	91	0.00	0	G	NM_014071		33329000	33329000	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	missense	81	31.36	37	SNP	1.000	C
NCOA3	8202	genome.wustl.edu	37	20	46281227	46281227	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:46281227C>T	ENST00000371998.3	+	21	4215	c.4024C>T	c.(4024-4026)Ccc>Tcc	p.P1342S	NCOA3_ENST00000341724.6_Missense_Mutation_p.P1268S|NCOA3_ENST00000372004.3_Missense_Mutation_p.P1338S|NCOA3_ENST00000371997.3_Missense_Mutation_p.P1333S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1342					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						AAGAATGGGTCCCTCCCAGAA	0.483																																						dbGAP											0													133.0	111.0	118.0					20																	46281227		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.4024C>T	20.37:g.46281227C>T	ENSP00000361066:p.Pro1342Ser		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.P1342S	ENST00000371998.3	37	c.4024	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753078	0.31046	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.26373	1.74;4.58;4.59;1.74	5.23	3.16	0.36331	Domain of unknown function DUF1518 (1);	0.152796	0.46145	D	0.000304	T	0.31389	0.0795	M	0.61703	1.905	0.43734	D	0.996223	B;B;B;P;B	0.36010	0.277;0.277;0.277;0.532;0.277	B;B;B;B;B	0.42593	0.392;0.392;0.392;0.329;0.392	T	0.09443	-1.0674	10	0.12766	T	0.61	-9.9016	16.0704	0.80922	0.0:0.7484:0.2516:0.0	.	1342;1345;1337;1338;1342	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	S	1338;1268;1338;1342;1333	ENSP00000342123:P1268S;ENSP00000361073:P1338S;ENSP00000361066:P1342S;ENSP00000361065:P1333S	ENSP00000345671:P1338S	P	+	1	0	NCOA3	45714634	0.943000	0.32029	0.971000	0.41717	0.966000	0.64601	1.121000	0.31283	1.321000	0.45227	0.655000	0.94253	CCC	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.483	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	74	0.00	0	C	NM_006534		46281227	46281227	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	0.959	T
NCOA7	135112	genome.wustl.edu	37	6	126203578	126203578	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:126203578G>A	ENST00000368357.3	+	8	932	c.580G>A	c.(580-582)Gac>Aac	p.D194N	NCOA7_ENST00000229634.9_Missense_Mutation_p.D90N|NCOA7_ENST00000392477.2_Missense_Mutation_p.D194N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	194					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAAGGATGCTGACTTAGCACG	0.348																																						dbGAP											0													60.0	57.0	58.0					6																	126203578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.580G>A	6.37:g.126203578G>A	ENSP00000357341:p.Asp194Asn		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.D194N	ENST00000368357.3	37	c.580	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.243888	0.95272	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.55760	2.55;2.55;2.53;0.5	5.63	5.63	0.86233	.	0.382752	0.29529	N	0.011900	T	0.57651	0.2068	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;0.988	D;D;D;P	0.87578	0.96;0.998;0.998;0.788	T	0.57969	-0.7719	10	0.51188	T	0.08	-1.2566	20.0344	0.97551	0.0:0.0:1.0:0.0	.	194;194;194;194	B3KXK4;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	N	194;194;90;3	ENSP00000357341:D194N;ENSP00000376269:D194N;ENSP00000229634:D90N;ENSP00000389186:D3N	ENSP00000229634:D90N	D	+	1	0	NCOA7	126245271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.596000	0.90844	2.803000	0.96430	0.650000	0.86243	GAC	NCOA7	-	NULL	ENSG00000111912		0.348	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	63	0.00	0	G	XM_059748		126203578	126203578	+1	no_errors	ENST00000368357	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	1.000	A
NCOR1	9611	genome.wustl.edu	37	17	16075194	16075194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:16075194G>A	ENST00000268712.3	-	4	615	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q120*|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	120	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGACACGCTGAAAATGAGAA	0.488																																						dbGAP											0													75.0	63.0	67.0					17																	16075194		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.358C>T	17.37:g.16075194G>A	ENSP00000268712:p.Gln120*		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q120*	ENST00000268712.3	37	c.358	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.355033	0.95854	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	.	.	.	5.81	5.81	0.92471	.	0.387618	0.29822	N	0.011114	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.6277	17.2344	0.86994	0.0:0.0:1.0:0.0	.	.	.	.	X	120	.	ENSP00000268712:Q120X	Q	-	1	0	NCOR1	16015919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.013000	0.70776	2.736000	0.93811	0.655000	0.94253	CAG	NCOR1	-	NULL	ENSG00000141027		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	31	0.00	0	G	NM_006311		16075194	16075194	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	nonsense	25	21.88	7	SNP	1.000	A
NCR2	9436	genome.wustl.edu	37	6	41318535	41318535	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:41318535G>A	ENST00000373089.5	+	5	852	c.764G>A	c.(763-765)aGa>aAa	p.R255K	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	255					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.R255K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					cctgtagagagagaaatatta	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	77.0	80.0					6																	41318535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.764G>A	6.37:g.41318535G>A	ENSP00000362181:p.Arg255Lys		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R255K	ENST00000373089.5	37	c.764	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	G	9.215	1.031830	0.19590	.	.	ENSG00000096264	ENST00000373089	T	0.15487	2.42	2.22	-2.09	0.07232	.	.	.	.	.	T	0.02267	0.0070	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44128	-0.9348	9	0.87932	D	0	.	1.8225	0.03113	0.1324:0.3802:0.2942:0.1932	.	255	O95944	NCTR2_HUMAN	K	255	ENSP00000362181:R255K	ENSP00000362181:R255K	R	+	2	0	NCR2	41426513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.086000	0.11233	-0.626000	0.05596	-1.071000	0.02255	AGA	NCR2	-	NULL	ENSG00000096264		0.423	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	51	0.00	0	G			41318535	41318535	+1	no_errors	ENST00000373089	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.000	A
NDUFA4L2	56901	genome.wustl.edu	37	12	57629349	57629349	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:57629349G>C	ENST00000554503.1	-	4	513	c.261C>G	c.(259-261)ttC>ttG	p.F87L	NDUFA4L2_ENST00000556732.1_3'UTR|NDUFA4L2_ENST00000393825.1_Missense_Mutation_p.F87L			Q9NRX3	NUA4L_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2	87										lung(1)|prostate(1)	2						GCCTGGCTTAGAAGTCTGGCC	0.602																																						dbGAP											0													64.0	75.0	71.0					12																	57629349		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011910	CCDS8935.1	12q13.3	2014-05-29			ENSG00000185633	ENSG00000185633			29836	protein-coding gene	gene with protein product							Standard	NM_020142		Approved	NUOMS, FLJ26118	uc001sno.3	Q9NRX3	OTTHUMG00000171275	ENST00000554503.1:c.261C>G	12.37:g.57629349G>C	ENSP00000450664:p.Phe87Leu		Q6IAH9	Missense_Mutation	SNP	NULL	p.F87L	ENST00000554503.1	37	c.261	CCDS8935.1	12	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604193	0.66445	.	.	ENSG00000185633	ENST00000554503;ENST00000393825	T;T	0.76186	-1.0;-1.0	4.53	3.63	0.41609	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	.	.	.	0.48040	D	0.999573	D	0.57257	0.979	D	0.71414	0.973	D	0.84029	0.0358	9	0.72032	D	0.01	.	8.7955	0.34876	0.1036:0.0:0.8964:0.0	.	87	Q9NRX3	NUA4L_HUMAN	L	87	ENSP00000450664:F87L;ENSP00000377411:F87L	ENSP00000377411:F87L	F	-	3	2	NDUFA4L2	55915616	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	2.917000	0.48821	1.268000	0.44264	0.650000	0.86243	TTC	NDUFA4L2	-	NULL	ENSG00000185633		0.602	NDUFA4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA4L2	HGNC	protein_coding	OTTHUMT00000412744.1	44	0.00	0	G	NM_020142		57629349	57629349	-1	no_errors	ENST00000393825	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	1.000	C
NDUFB1	4707	genome.wustl.edu	37	14	92583859	92583859	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:92583859C>G	ENST00000555441.1	-	2	336	c.123G>C	c.(121-123)aaG>aaC	p.K41N	NDUFB1_ENST00000329559.3_Missense_Mutation_p.K88N|NDUFB1_ENST00000605997.1_Missense_Mutation_p.K41N|NDUFB1_ENST00000553514.1_Missense_Mutation_p.K41N|NDUFB1_ENST00000556555.1_5'Flank			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	41					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		ATAACATACTCTTGTTCCGGA	0.388																																						dbGAP											0													94.0	94.0	94.0					14																	92583859		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000555441.1:c.123G>C	14.37:g.92583859C>G	ENSP00000450776:p.Lys41Asn		A0AV68	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_MNLL_su	p.K88N	ENST00000555441.1	37	c.264		14	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668834	0.29604	.	.	ENSG00000183648	ENST00000553377;ENST00000329559;ENST00000555441	D;D	0.86366	-2.11;-2.11	5.06	3.23	0.37069	.	0.000000	0.64402	D	0.000001	D	0.90752	0.7097	.	.	.	0.35011	D	0.75693	D	0.69078	0.997	D	0.64410	0.925	D	0.92373	0.5907	9	0.87932	D	0	-6.4435	7.3978	0.26946	0.0:0.6755:0.0:0.3245	.	88	O75438-2	.	N	41;88;41	ENSP00000330787:K88N;ENSP00000450776:K41N	ENSP00000330787:K88N	K	-	3	2	NDUFB1	91653612	1.000000	0.71417	0.993000	0.49108	0.106000	0.19336	2.158000	0.42329	1.143000	0.42306	-0.150000	0.13652	AAG	NDUFB1	-	pfam_NADH_UbQ_OxRdtase_MNLL_su	ENSG00000183648		0.388	NDUFB1-006	KNOWN	basic|appris_principal	protein_coding	NDUFB1	HGNC	protein_coding	OTTHUMT00000412121.1	75	0.00	0	C	NM_004545		92583859	92583859	-1	no_errors	ENST00000329559	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	1.000	G
NDUFB1	4707	genome.wustl.edu	37	14	92583888	92583888	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:92583888C>A	ENST00000555441.1	-	2	307	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	NDUFB1_ENST00000329559.3_Missense_Mutation_p.D79Y|NDUFB1_ENST00000605997.1_Missense_Mutation_p.D32Y|NDUFB1_ENST00000553514.1_Missense_Mutation_p.D32Y|NDUFB1_ENST00000556555.1_5'Flank			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	32					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		AGCCGTTCATCACTCTTTCTG	0.393																																						dbGAP											0													93.0	92.0	92.0					14																	92583888		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000555441.1:c.94G>T	14.37:g.92583888C>A	ENSP00000450776:p.Asp32Tyr		A0AV68	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_MNLL_su	p.D79Y	ENST00000555441.1	37	c.235		14	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972925	0.53614	.	.	ENSG00000183648	ENST00000553377;ENST00000329559;ENST00000555441	T;T	0.80480	-1.38;-1.38	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	D	0.90314	0.6970	.	.	.	0.51482	D	0.999922	D	0.89917	1.0	D	0.97110	1.0	D	0.91597	0.5292	9	0.87932	D	0	-14.7222	18.3217	0.90241	0.0:1.0:0.0:0.0	.	79	O75438-2	.	Y	32;79;32	ENSP00000330787:D79Y;ENSP00000450776:D32Y	ENSP00000330787:D79Y	D	-	1	0	NDUFB1	91653641	1.000000	0.71417	0.998000	0.56505	0.107000	0.19398	6.236000	0.72339	2.426000	0.82243	0.655000	0.94253	GAT	NDUFB1	-	pfam_NADH_UbQ_OxRdtase_MNLL_su	ENSG00000183648		0.393	NDUFB1-006	KNOWN	basic|appris_principal	protein_coding	NDUFB1	HGNC	protein_coding	OTTHUMT00000412121.1	66	0.00	0	C	NM_004545		92583888	92583888	-1	no_errors	ENST00000329559	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152409956	152409956	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:152409956G>C	ENST00000172853.10	-	99	14731	c.14584C>G	c.(14584-14586)Cct>Gct	p.P4862A	NEB_ENST00000427231.2_Missense_Mutation_p.P6563A|NEB_ENST00000604864.1_Missense_Mutation_p.P6563A|NEB_ENST00000603639.1_Missense_Mutation_p.P6563A|NEB_ENST00000397345.3_Missense_Mutation_p.P6563A|NEB_ENST00000409198.1_Missense_Mutation_p.P4862A			P20929	NEBU_HUMAN	nebulin	4862					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGATTTCAGGAGTGTCCCAG	0.393																																						dbGAP											0													156.0	152.0	153.0					2																	152409956		1969	4150	6119	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14584C>G	2.37:g.152409956G>C	ENSP00000172853:p.Pro4862Ala		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.P6563A	ENST00000172853.10	37	c.19687		2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632133	0.87660	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.85918	0.1444	10	0.38643	T	0.18	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	4862;1293	P20929;Q14215	NEBU_HUMAN;.	A	4862;6563;6563;911;1293;4862	ENSP00000386259:P4862A;ENSP00000380505:P6563A;ENSP00000416578:P6563A;ENSP00000410961:P1293A;ENSP00000172853:P4862A	ENSP00000172853:P4862A	P	-	1	0	NEB	152118202	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.869000	0.99810	2.732000	0.93576	0.650000	0.86243	CCT	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.393	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		88	0.00	0	G	NM_004543		152409956	152409956	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	69	23.33	21	SNP	1.000	C
NECAP2	55707	genome.wustl.edu	37	1	16778398	16778398	+	Silent	SNP	G	G	A	rs149073589	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:16778398G>A	ENST00000337132.5	+	6	645	c.555G>A	c.(553-555)ctG>ctA	p.L185L	NECAP2_ENST00000443980.2_Silent_p.L185L|NECAP2_ENST00000406746.1_Silent_p.L185L|NECAP2_ENST00000457722.2_Silent_p.L159L|NECAP2_ENST00000504551.2_Silent_p.L124L	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	185					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGGGCTGAGCCTGCTTC	0.622																																						dbGAP											0													58.0	66.0	64.0					1																	16778398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.555G>A	1.37:g.16778398G>A			B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	pfam_NECAP-1	p.L185	ENST00000337132.5	37	c.555	CCDS173.1	1																																																																																			NECAP2	-	NULL	ENSG00000157191		0.622	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAP2	HGNC	protein_coding	OTTHUMT00000006680.2	39	0.00	0	G	NM_018090		16778398	16778398	+1	no_errors	ENST00000443980	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	1.000	A
NEDD9	4739	genome.wustl.edu	37	6	11190945	11190945	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:11190945G>A	ENST00000379446.5	-	5	1323	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	NEDD9_ENST00000504387.1_Missense_Mutation_p.S386F|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	386					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTCCTTGGAGGAGGTGGAAGA	0.562																																						dbGAP											0													92.0	71.0	78.0					6																	11190945		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1157C>T	6.37:g.11190945G>A	ENSP00000368759:p.Ser386Phe		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S386F	ENST00000379446.5	37	c.1157	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201769	0.79015	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.46819	0.86;0.99	5.92	5.92	0.95590	.	0.090469	0.85682	D	0.000000	T	0.45597	0.1350	L	0.34521	1.04	0.80722	D	1	P;B;P	0.43662	0.813;0.396;0.814	P;B;B	0.51582	0.674;0.212;0.406	T	0.44221	-0.9342	10	0.72032	D	0.01	-24.4244	20.3248	0.98698	0.0:0.0:1.0:0.0	.	386;386;386	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	F	386	ENSP00000368759:S386F;ENSP00000422871:S386F	ENSP00000368759:S386F	S	-	2	0	NEDD9	11298931	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.453000	0.66645	2.818000	0.97014	0.655000	0.94253	TCC	NEDD9	-	NULL	ENSG00000111859		0.562	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	48	0.00	0	G	NM_006403		11190945	11190945	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	missense	23	25.00	8	SNP	1.000	A
NEK10	152110	genome.wustl.edu	37	3	27204223	27204223	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:27204223G>A	ENST00000429845.2	-	31	3200	c.2838C>T	c.(2836-2838)ttC>ttT	p.F946F	NEK10_ENST00000295720.6_Silent_p.F258F|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Silent_p.F343F|NEK10_ENST00000383770.3_Silent_p.F258F|NEK10_ENST00000383771.4_Silent_p.F258F			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	946					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCCTCCAGTGAAGTCCCTGA	0.358																																						dbGAP											0													90.0	90.0	90.0					3																	27204223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2838C>T	3.37:g.27204223G>A			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.F258	ENST00000429845.2	37	c.774		3																																																																																			NEK10	-	NULL	ENSG00000163491		0.358	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	76	0.00	0	G	NM_152534		27204223	27204223	-1	no_errors	ENST00000383771	ensembl	human	known	69_37n	silent	70	22.58	21	SNP	0.934	A
NEK4	6787	genome.wustl.edu	37	3	52745823	52745823	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:52745823C>G	ENST00000233027.5	-	16	2698	c.2496G>C	c.(2494-2496)ttG>ttC	p.L832F	NEK4_ENST00000535191.1_Missense_Mutation_p.L743F	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	832					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CAAAAAATTTCAACTGGCGAG	0.358																																						dbGAP											0													141.0	163.0	156.0					3																	52745823		2202	4300	6502	-	-	-	SO:0001583	missense	0			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2496G>C	3.37:g.52745823C>G	ENSP00000233027:p.Leu832Phe		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L832F	ENST00000233027.5	37	c.2496	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784819	0.70222	.	.	ENSG00000114904	ENST00000233027;ENST00000535191	D;D	0.87571	-2.11;-2.27	5.58	2.58	0.30949	.	0.000000	0.44688	D	0.000438	D	0.89945	0.6862	M	0.61703	1.905	0.49798	D	0.999828	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87069	0.2158	10	0.87932	D	0	.	4.8092	0.13335	0.0:0.5645:0.1553:0.2803	.	743;832	B7Z200;P51957	.;NEK4_HUMAN	F	832;743	ENSP00000233027:L832F;ENSP00000437703:L743F	ENSP00000233027:L832F	L	-	3	2	NEK4	52720863	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.867000	0.27968	0.295000	0.22570	0.650000	0.86243	TTG	NEK4	-	NULL	ENSG00000114904		0.358	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	88	0.00	0	C	NM_003157		52745823	52745823	-1	no_errors	ENST00000233027	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	1.000	G
NEK6	10783	genome.wustl.edu	37	9	127101933	127101933	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:127101933C>G	ENST00000320246.5	+	8	851	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	NEK6_ENST00000545174.1_Missense_Mutation_p.L236V|NEK6_ENST00000394199.2_Missense_Mutation_p.L270V|NEK6_ENST00000546191.1_Missense_Mutation_p.L236V|NEK6_ENST00000539416.1_Missense_Mutation_p.L261V|NEK6_ENST00000373600.3_Missense_Mutation_p.L270V|NEK6_ENST00000540326.1_Missense_Mutation_p.L254V|NEK6_ENST00000373603.1_Missense_Mutation_p.L236V	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCTGGGCTGTCTGCTGTACGA	0.592																																					NSCLC(122;934 1785 18647 44295 45571)	dbGAP											0													261.0	192.0	215.0					9																	127101933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.706C>G	9.37:g.127101933C>G	ENSP00000319734:p.Leu236Val		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L270V	ENST00000320246.5	37	c.808	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375068	0.42105	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000454453;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.41	-0.934	0.10428	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.43545	0.1252	N	0.00966	-1.09	0.80722	D	1	D;P;P;P	0.89917	1.0;0.924;0.938;0.924	D;P;P;P	0.91635	0.999;0.664;0.773;0.664	T	0.40327	-0.9569	10	0.10111	T	0.7	.	10.7475	0.46189	0.0:0.5536:0.0:0.4464	.	261;270;236;254	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	V	236;254;270;236;168;236;168;270;236;261	ENSP00000362705:L236V;ENSP00000441469:L254V;ENSP00000362702:L270V;ENSP00000319734:L236V;ENSP00000442636:L236V;ENSP00000405215:L168V;ENSP00000377749:L270V;ENSP00000441426:L236V;ENSP00000439651:L261V	ENSP00000319734:L236V	L	+	1	2	NEK6	126141754	0.097000	0.21791	0.684000	0.30055	0.813000	0.45954	0.459000	0.21908	-0.422000	0.07405	-0.302000	0.09304	CTG	NEK6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000119408		0.592	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	89	0.00	0	C	NM_014397		127101933	127101933	+1	no_errors	ENST00000373600	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.906	G
NETO2	81831	genome.wustl.edu	37	16	47162345	47162345	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:47162345C>G	ENST00000562435.1	-	4	756	c.372G>C	c.(370-372)gtG>gtC	p.V124V	NETO2_ENST00000303155.5_Silent_p.V124V	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	124	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAGGGCTTTTCACGCCACAGT	0.388										HNSCC(25;0.065)																												dbGAP											0													123.0	123.0	123.0					16																	47162345		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.372G>C	16.37:g.47162345C>G			J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	p.E9Q	ENST00000562435.1	37	c.25	CCDS10727.1	16																																																																																			NETO2	-	pfam_CUB,superfamily_CUB,pfscan_CUB	ENSG00000171208		0.388	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NETO2	HGNC	protein_coding	OTTHUMT00000256766.2	72	0.00	0	C	NM_018092		47162345	47162345	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562559	ensembl	human	putative	69_37n	missense	47	20.00	12	SNP	0.970	G
NEURL1	9148	genome.wustl.edu	37	10	105331386	105331386	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:105331386C>T	ENST00000369780.4	+	3	865	c.456C>T	c.(454-456)ttC>ttT	p.F152F	NEURL_ENST00000369777.2_Silent_p.F135F	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		152	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AGAGTGGCTTCTGGGCCAAGG	0.642																																						dbGAP											0													75.0	56.0	62.0					10																	105331386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000369780.4:c.456C>T	10.37:g.105331386C>T			Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.F152	ENST00000369780.4	37	c.456	CCDS7551.1	10																																																																																			NEURL	-	smart_Neu_Z,pfscan_Neu_Z	ENSG00000107954		0.642	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1	54	0.00	0	C			105331386	105331386	+1	no_errors	ENST00000369780	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	1.000	T
NEUROD1	4760	genome.wustl.edu	37	2	182543321	182543321	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:182543321C>T	ENST00000295108.3	-	2	724	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	89	Poly-Lys.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TAGTCATCTTCTTCTTTTTGG	0.562																																						dbGAP											0													137.0	116.0	123.0					2																	182543321		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.267G>A	2.37:g.182543321C>T			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.K89	ENST00000295108.3	37	c.267	CCDS2283.1	2																																																																																			NEUROD1	-	pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.562	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	159	0.00	0	C	NM_002500		182543321	182543321	-1	no_errors	ENST00000295108	ensembl	human	known	69_37n	silent	98	11.61	13	SNP	1.000	T
NINL	22981	genome.wustl.edu	37	20	25448048	25448048	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:25448048C>T	ENST00000278886.6	-	19	3473	c.3400G>A	c.(3400-3402)Gag>Aag	p.E1134K	NINL_ENST00000422516.1_Missense_Mutation_p.E785K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1134					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCTCCATCTCAGAGCAGGCC	0.423																																						dbGAP											0													212.0	175.0	188.0					20																	25448048		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3400G>A	20.37:g.25448048C>T	ENSP00000278886:p.Glu1134Lys		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E1134K	ENST00000278886.6	37	c.3400	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602063	0.87055	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35048	3.44;1.33	4.94	4.94	0.65067	.	0.380726	0.25250	N	0.032024	T	0.39489	0.1080	L	0.53249	1.67	0.09310	N	1	P;B	0.44139	0.827;0.009	P;B	0.46758	0.526;0.006	T	0.24476	-1.0159	10	0.18276	T	0.48	-9.079	13.8504	0.63492	0.0:1.0:0.0:0.0	.	785;1134	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	1134;785	ENSP00000278886:E1134K;ENSP00000410431:E785K	ENSP00000278886:E1134K	E	-	1	0	NINL	25396048	0.018000	0.18449	0.020000	0.16555	0.710000	0.40934	0.999000	0.29757	2.727000	0.93392	0.591000	0.81541	GAG	NINL	-	NULL	ENSG00000101004		0.423	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	101	0.00	0	C	NM_025176		25448048	25448048	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	67	22.09	19	SNP	0.032	T
NKAPL	222698	genome.wustl.edu	37	6	28228226	28228226	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:28228226G>A	ENST00000343684.3	+	1	1129	c.1077G>A	c.(1075-1077)caG>caA	p.Q359Q	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	359										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAACCAGATCTACAGTG	0.458																																						dbGAP											0													170.0	157.0	161.0					6																	28228226		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1077G>A	6.37:g.28228226G>A			Q3MIV1|Q9H4Q7	Silent	SNP	pfam_DUF926	p.Q359	ENST00000343684.3	37	c.1077	CCDS34353.1	6																																																																																			NKAPL	-	pfam_DUF926	ENSG00000189134		0.458	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	126	0.00	0	G			28228226	28228226	+1	no_errors	ENST00000343684	ensembl	human	known	69_37n	silent	65	18.52	15	SNP	1.000	A
NLRC4	58484	genome.wustl.edu	37	2	32461373	32461373	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:32461373G>C	ENST00000404025.2	-	8	3045	c.2557C>G	c.(2557-2559)Ctt>Gtt	p.L853V	NLRC4_ENST00000342905.6_Missense_Mutation_p.L188V|NLRC4_ENST00000360906.5_Missense_Mutation_p.L853V|NLRC4_ENST00000402280.1_Missense_Mutation_p.L853V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	853					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GATAAATCAAGAATGCTCAGT	0.294																																						dbGAP											0													106.0	101.0	103.0					2																	32461373		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2557C>G	2.37:g.32461373G>C	ENSP00000385090:p.Leu853Val		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.L853V	ENST00000404025.2	37	c.2557	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115759	0.56505	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	4.69	2.84	0.33178	.	0.000000	0.33457	N	0.004889	D	0.84206	0.5421	M	0.63843	1.955	0.30987	N	0.721808	D;D	0.64830	0.994;0.989	D;P	0.63488	0.915;0.696	D	0.86704	0.1931	9	0.56958	D	0.05	.	7.4462	0.27213	0.1969:0.0:0.8031:0.0	.	188;853	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	V	853;853;188;853	ENSP00000354159:L853V;ENSP00000385428:L853V;ENSP00000339666:L188V;ENSP00000385090:L853V	ENSP00000339666:L188V	L	-	1	0	NLRC4	32314877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.934000	0.40163	1.224000	0.43551	0.591000	0.81541	CTT	NLRC4	-	NULL	ENSG00000091106		0.294	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	156	0.00	0	G	NM_021209		32461373	32461373	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	108	26.53	39	SNP	0.998	C
NLRC4	58484	genome.wustl.edu	37	2	32475918	32475918	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:32475918G>C	ENST00000404025.2	-	5	1503	c.1015C>G	c.(1015-1017)Ctc>Gtc	p.L339V	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.L339V|NLRC4_ENST00000402280.1_Missense_Mutation_p.L339V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	339	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACCACAAAGAGAGGGGTCTTC	0.468																																						dbGAP											0													79.0	73.0	75.0					2																	32475918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1015C>G	2.37:g.32475918G>C	ENSP00000385090:p.Leu339Val		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.L339V	ENST00000404025.2	37	c.1015	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504352	0.44558	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.11063	2.81;2.81;2.81	3.26	2.36	0.29203	.	0.000000	0.38720	N	0.001586	T	0.23054	0.0557	M	0.66939	2.045	0.30987	N	0.721808	D	0.63880	0.993	D	0.73708	0.981	T	0.15954	-1.0419	9	0.72032	D	0.01	-11.2093	3.9762	0.09475	0.3608:0.0:0.6392:0.0	.	339	Q9NPP4	NLRC4_HUMAN	V	339	ENSP00000354159:L339V;ENSP00000385428:L339V;ENSP00000385090:L339V	ENSP00000354159:L339V	L	-	1	0	NLRC4	32329422	0.999000	0.42202	1.000000	0.80357	0.831000	0.47069	1.357000	0.34090	1.831000	0.53308	0.536000	0.68110	CTC	NLRC4	-	NULL	ENSG00000091106		0.468	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	52	0.00	0	G	NM_021209		32475918	32475918	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	40	22.22	12	SNP	1.000	C
NLRP3	114548	genome.wustl.edu	37	1	247597529	247597529	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:247597529C>T	ENST00000336119.3	+	5	3198	c.2452C>T	c.(2452-2454)Ctg>Ttg	p.L818L	NLRP3_ENST00000366496.2_Silent_p.L818L|NLRP3_ENST00000391827.2_Silent_p.L761L|NLRP3_ENST00000391828.3_Silent_p.L818L|NLRP3_ENST00000366497.2_Silent_p.L818L|NLRP3_ENST00000348069.2_Silent_p.L761L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	818					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AATCAGACTTCTGTGTGTGGG	0.572																																						dbGAP											0													147.0	130.0	136.0					1																	247597529		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2452C>T	1.37:g.247597529C>T			B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L818	ENST00000336119.3	37	c.2452	CCDS1632.1	1																																																																																			NLRP3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000162711		0.572	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	71	0.00	0	C	NM_004895		247597529	247597529	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	silent	40	27.27	15	SNP	0.088	T
NMD3	51068	genome.wustl.edu	37	3	160942832	160942832	+	Silent	SNP	G	G	C	rs151239262	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:160942832G>C	ENST00000460469.1	+	2	614	c.159G>C	c.(157-159)tcG>tcC	p.S53S	NMD3_ENST00000472947.1_Silent_p.S53S|NMD3_ENST00000351193.2_Silent_p.S53S|NMD3_ENST00000478160.1_Intron			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	53					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCTCGATTTCGTTCTGCAAAC	0.413																																						dbGAP											0													188.0	180.0	183.0					3																	160942832		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.159G>C	3.37:g.160942832G>C			D3DNM7|Q9Y2Z6	Silent	SNP	pfam_NMD3	p.S53	ENST00000460469.1	37	c.159	CCDS3194.1	3																																																																																			NMD3	-	pfam_NMD3	ENSG00000169251		0.413	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	95	0.00	0	G	NM_015938		160942832	160942832	+1	no_errors	ENST00000351193	ensembl	human	known	69_37n	silent	80	10.00	9	SNP	0.977	C
NMNAT1	64802	genome.wustl.edu	37	1	10041198	10041198	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:10041198C>G	ENST00000377205.1	+	4	553	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	RP11-807G9.2_ENST00000413148.1_RNA|NMNAT1_ENST00000403197.1_Missense_Mutation_p.Q137E	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	137					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGATTCTAGTCAAAAGAAATC	0.438																																						dbGAP											0													69.0	66.0	67.0					1																	10041198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.409C>G	1.37:g.10041198C>G	ENSP00000366410:p.Gln137Glu		B1AN63|Q8TAE9|Q9H247|Q9H6B6	Nonsense_Mutation	SNP	NULL	p.S30*	ENST00000377205.1	37	c.89	CCDS108.1	1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513296	0.00975	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97620	-4.46;-4.46	5.04	1.91	0.25777	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	1.755150	0.02775	N	0.120181	D	0.92153	0.7512	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84188	0.0443	10	0.02654	T	1	-0.0579	7.1564	0.25639	0.2479:0.4523:0.2998:0.0	.	137	Q9HAN9	NMNA1_HUMAN	E	137	ENSP00000385131:Q137E;ENSP00000366410:Q137E	ENSP00000366410:Q137E	Q	+	1	0	NMNAT1	9963785	0.032000	0.19561	0.072000	0.20136	0.478000	0.33099	0.893000	0.28336	1.238000	0.43771	0.449000	0.29647	CAA	NMNAT1	-	NULL	ENSG00000173614		0.438	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT1	HGNC	protein_coding	OTTHUMT00000005029.1	57	0.00	0	C			10041198	10041198	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000496751	ensembl	human	putative	69_37n	nonsense	43	17.31	9	SNP	0.215	G
NMU	10874	genome.wustl.edu	37	4	56475337	56475337	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:56475337C>T	ENST00000264218.3	-	4	334	c.229G>A	c.(229-231)Gca>Aca	p.A77T	NMU_ENST00000507338.1_Missense_Mutation_p.A77T|NMU_ENST00000505262.1_Missense_Mutation_p.A77T|NMU_ENST00000511469.1_Missense_Mutation_p.A61T|NMU_ENST00000515325.1_5'UTR	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	77					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TCCTCCAGTGCGTTGGATGCC	0.363																																						dbGAP											0													110.0	109.0	109.0					4																	56475337		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.229G>A	4.37:g.56475337C>T	ENSP00000264218:p.Ala77Thr			Missense_Mutation	SNP	pfam_NMU_C,smart_NMU_C	p.A77T	ENST00000264218.3	37	c.229	CCDS3501.1	4	.	.	.	.	.	.	.	.	.	.	C	6.516	0.463351	0.12402	.	.	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.32753	1.44;1.44;1.51;1.44	5.51	4.66	0.58398	.	0.541990	0.19289	N	0.117960	T	0.19087	0.0458	L	0.37750	1.13	0.09310	N	1	P	0.36438	0.553	B	0.23574	0.047	T	0.11155	-1.0599	10	0.23891	T	0.37	-3.7889	9.8865	0.41264	0.0:0.8404:0.0:0.1596	.	77	P48645	NMU_HUMAN	T	61;77;77;77;77	ENSP00000422399:A61T;ENSP00000264218:A77T;ENSP00000424246:A77T;ENSP00000422870:A77T	ENSP00000264218:A77T	A	-	1	0	NMU	56170094	0.411000	0.25384	0.062000	0.19696	0.055000	0.15305	1.046000	0.30354	1.306000	0.44926	0.655000	0.94253	GCA	NMU	-	NULL	ENSG00000109255		0.363	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMU	HGNC	protein_coding	OTTHUMT00000220006.2	66	0.00	0	C			56475337	56475337	-1	no_errors	ENST00000264218	ensembl	human	known	69_37n	missense	66	22.35	19	SNP	0.064	T
NOTCH2	4853	genome.wustl.edu	37	1	120539920	120539920	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:120539920G>A	ENST00000256646.2	-	4	670	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	NOTCH2_ENST00000602566.1_Missense_Mutation_p.H112Y	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	151	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACAGGGATGAGACAGGCAG	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													123.0	97.0	106.0					1																	120539920		2201	4299	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.451C>T	1.37:g.120539920G>A	ENSP00000256646:p.His151Tyr		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.H151Y	ENST00000256646.2	37	c.451	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625295	0.46840	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.37058	1.22	5.71	5.71	0.89125	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.193193	0.25302	U	0.031642	T	0.37320	0.0999	L	0.49350	1.555	0.29819	N	0.830993	P;B;P	0.44877	0.845;0.146;0.74	P;B;P	0.51487	0.585;0.222;0.671	T	0.20907	-1.0261	10	0.59425	D	0.04	.	18.8339	0.92153	0.0:0.0:1.0:0.0	.	112;151;151	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	Y	151;112;124;112	ENSP00000256646:H151Y	ENSP00000256646:H151Y	H	-	1	0	NOTCH2	120341443	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	3.982000	0.56909	2.686000	0.91538	0.585000	0.79938	CAT	NOTCH2	-	pirsf_Notch,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	61	0.00	0	G	NM_024408		120539920	120539920	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	32	37.25	19	SNP	0.998	A
NPR2	4882	genome.wustl.edu	37	9	35809214	35809214	+	Missense_Mutation	SNP	G	G	T	rs386352338		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:35809214G>T	ENST00000342694.2	+	21	3303	c.3048G>T	c.(3046-3048)caG>caT	p.Q1016H	SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	1016					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Q1016H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GATGCTTCCAGCTAGAGCTTC	0.547																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											113.0	114.0	114.0					9																	35809214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.3048G>T	9.37:g.35809214G>T	ENSP00000341083:p.Gln1016His		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.Q1016H	ENST00000342694.2	37	c.3048	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774622	0.31411	.	.	ENSG00000159899	ENST00000342694	T	0.81078	-1.45	5.97	5.05	0.67936	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.175677	0.27696	N	0.018233	T	0.59307	0.2184	N	0.02011	-0.69	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.57774	-0.7753	10	0.40728	T	0.16	.	14.5277	0.67900	0.0:0.2719:0.728:0.0	.	1016	P20594	ANPRB_HUMAN	H	1016	ENSP00000341083:Q1016H	ENSP00000341083:Q1016H	Q	+	3	2	NPR2	35799214	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.458000	0.21892	2.836000	0.97738	0.655000	0.94253	CAG	NPR2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000159899		0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	96	0.00	0	G			35809214	35809214	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	missense	58	13.24	9	SNP	1.000	T
NPRL3	8131	genome.wustl.edu	37	16	160604	160604	+	Splice_Site	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:160604C>G	ENST00000399953.3	-	6	950	c.548G>C	c.(547-549)gGa>gCa	p.G183A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.G4A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	183					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						ACCTTCATTTCCTACAAGAAT	0.537																																						dbGAP											0													77.0	80.0	79.0					16																	160604		1996	4154	6150	-	-	-	SO:0001630	splice_region_variant	0				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.548-1G>C	16.37:g.160604C>G			D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	pfam_NPR3,superfamily_Galactose-bd-like	p.G183A	ENST00000399953.3	37	c.548		16	.	.	.	.	.	.	.	.	.	.	C	5.602	0.295766	0.10622	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.32	2.18	0.27775	.	0.306888	0.33753	N	0.004600	T	0.15696	0.0378	.	.	.	0.23468	N	0.997615	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.26916	-1.0089	8	0.08381	T	0.77	.	7.4959	0.27490	0.1489:0.3053:0.5458:0.0	.	105;158;158;183	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	A	183;158;4	.	ENSP00000262313:G158A	G	-	2	0	NPRL3	100604	1.000000	0.71417	0.538000	0.28064	0.979000	0.70002	2.915000	0.48805	0.717000	0.32145	0.655000	0.94253	GGA	NPRL3	-	pfam_NPR3	ENSG00000103148		0.537	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	NPRL3	HGNC	protein_coding		43	0.00	0	C	NM_001039476	Missense_Mutation	160604	160604	-1	no_errors	ENST00000399953	ensembl	human	known	69_37n	missense	28	19.44	7	SNP	0.680	G
NRCAM	4897	genome.wustl.edu	37	7	107880462	107880462	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:107880462C>G	ENST00000425651.2	-	1	46	c.47G>C	c.(46-48)aGa>aCa	p.R16T	NRCAM_ENST00000379028.3_Missense_Mutation_p.R16T|NRCAM_ENST00000379024.4_Missense_Mutation_p.R16T|NRCAM_ENST00000379022.4_Missense_Mutation_p.R16T|NRCAM_ENST00000351718.4_Missense_Mutation_p.R16T|NRCAM_ENST00000413765.2_Missense_Mutation_p.R16T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	16					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.R16K(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGGGGCACTCTGCCCGCAGA	0.433																																						dbGAP											2	Substitution - Missense(2)	lung(2)											126.0	125.0	125.0					7																	107880462		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.47G>C	7.37:g.107880462C>G	ENSP00000401244:p.Arg16Thr		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R16T	ENST00000425651.2	37	c.47	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616260	0.46631	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.76316	0.37;0.59;0.31;0.39;0.37;0.37;-0.32;-0.88;-1.01;-1.01	6.17	4.34	0.51931	.	0.434175	0.28499	N	0.015134	T	0.66577	0.2803	L	0.34521	1.04	0.20926	N	0.999827	B;B;B;B;B	0.21905	0.062;0.016;0.018;0.018;0.037	B;B;B;B;B	0.31495	0.085;0.053;0.131;0.053;0.039	T	0.51301	-0.8723	10	0.13108	T	0.6	.	10.0282	0.42085	0.0:0.7608:0.1192:0.12	.	16;16;16;16;16	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	T	16	ENSP00000368314:R16T;ENSP00000407858:R16T;ENSP00000325269:R16T;ENSP00000368310:R16T;ENSP00000401244:R16T;ENSP00000368308:R16T;ENSP00000390421:R16T;ENSP00000390868:R16T;ENSP00000397544:R16T;ENSP00000408203:R16T	ENSP00000325269:R16T	R	-	2	0	NRCAM	107667698	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.974000	0.49272	1.596000	0.50062	0.655000	0.94253	AGA	NRCAM	-	NULL	ENSG00000091129		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	64	0.00	0	C	NM_001037132		107880462	107880462	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	0.818	G
NUB1	51667	genome.wustl.edu	37	7	151074240	151074240	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:151074240G>C	ENST00000355851.4	+	15	1854	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	NUB1_ENST00000568733.1_Missense_Mutation_p.D617H|WDR86_ENST00000463000.1_Intron|NUB1_ENST00000566856.1_Missense_Mutation_p.D579H|NUB1_ENST00000413040.2_Missense_Mutation_p.D603H	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	593	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AACTCTGGAAGATGAAGAAAT	0.383																																						dbGAP											0													52.0	50.0	51.0					7																	151074240		1869	4099	5968	-	-	-	SO:0001583	missense	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1777G>C	7.37:g.151074240G>C	ENSP00000348110:p.Asp593His		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.D617H	ENST00000355851.4	37	c.1849		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.513989|4.513989	0.85389|0.85389	.|.	.|.	ENSG00000013374|ENSG00000013374	ENST00000413040;ENST00000355851|ENST00000460712	T|.	0.44881|.	0.91|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.052249|.	0.85682|.	D|.	0.000000|.	T|T	0.67335|0.67335	0.2882|0.2882	L|L	0.41236|0.41236	1.265|1.265	0.46203|0.46203	D|D	0.998927|0.998927	D;D|.	0.64830|.	0.99;0.994|.	P;D|.	0.65573|.	0.865;0.936|.	T|T	0.61197|0.61197	-0.7111|-0.7111	10|5	0.87932|.	D|.	0|.	-20.787|-20.787	19.174|19.174	0.93594|0.93594	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	593;579|.	Q9Y5A7;Q9Y5A7-2|.	NUB1_HUMAN;.|.	H|N	579;593|179	ENSP00000348110:D593H|.	ENSP00000348110:D593H|.	D|K	+|+	1|3	0|2	NUB1|NUB1	150705173|150705173	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.885000|0.885000	0.51271|0.51271	6.923000|6.923000	0.75817|0.75817	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GAT|AAG	NUB1	-	NULL	ENSG00000013374		0.383	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		45	0.00	0	G	NM_016118		151074240	151074240	+1	no_errors	ENST00000568733	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	C
NUCKS1	64710	genome.wustl.edu	37	1	205693108	205693108	+	Splice_Site	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:205693108C>T	ENST00000367142.4	-	4	477	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	59						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGAGTCCTCACTATAAAGG	0.323																																						dbGAP											0													85.0	88.0	87.0					1																	205693108		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.174-1G>A	1.37:g.205693108C>T			Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	NULL	p.E59K	ENST00000367142.4	37	c.175	CCDS30987.1	1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523506	0.64747	.	.	ENSG00000069275	ENST00000367142;ENST00000264531	T	0.20881	2.04	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	L	0.53249	1.67	0.80722	D	1	P	0.49696	0.927	D	0.67725	0.953	T	0.11665	-1.0578	10	0.45353	T	0.12	-22.1007	18.345	0.90318	0.0:1.0:0.0:0.0	.	59	Q9H1E3	NUCKS_HUMAN	K	59;39	ENSP00000356110:E59K	ENSP00000264531:E39K	E	-	1	0	NUCKS1	203959731	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.111000	0.64628	2.488000	0.83962	0.650000	0.86243	GAG	NUCKS1	-	NULL	ENSG00000069275		0.323	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCKS1	HGNC	protein_coding	OTTHUMT00000087729.1	99	0.00	0	C	NM_022731	Missense_Mutation	205693108	205693108	-1	no_errors	ENST00000367142	ensembl	human	known	69_37n	missense	86	14.85	15	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17616916	17616916	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:17616916G>C	ENST00000262077.2	-	21	4184	c.4185C>G	c.(4183-4185)ttC>ttG	p.F1395L	NUP153_ENST00000537253.1_Missense_Mutation_p.F1426L|RNU6-190P_ENST00000384154.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1395					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGCCAAACTGGAAAGCCGAAC	0.418																																						dbGAP											0													100.0	93.0	95.0					6																	17616916		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.4185C>G	6.37:g.17616916G>C	ENSP00000262077:p.Phe1395Leu		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.F1426L	ENST00000262077.2	37	c.4278	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125600	0.37533	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.56611	0.45;0.45	5.3	5.3	0.74995	Retro-transposon transporting, conserved site (1);	0.000000	0.53938	D	0.000056	T	0.63943	0.2554	M	0.66939	2.045	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.66650	-0.5870	10	0.66056	D	0.02	-7.6565	13.6166	0.62112	0.0751:0.0:0.9249:0.0	.	1426;1375;1395	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	1395;1375;1426	ENSP00000262077:F1395L;ENSP00000444029:F1426L	ENSP00000262077:F1395L	F	-	3	2	NUP153	17724895	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.375000	0.44283	2.631000	0.89168	0.591000	0.81541	TTC	NUP153	-	pfam_Retro-transposon_transp_CS	ENSG00000124789		0.418	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	99	0.00	0	G			17616916	17616916	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	87	20.72	23	SNP	1.000	C
NUP210L	91181	genome.wustl.edu	37	1	154002391	154002391	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:154002391G>C	ENST00000368559.3	-	28	3907	c.3836C>G	c.(3835-3837)tCt>tGt	p.S1279C	NUP210L_ENST00000368553.1_Missense_Mutation_p.S212C|NUP210L_ENST00000271854.3_Missense_Mutation_p.S1279C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1279					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TACTTCATCAGAGAGTTCCAA	0.398																																						dbGAP											0													104.0	93.0	96.0					1																	154002391		1856	4092	5948	-	-	-	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3836C>G	1.37:g.154002391G>C	ENSP00000357547:p.Ser1279Cys		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.S1279C	ENST00000368559.3	37	c.3836	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716856	0.68844	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.27720	3.23;1.65;2.98	5.64	5.64	0.86602	.	0.094129	0.47852	D	0.000214	T	0.42698	0.1214	L	0.55990	1.75	0.36433	D	0.865032	D;D	0.76494	0.999;0.999	D;P	0.65573	0.936;0.887	T	0.36261	-0.9755	10	0.66056	D	0.02	-1.515	17.4801	0.87670	0.0:0.0:1.0:0.0	.	1279;1279	E7EP56;Q5VU65	.;P210L_HUMAN	C	1279;212;1279	ENSP00000357547:S1279C;ENSP00000357541:S212C;ENSP00000271854:S1279C	ENSP00000271854:S1279C	S	-	2	0	NUP210L	152269015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.141000	0.58038	2.656000	0.90262	0.603000	0.83216	TCT	NUP210L	-	NULL	ENSG00000143552		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	51	0.00	0	G	NM_207308		154002391	154002391	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	1.000	C
NUP214	8021	genome.wustl.edu	37	9	134049692	134049692	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:134049692G>A	ENST00000359428.5	+	22	3288	c.3144G>A	c.(3142-3144)gtG>gtA	p.V1048V	NUP214_ENST00000451030.1_Silent_p.V1049V|NUP214_ENST00000411637.2_Silent_p.V1038V			P35658	NU214_HUMAN	nucleoporin 214kDa	1048	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACCTGGTGTGATGGGAACTT	0.473			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													76.0	66.0	70.0					9																	134049692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3144G>A	9.37:g.134049692G>A			A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	smart_WD40_repeat	p.V1049	ENST00000359428.5	37	c.3147	CCDS6940.1	9																																																																																			NUP214	-	NULL	ENSG00000126883		0.473	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	27	0.00	0	G	NM_005085		134049692	134049692	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	silent	13	43.48	10	SNP	0.000	A
NXF3	56000	genome.wustl.edu	37	X	102338584	102338584	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:102338584G>C	ENST00000395065.3	-	4	489	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.L41V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	130	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATCAAATTCAGCAGCCACTTC	0.438																																						dbGAP											0													123.0	114.0	117.0					X																	102338584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.388C>G	X.37:g.102338584G>C	ENSP00000378504:p.Leu130Val		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.L130V	ENST00000395065.3	37	c.388	CCDS14503.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.884|7.884	0.730876|0.730876	0.15507|0.15507	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.58652	.|0.32;0.32	3.78|3.78	1.95|1.95	0.26073|0.26073	.|Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	.|0.076667	.|0.52532	.|D	.|0.000071	T|T	0.65123|0.65123	0.2661|0.2661	M|M	0.66939|0.66939	2.045|2.045	0.30217|0.30217	N|N	0.797156|0.797156	.|D;P	.|0.69078	.|0.997;0.51	.|D;P	.|0.66196	.|0.942;0.629	T|T	0.61377|0.61377	-0.7075|-0.7075	5|10	.|0.54805	.|T	.|0.06	-3.4597|-3.4597	3.7407|3.7407	0.08528|0.08528	0.1316:0.0:0.6266:0.2418|0.1316:0.0:0.6266:0.2418	.|.	.|130;130	.|B4DYI1;Q9H4D5	.|.;NXF3_HUMAN	G|V	6|130;41	.|ENSP00000378504:L130V;ENSP00000404347:L41V	.|ENSP00000378504:L130V	A|L	-|-	2|1	0|2	NXF3|NXF3	102225240|102225240	0.013000|0.013000	0.17824|0.17824	0.015000|0.015000	0.15790|0.15790	0.010000|0.010000	0.07245|0.07245	-0.162000|-0.162000	0.10012|0.10012	0.390000|0.390000	0.25115|0.25115	0.600000|0.600000	0.82982|0.82982	GCT|CTG	NXF3	-	pfam_Tap_RNA-bd	ENSG00000147206		0.438	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	125	0.00	0	G	NM_022052		102338584	102338584	-1	no_errors	ENST00000395065	ensembl	human	known	69_37n	missense	60	19.74	15	SNP	0.426	C
OCLN	100506658	genome.wustl.edu	37	5	68800079	68800079	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:68800079C>G	ENST00000355237.2	+	2	444	c.8C>G	c.(7-9)tCc>tGc	p.S3C	OCLN_ENST00000396442.2_Missense_Mutation_p.S3C|OCLN_ENST00000542132.1_5'UTR|OCLN_ENST00000538151.1_5'UTR|RP11-241G9.3_ENST00000514270.1_RNA|OCLN_ENST00000380766.2_Missense_Mutation_p.S3C	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	3					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCATGTCATCCAGGCCTCTT	0.373																																						dbGAP											0													86.0	83.0	84.0					5																	68800079		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.8C>G	5.37:g.68800079C>G	ENSP00000347379:p.Ser3Cys		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin	p.S3C	ENST00000355237.2	37	c.8	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545754	0.65198	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.79247	-1.24;-1.24;-1.25	6.08	5.21	0.72293	.	0.286195	0.40144	N	0.001164	T	0.68284	0.2984	N	0.14661	0.345	0.80722	D	1	P	0.46706	0.883	P	0.45971	0.499	T	0.73560	-0.3944	10	0.66056	D	0.02	-8.9162	13.454	0.61189	0.0:0.9229:0.0:0.0771	.	3	Q16625	OCLN_HUMAN	C	3	ENSP00000347379:S3C;ENSP00000379719:S3C;ENSP00000370143:S3C	ENSP00000347379:S3C	S	+	2	0	OCLN	68835835	0.839000	0.29477	0.042000	0.18584	0.917000	0.54804	3.773000	0.55333	1.557000	0.49525	0.591000	0.81541	TCC	OCLN	-	pirsf_Occludin	ENSG00000197822		0.373	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	71	0.00	0	C	NM_002538		68800079	68800079	+1	no_errors	ENST00000355237	ensembl	human	known	69_37n	missense	41	33.87	21	SNP	0.367	G
OFCC1	266553	genome.wustl.edu	37	6	9903633	9903633	+	5'UTR	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:9903633C>T	ENST00000472329.1	-	0	549				OFCC1_ENST00000316020.6_Intron			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTGCTCTCATCAAAAAGCTTC	0.308																																						dbGAP											0													127.0	125.0	126.0					6																	9903633		2203	4299	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000472329.1:c.-485G>A	6.37:g.9903633C>T			Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	NULL	p.D116N	ENST00000472329.1	37	c.346		6																																																																																			OFCC1	-	NULL	ENSG00000181355		0.308	OFCC1-003	KNOWN	basic	processed_transcript	OFCC1	HGNC	protein_coding	OTTHUMT00000353310.2	161	0.00	0	C	NM_153003		9903633	9903633	-1	no_start_codon	ENST00000469426	ensembl	human	known	69_37n	missense	147	14.04	24	SNP	0.055	T
ONECUT1	3175	genome.wustl.edu	37	15	53080980	53080980	+	Missense_Mutation	SNP	C	C	G	rs372517092		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:53080980C>G	ENST00000305901.5	-	1	1229	c.1102G>C	c.(1102-1104)Gca>Cca	p.A368P	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	368					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGCTCACCTGCTAAGCGGAGC	0.632																																						dbGAP											0													28.0	32.0	31.0					15																	53080980		2194	4292	6486	-	-	-	SO:0001583	missense	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1102G>C	15.37:g.53080980C>G	ENSP00000302630:p.Ala368Pro		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.A368P	ENST00000305901.5	37	c.1102	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761844	0.49468	.	.	ENSG00000169856	ENST00000305901	T	0.52983	0.64	4.5	3.59	0.41128	Homeodomain-related (1);Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.220867	0.46442	D	0.000300	T	0.66376	0.2783	M	0.79123	2.44	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.69057	-0.5246	10	0.59425	D	0.04	.	11.2836	0.49210	0.0:0.9106:0.0:0.0894	.	368	Q9UBC0	HNF6_HUMAN	P	368	ENSP00000302630:A368P	ENSP00000302630:A368P	A	-	1	0	ONECUT1	50868272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.578000	0.82498	1.120000	0.41904	0.563000	0.77884	GCA	ONECUT1	-	superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000169856		0.632	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	30	0.00	0	C			53080980	53080980	-1	no_errors	ENST00000305901	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	1.000	G
ONECUT1	3175	genome.wustl.edu	37	15	53081051	53081051	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:53081051C>T	ENST00000305901.5	-	1	1158	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GAAGGTCTCCCGGCCGGATTT	0.672																																						dbGAP											0													54.0	54.0	54.0					15																	53081051		2194	4293	6487	-	-	-	SO:0001583	missense	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1031G>A	15.37:g.53081051C>T	ENSP00000302630:p.Arg344Gln		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.R344Q	ENST00000305901.5	37	c.1031	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761616	0.89932	.	.	ENSG00000169856	ENST00000305901	T	0.62232	0.04	4.6	4.6	0.57074	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.62209	1.925	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	T	0.77542	-0.2549	10	0.54805	T	0.06	-15.1065	16.1655	0.81750	0.0:1.0:0.0:0.0	.	344	Q9UBC0	HNF6_HUMAN	Q	344	ENSP00000302630:R344Q	ENSP00000302630:R344Q	R	-	2	0	ONECUT1	50868343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.598000	0.82745	2.367000	0.80283	0.514000	0.50259	CGG	ONECUT1	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000169856		0.672	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	66	0.00	0	C			53081051	53081051	-1	no_errors	ENST00000305901	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	T
OR11H1	81061	genome.wustl.edu	37	22	16449769	16449769	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:16449769C>T	ENST00000252835.4	-	1	36	c.36G>A	c.(34-36)atG>atA	p.M12I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CAGAGACATTCATTAGGCCAG	0.373																																						dbGAP											0													1.0	1.0	1.0					22																	16449769		296	633	929	-	-	-	SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.36G>A	22.37:g.16449769C>T	ENSP00000252835:p.Met12Ile		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M12I	ENST00000252835.4	37	c.36	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	c	10.60	1.396824	0.25205	.	.	ENSG00000130538	ENST00000252835	T	0.00001	9.91	2.07	2.07	0.26955	.	0.134478	0.32175	U	0.006469	T	0.00039	0.0001	N	0.24115	0.695	0.22292	N	0.999223	B	0.26845	0.161	B	0.25884	0.064	T	0.01520	-1.1334	10	0.59425	D	0.04	.	6.4274	0.21778	0.2907:0.7093:0.0:0.0	.	12	Q8NG94	O11H1_HUMAN	I	12	ENSP00000252835:M12I	ENSP00000252835:M12I	M	-	3	0	OR11H1	14829769	0.001000	0.12720	0.962000	0.40283	0.212000	0.24457	0.356000	0.20181	1.103000	0.41568	0.064000	0.15345	ATG	OR11H1	-	NULL	ENSG00000130538		0.373	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	35	0.00	0	C	NM_001005239		16449769	16449769	-1	no_errors	ENST00000252835	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	T
OR13F1	138805	genome.wustl.edu	37	9	107266827	107266827	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:107266827C>T	ENST00000334726.2	+	1	373	c.284C>T	c.(283-285)tCa>tTa	p.S95L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTCATTCTCAGGGTGCGCC	0.517																																						dbGAP											0													112.0	100.0	104.0					9																	107266827		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.284C>T	9.37:g.107266827C>T	ENSP00000334452:p.Ser95Leu		Q6IF50	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S95L	ENST00000334726.2	37	c.284	CCDS35087.1	9	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757063	0.15846	.	.	ENSG00000186881	ENST00000334726	T	0.00392	7.58	4.26	-0.218	0.13142	GPCR, rhodopsin-like superfamily (1);	0.991948	0.08178	N	0.986020	T	0.00210	0.0006	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15954	-1.0419	10	0.30854	T	0.27	.	10.1833	0.42982	0.0:0.8691:0.0:0.1309	.	95	Q8NGS4	O13F1_HUMAN	L	95	ENSP00000334452:S95L	ENSP00000334452:S95L	S	+	2	0	OR13F1	106306648	0.000000	0.05858	0.916000	0.36221	0.828000	0.46876	-0.356000	0.07661	-0.033000	0.13736	0.650000	0.86243	TCA	OR13F1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000186881		0.517	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	HGNC	protein_coding	OTTHUMT00000053475.1	63	0.00	0	C			107266827	107266827	+1	no_errors	ENST00000334726	ensembl	human	known	69_37n	missense	36	26.00	13	SNP	0.040	T
OR1I1	126370	genome.wustl.edu	37	19	15198731	15198731	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:15198731C>G	ENST00000209540.2	+	1	941	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCCCCATGCTCAACCCCTTTA	0.552																																						dbGAP											0													120.0	103.0	109.0					19																	15198731		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.855C>G	19.37:g.15198731C>G			Q96R92	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L285	ENST00000209540.2	37	c.855	CCDS32937.1	19																																																																																			OR1I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000094661		0.552	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	HGNC	protein_coding	OTTHUMT00000465665.1	50	0.00	0	C			15198731	15198731	+1	no_errors	ENST00000209540	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.997	G
OR2W3	343171	genome.wustl.edu	37	1	248058939	248058939	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:248058939C>T	ENST00000360358.3	+	1	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F	OR2W3_ENST00000537741.1_Silent_p.F17F	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACTGGGATTCTCTGACCGAC	0.498																																						dbGAP											0													90.0	85.0	87.0					1																	248058939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.51C>T	1.37:g.248058939C>T			Q6IF06|Q8NG86	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F17	ENST00000360358.3	37	c.51	CCDS31099.1	1																																																																																			OR2W3	-	NULL	ENSG00000238243		0.498	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	55	0.00	0	C	NM_001001957		248058939	248058939	+1	no_errors	ENST00000360358	ensembl	human	known	69_37n	silent	25	26.47	9	SNP	0.433	T
OR4E2	26686	genome.wustl.edu	37	14	22133391	22133391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:22133391C>A	ENST00000408935.1	+	1	95	c.95C>A	c.(94-96)tCa>tAa	p.S32*		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATGGCATTCTCAGCCATTTAT	0.423																																						dbGAP											0													211.0	198.0	202.0					14																	22133391		1957	4150	6107	-	-	-	SO:0001587	stop_gained	0				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.95C>A	14.37:g.22133391C>A	ENSP00000386195:p.Ser32*		Q6IET6|Q96R62	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S32*	ENST00000408935.1	37	c.95	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658171	0.47467	.	.	ENSG00000221977	ENST00000408935	.	.	.	5.11	4.22	0.49857	.	0.231716	0.21892	U	0.067576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	8.0805	0.30741	0.0:0.8141:0.0:0.1859	.	.	.	.	X	32	.	ENSP00000386195:S32X	S	+	2	0	OR4E2	21203231	0.000000	0.05858	0.404000	0.26397	0.284000	0.27059	0.381000	0.20619	1.138000	0.42230	0.585000	0.79938	TCA	OR4E2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000221977		0.423	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	122	0.00	0	C			22133391	22133391	+1	no_errors	ENST00000408935	ensembl	human	known	69_37n	nonsense	106	15.20	19	SNP	0.514	A
OR51T1	401665	genome.wustl.edu	37	11	4903616	4903616	+	Missense_Mutation	SNP	G	G	T	rs75240604		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:4903616G>T	ENST00000322049.1	+	1	487	c.487G>T	c.(487-489)Gta>Tta	p.V163L	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.V190L|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCTTCTTGTAGCCATAAA	0.453																																						dbGAP											0													166.0	154.0	158.0					11																	4903616		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.487G>T	11.37:g.4903616G>T	ENSP00000322679:p.Val163Leu		Q6IFH9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V190L	ENST00000322049.1	37	c.568		11	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.428628	0.00184	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.70631	-0.5;-0.5	4.8	0.492	0.16872	GPCR, rhodopsin-like superfamily (1);	1.339710	0.05496	N	0.557532	T	0.35653	0.0939	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31280	-0.9949	10	0.08837	T	0.75	.	2.974	0.05932	0.1301:0.5393:0.1604:0.1702	.	163	Q8NGJ9	O51T1_HUMAN	L	190;163	ENSP00000369738:V190L;ENSP00000322679:V163L	ENSP00000322679:V163L	V	+	1	0	OR51T1	4860192	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-2.188000	0.01249	0.184000	0.20083	0.484000	0.47621	GTA	OR51T1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176900		0.453	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	OR51T1	HGNC	protein_coding	OTTHUMT00000142180.1	88	0.00	0	G	NM_001004759		4903616	4903616	+1	no_errors	ENST00000380378	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	0.001	T
OR56A4	120793	genome.wustl.edu	37	11	6024305	6024305	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:6024305G>C	ENST00000330728.4	-	1	119	c.74C>G	c.(73-75)tCt>tGt	p.S25C		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACATTCTAGACGTAGTAGA	0.388																																						dbGAP											0													119.0	129.0	125.0					11																	6024305		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.74C>G	11.37:g.6024305G>C	ENSP00000328215:p.Ser25Cys		B9EH17	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S25C	ENST00000330728.4	37	c.74	CCDS31404.1	11	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886293	0.33348	.	.	ENSG00000183389	ENST00000330728	T	0.00611	6.23	3.64	-4.53	0.03462	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.44436	-0.9328	7	0.87932	D	0	.	2.4131	0.04430	0.1562:0.1043:0.3224:0.4171	.	.	.	.	C	25	ENSP00000328215:S25C	ENSP00000328215:S25C	S	-	2	0	OR56A4	5980881	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.466000	0.06672	-1.669000	0.01470	-1.164000	0.01763	TCT	OR56A4	-	NULL	ENSG00000183389		0.388	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A4	HGNC	protein_coding	OTTHUMT00000383756.2	67	0.00	0	G	NM_001005179		6024305	6024305	-1	no_errors	ENST00000330728	ensembl	human	known	69_37n	missense	66	29.03	27	SNP	0.000	C
OR6K6	128371	genome.wustl.edu	37	1	158725148	158725148	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:158725148C>T	ENST00000368144.2	+	1	639	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTGTGGCTTCCTCCTTGTGC	0.473																																						dbGAP											0													149.0	121.0	130.0					1																	158725148		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.543C>T	1.37:g.158725148C>T			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F181	ENST00000368144.2	37	c.543	CCDS30904.1	1																																																																																			OR6K6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180433		0.473	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	79	0.00	0	C	NM_001005184		158725148	158725148	+1	no_errors	ENST00000368144	ensembl	human	known	69_37n	silent	51	26.76	19	SNP	0.112	T
OR9A4	130075	genome.wustl.edu	37	7	141619286	141619286	+	Missense_Mutation	SNP	T	T	G	rs75398200		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:141619286T>G	ENST00000548136.1	+	1	670	c.611T>G	c.(610-612)gTt>gGt	p.V204G	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTAATGGCTGTTTTTGTTCTC	0.423																																						dbGAP											0													119.0	127.0	124.0					7																	141619286		2133	4279	6412	-	-	-	SO:0001583	missense	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.611T>G	7.37:g.141619286T>G	ENSP00000448789:p.Val204Gly		B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V204G	ENST00000548136.1	37	c.611	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	.	13.74	2.325978	0.41197	.	.	ENSG00000258083	ENST00000548136	T	0.39787	1.06	3.8	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.24236	0.0587	N	0.12746	0.255	0.28930	N	0.891611	B	0.10296	0.003	B	0.12837	0.008	T	0.13845	-1.0494	9	0.66056	D	0.02	-10.9102	7.1173	0.25424	0.0:0.1142:0.0:0.8858	.	204	Q8NGU2	OR9A4_HUMAN	G	204	ENSP00000448789:V204G	ENSP00000386148:V204G	V	+	2	0	OR9A4	141265755	0.000000	0.05858	0.877000	0.34402	0.857000	0.48899	-0.338000	0.07842	1.723000	0.51488	0.533000	0.62120	GTT	OR9A4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000258083		0.423	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	118	0.00	0	T	NM_001001656		141619286	141619286	+1	no_errors	ENST00000548136	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	0.370	G
OR9K2	441639	genome.wustl.edu	37	12	55524223	55524223	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:55524223C>G	ENST00000305377.5	+	1	759	c.671C>G	c.(670-672)tCt>tGt	p.S224C		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGAATGATATCTTTTTCCTTA	0.353																																						dbGAP											0													100.0	95.0	97.0					12																	55524223		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.671C>G	12.37:g.55524223C>G	ENSP00000307598:p.Ser224Cys		B9EH19|Q6IFD6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S224C	ENST00000305377.5	37	c.671	CCDS31814.1	12	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465380	0.26335	.	.	ENSG00000170605	ENST00000305377	T	0.00123	8.7	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.128961	0.35838	N	0.002953	T	0.00271	0.0008	L	0.41906	1.305	0.09310	N	1	D	0.65815	0.995	D	0.71184	0.972	T	0.55623	-0.8112	10	0.87932	D	0	-16.1311	5.23	0.15416	0.197:0.6798:0.0:0.1231	.	224	Q8NGE7	OR9K2_HUMAN	C	224	ENSP00000307598:S224C	ENSP00000307598:S224C	S	+	2	0	OR9K2	53810490	0.000000	0.05858	0.140000	0.22221	0.566000	0.35808	-1.311000	0.02723	2.753000	0.94483	0.650000	0.86243	TCT	OR9K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170605		0.353	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	HGNC	protein_coding	OTTHUMT00000406105.1	93	0.00	0	C			55524223	55524223	+1	no_errors	ENST00000305377	ensembl	human	known	69_37n	missense	57	30.95	26	SNP	0.006	G
OSBPL7	114881	genome.wustl.edu	37	17	45893814	45893814	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:45893814G>A	ENST00000007414.3	-	11	1154	c.963C>T	c.(961-963)ctC>ctT	p.L321L	OSBPL7_ENST00000392507.3_Silent_p.L321L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	321					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTTCCATGGTGAGGGCGGCCA	0.662																																						dbGAP											0													69.0	49.0	56.0					17																	45893814		2196	4286	6482	-	-	-	SO:0001819	synonymous_variant	0			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.963C>T	17.37:g.45893814G>A			D3DTT6|Q6PIV6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L321	ENST00000007414.3	37	c.963	CCDS11515.1	17																																																																																			OSBPL7	-	NULL	ENSG00000006025		0.662	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	HGNC	protein_coding	OTTHUMT00000441367.1	46	0.00	0	G	NM_017731		45893814	45893814	-1	no_errors	ENST00000007414	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	0.998	A
OSTN	344901	genome.wustl.edu	37	3	190967882	190967882	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:190967882G>A	ENST00000339051.1	+	3	374	c.374G>A	c.(373-375)aGa>aAa	p.R125K	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	125					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CGGATTGGTAGAAACCGGCTT	0.363																																						dbGAP											0													113.0	117.0	115.0					3																	190967882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.374G>A	3.37:g.190967882G>A	ENSP00000342356:p.Arg125Lys		A1A4U3	Missense_Mutation	SNP	pfam_Osteocrin	p.R125K	ENST00000339051.1	37	c.374	CCDS3299.1	3	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022704	0.35701	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.52	3.62	0.41486	.	0.885560	0.10025	N	0.725449	T	0.31389	0.0795	L	0.36672	1.1	0.20307	N	0.999918	B	0.02656	0.0	B	0.06405	0.002	T	0.17684	-1.0361	9	0.27785	T	0.31	-18.7569	7.1964	0.25855	0.0907:0.1695:0.7398:0.0	.	125	P61366	OSTN_HUMAN	K	125	.	ENSP00000342356:R125K	R	+	2	0	OSTN	192450576	0.968000	0.33430	0.996000	0.52242	0.859000	0.49053	1.595000	0.36708	1.335000	0.45486	0.655000	0.94253	AGA	OSTN	-	pfam_Osteocrin	ENSG00000188729		0.363	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTN	HGNC	protein_coding	OTTHUMT00000343350.1	82	0.00	0	G	NM_198184		190967882	190967882	+1	no_errors	ENST00000339051	ensembl	human	known	69_37n	missense	69	23.91	22	SNP	0.563	A
MED29	55588	genome.wustl.edu	37	19	39880904	39880904	+	5'Flank	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:39880904C>A	ENST00000599213.2	+	0	0				MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Intron|PAF1_ENST00000595564.1_Intron|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Nonsense_Mutation_p.E25*			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTCACCTCTCAGGCAGAGTC	0.587																																						dbGAP											0													48.0	48.0	48.0					19																	39880904		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880904C>A	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.E25*	ENST00000599213.2	37	c.73		19	.	.	.	.	.	.	.	.	.	.	c	39	7.394840	0.98258	.	.	ENSG00000006712	ENST00000221265	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7903	0.85588	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000221265:E25X	E	-	1	0	PAF1	44572744	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.503000	0.66962	2.828000	0.97474	0.651000	0.88453	GAG	PAF1	-	NULL	ENSG00000006712		0.587	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	85	0.00	0	C	XM_290829		39880904	39880904	-1	no_errors	ENST00000221265	ensembl	human	known	69_37n	nonsense	57	25.97	20	SNP	1.000	A
PAK1	5058	genome.wustl.edu	37	11	77054952	77054952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:77054952G>A	ENST00000356341.3	-	10	1441	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	PAK1_ENST00000528203.1_Nonsense_Mutation_p.Q206*|PAK1_ENST00000530617.1_Nonsense_Mutation_p.Q304*|PAK1_ENST00000278568.4_Nonsense_Mutation_p.Q304*|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGCTGCTGCTGAAGATTCATC	0.413																																						dbGAP											0													206.0	177.0	187.0					11																	77054952		2200	4292	6492	-	-	-	SO:0001587	stop_gained	0			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.910C>T	11.37:g.77054952G>A	ENSP00000348696:p.Gln304*		O75561|Q13567|Q32M53|Q32M54|Q86W79	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.Q304*	ENST00000356341.3	37	c.910	CCDS8250.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.935728|10.935728	0.99491|0.99491	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203|ENST00000533285	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80352	.|0.4607	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77869	.|-0.2427	.|3	0.35671|.	T|.	0.21|.	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	304;304;304;206|25	.|.	ENSP00000278568:Q304X|.	Q|S	-|-	1|2	0|0	PAK1|PAK1	76732600|76732600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.444000|9.444000	0.97578|0.97578	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CAG|TCA	PAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000149269		0.413	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	129	0.00	0	G	NM_002576		77054952	77054952	-1	no_errors	ENST00000278568	ensembl	human	known	69_37n	nonsense	178	13.53	28	SNP	1.000	A
PALB2	79728	genome.wustl.edu	37	16	23641648	23641648	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:23641648G>A	ENST00000261584.4	-	5	1979	c.1827C>T	c.(1825-1827)atC>atT	p.I609I		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	609					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GAAAGTCTGTGATACTGAGAA	0.398			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													77.0	72.0	74.0					16																	23641648		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1827C>T	16.37:g.23641648G>A			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.I609	ENST00000261584.4	37	c.1827	CCDS32406.1	16																																																																																			PALB2	-	NULL	ENSG00000083093		0.398	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	56	0.00	0	G	NM_024675		23641648	23641648	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	silent	49	22.22	14	SNP	0.892	A
PANK3	79646	genome.wustl.edu	37	5	167995968	167995968	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:167995968G>A	ENST00000239231.6	-	2	380	c.64C>T	c.(64-66)Cta>Tta	p.L22L	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	22					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AGCTTTACTAGAGTTCCCCCA	0.313																																						dbGAP											0													80.0	78.0	79.0					5																	167995968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.64C>T	5.37:g.167995968G>A			D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.L22	ENST00000239231.6	37	c.64	CCDS4368.1	5																																																																																			PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000120137		0.313	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	45	0.00	0	G	NM_024594		167995968	167995968	-1	no_errors	ENST00000239231	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.759	A
PARP10	84875	genome.wustl.edu	37	8	145058738	145058738	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:145058738C>T	ENST00000313028.7	-	5	1526	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	PARP10_ENST00000525773.1_Missense_Mutation_p.E490K|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.E478K	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	478					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCGGTCCTTCAAGTGGCAAG	0.587																																						dbGAP											0													93.0	90.0	91.0					8																	145058738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1432G>A	8.37:g.145058738C>T	ENSP00000325618:p.Glu478Lys		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E478K	ENST00000313028.7	37	c.1432	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722719	0.89298	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.13307	2.6;2.61;2.61	3.89	3.89	0.44902	.	0.299795	0.23594	N	0.046515	T	0.27629	0.0679	M	0.65975	2.015	0.36274	D	0.855366	D;D;D	0.58268	0.97;0.982;0.963	P;P;P	0.54346	0.749;0.715;0.644	T	0.38067	-0.9678	10	0.66056	D	0.02	.	13.7926	0.63150	0.0:1.0:0.0:0.0	.	490;478;478	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	K	478;184;478;490	ENSP00000431620:E478K;ENSP00000325618:E478K;ENSP00000434776:E490K	ENSP00000325618:E478K	E	-	1	0	PARP10	145130726	0.212000	0.23540	0.272000	0.24630	0.701000	0.40568	2.208000	0.42797	1.903000	0.55091	0.552000	0.68991	GAA	PARP10	-	NULL	ENSG00000178685		0.587	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	37	0.00	0	C	NM_032789		145058738	145058738	-1	no_errors	ENST00000313028	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	0.720	T
PARP10	84875	genome.wustl.edu	37	8	145058780	145058780	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:145058780C>T	ENST00000313028.7	-	5	1484	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PARP10_ENST00000525773.1_Missense_Mutation_p.D476N|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.D464N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	464					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D464N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAAGAAGGTCCTCATGGTAG	0.607																																						dbGAP											1	Substitution - Missense(1)	lung(1)											126.0	122.0	123.0					8																	145058780		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1390G>A	8.37:g.145058780C>T	ENSP00000325618:p.Asp464Asn		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D464N	ENST00000313028.7	37	c.1390	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876182	0.51801	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.11712	2.75;2.76;2.75	3.59	3.59	0.41128	.	0.137003	0.32769	N	0.005669	T	0.12987	0.0315	M	0.65975	2.015	0.31753	N	0.634344	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.05716	-1.0868	10	0.21014	T	0.42	.	13.1552	0.59514	0.0:1.0:0.0:0.0	.	476;464;464	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	N	464;170;464;476	ENSP00000431620:D464N;ENSP00000325618:D464N;ENSP00000434776:D476N	ENSP00000325618:D464N	D	-	1	0	PARP10	145130768	0.971000	0.33674	0.974000	0.42286	0.844000	0.47949	1.643000	0.37217	1.746000	0.51805	0.552000	0.68991	GAC	PARP10	-	NULL	ENSG00000178685		0.607	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	40	0.00	0	C	NM_032789		145058780	145058780	-1	no_errors	ENST00000313028	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	T
PARP10	84875	genome.wustl.edu	37	8	145059210	145059210	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:145059210C>T	ENST00000313028.7	-	5	1054	c.960G>A	c.(958-960)atG>atA	p.M320I	PARP10_ENST00000525773.1_Missense_Mutation_p.M332I|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.M320I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	320					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCTGTTGTCATAATCCCTC	0.617																																						dbGAP											0													81.0	80.0	80.0					8																	145059210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.960G>A	8.37:g.145059210C>T	ENSP00000325618:p.Met320Ile		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.M320I	ENST00000313028.7	37	c.960	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	5.418	0.262273	0.10239	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.29142	2.93;2.96;2.96;1.58	0.635	0.635	0.17723	.	.	.	.	.	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32798	-0.9893	8	0.16896	T	0.51	.	.	.	.	.	332;320;320	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	I	320;26;320;332;235	ENSP00000431620:M320I;ENSP00000325618:M320I;ENSP00000434776:M332I;ENSP00000314320:M235I	ENSP00000325618:M320I	M	-	3	0	PARP10	145131198	0.007000	0.16637	0.003000	0.11579	0.016000	0.09150	0.000000	0.12993	0.625000	0.30304	0.177000	0.17058	ATG	PARP10	-	NULL	ENSG00000178685		0.617	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	41	0.00	0	C	NM_032789		145059210	145059210	-1	no_errors	ENST00000313028	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.003	T
PARP10	84875	genome.wustl.edu	37	8	145059220	145059220	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:145059220C>T	ENST00000313028.7	-	5	1044	c.950G>A	c.(949-951)aGa>aAa	p.R317K	PARP10_ENST00000525773.1_Missense_Mutation_p.R329K|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.R317K	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	317					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATAATCCCTCTACCCTGCAC	0.622																																						dbGAP											0													80.0	79.0	79.0					8																	145059220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.950G>A	8.37:g.145059220C>T	ENSP00000325618:p.Arg317Lys		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R317K	ENST00000313028.7	37	c.950	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947838	0.34377	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.29655	3.0;3.0;3.0;1.56	1.09	-2.19	0.07015	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.32322	-0.9911	9	0.05721	T	0.95	.	6.5052	0.22192	0.0:0.581:0.419:0.0	.	329;317;317	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	K	317;23;317;329;232	ENSP00000431620:R317K;ENSP00000325618:R317K;ENSP00000434776:R329K;ENSP00000314320:R232K	ENSP00000325618:R317K	R	-	2	0	PARP10	145131208	0.000000	0.05858	0.008000	0.14137	0.023000	0.10783	0.250000	0.18235	-1.648000	0.01510	-1.619000	0.00793	AGA	PARP10	-	NULL	ENSG00000178685		0.622	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	45	0.00	0	C	NM_032789		145059220	145059220	-1	no_errors	ENST00000313028	ensembl	human	known	69_37n	missense	20	25.00	7	SNP	0.001	T
PARP3	10039	genome.wustl.edu	37	3	51978149	51978149	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:51978149G>C	ENST00000417220.2	+	4	716	c.228G>C	c.(226-228)gaG>gaC	p.E76D	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Missense_Mutation_p.E76D|PARP3_ENST00000398755.3_Missense_Mutation_p.E83D			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	76					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCAACATCGAGAACAACAACA	0.597																																						dbGAP											0													190.0	206.0	201.0					3																	51978149		2093	4222	6315	-	-	-	SO:0001583	missense	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.228G>C	3.37:g.51978149G>C	ENSP00000395951:p.Glu76Asp		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E83D	ENST00000417220.2	37	c.249	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	G	8.772	0.926139	0.18056	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	4.87	-7.59	0.01308	WGR domain (4);	0.286349	0.39083	N	0.001464	T	0.05868	0.0153	N	0.16743	0.435	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09487	-1.0672	10	0.40728	T	0.16	-14.0912	2.9184	0.05760	0.3366:0.3914:0.1045:0.1676	.	83;76	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	D	76;76;83;76	ENSP00000395951:E76D;ENSP00000401511:E76D;ENSP00000381740:E83D;ENSP00000417625:E76D	ENSP00000381740:E83D	E	+	3	2	PARP3	51953189	0.000000	0.05858	0.001000	0.08648	0.177000	0.22998	-1.739000	0.01840	-1.121000	0.02949	-0.136000	0.14681	GAG	PARP3	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain	ENSG00000041880		0.597	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	43	0.00	0	G	NM_005485.4		51978149	51978149	+1	no_errors	ENST00000398755	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.000	C
PARP3	10039	genome.wustl.edu	37	3	51978890	51978890	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:51978890G>A	ENST00000417220.2	+	6	1086	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Missense_Mutation_p.E200K|PARP3_ENST00000398755.3_Missense_Mutation_p.E207K			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	200	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E207Q(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTCAGCAAGGAGATGTTCAA	0.622																																						dbGAP											1	Substitution - Missense(1)	lung(1)											50.0	52.0	51.0					3																	51978890		2099	4246	6345	-	-	-	SO:0001583	missense	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.598G>A	3.37:g.51978890G>A	ENSP00000395951:p.Glu200Lys		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E207K	ENST00000417220.2	37	c.619	CCDS43097.1	3	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668403	0.67814	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.01	5.01	0.66863	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.135884	0.64402	D	0.000003	T	0.13670	0.0331	N	0.25201	0.72	0.53688	D	0.999976	B;B	0.26041	0.071;0.14	B;B	0.23018	0.022;0.043	T	0.08351	-1.0726	10	0.29301	T	0.29	-17.7066	18.0995	0.89501	0.0:0.0:1.0:0.0	.	207;200	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	K	200;200;207;200	ENSP00000395951:E200K;ENSP00000401511:E200K;ENSP00000381740:E207K;ENSP00000417625:E200K	ENSP00000381740:E207K	E	+	1	0	PARP3	51953930	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.201000	0.77847	2.585000	0.87301	0.655000	0.94253	GAG	PARP3	-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	ENSG00000041880		0.622	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	26	0.00	0	G	NM_005485.4		51978890	51978890	+1	no_errors	ENST00000398755	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	A
PARP9	83666	genome.wustl.edu	37	3	122274435	122274435	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:122274435G>C	ENST00000360356.2	-	4	915	c.688C>G	c.(688-690)Cac>Gac	p.H230D	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.H195D|PARP9_ENST00000462315.1_Missense_Mutation_p.H195D|PARP9_ENST00000477522.2_Missense_Mutation_p.H195D	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	230	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GTCTTAATGTGAGTATTTTTA	0.413																																						dbGAP											0													69.0	70.0	70.0					3																	122274435		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.688C>G	3.37:g.122274435G>C	ENSP00000353512:p.His230Asp		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.H230D	ENST00000360356.2	37	c.688	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.640027	0.00799	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.27	-10.5	0.00291	Appr-1-p processing (3);	3.109020	0.00604	N	0.000398	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.002;0.002	T	0.30446	-0.9978	10	0.16420	T	0.52	.	4.6935	0.12791	0.0749:0.3106:0.3175:0.297	.	195;230;195	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	D	230;195;195;153;195	ENSP00000353512:H230D;ENSP00000419506:H195D;ENSP00000419001:H195D;ENSP00000418894:H195D	ENSP00000353512:H230D	H	-	1	0	PARP9	123757125	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.951000	0.00166	-6.941000	0.00002	-0.768000	0.03414	CAC	PARP9	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000138496		0.413	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	65	0.00	0	G	NM_031458		122274435	122274435	-1	no_errors	ENST00000360356	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.000	C
PARP9	83666	genome.wustl.edu	37	3	122274953	122274953	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:122274953C>G	ENST00000360356.2	-	4	397	c.170G>C	c.(169-171)gGa>gCa	p.G57A	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.G22A|PARP9_ENST00000462315.1_Missense_Mutation_p.G22A|PARP9_ENST00000477522.2_Missense_Mutation_p.G22A	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	57					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATAGTTTTCTCCAAGAGCACC	0.318																																						dbGAP											0													30.0	31.0	31.0					3																	122274953		2129	4266	6395	-	-	-	SO:0001583	missense	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.170G>C	3.37:g.122274953C>G	ENSP00000353512:p.Gly57Ala		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.G57A	ENST00000360356.2	37	c.170	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	C	1.998	-0.430143	0.04701	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000462315;ENST00000466126	T;T;T;T	0.16597	3.34;3.19;3.19;2.33	5.4	-6.48	0.01896	.	1.986490	0.01941	N	0.041893	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.19148	0.002;0.024;0.006	T	0.27536	-1.0071	10	0.36615	T	0.2	.	6.198	0.20559	0.2243:0.2053:0.0:0.5705	.	22;57;22	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	A	57;22;22;22;35	ENSP00000353512:G57A;ENSP00000419506:G22A;ENSP00000419001:G22A;ENSP00000418894:G22A	ENSP00000353512:G57A	G	-	2	0	PARP9	123757643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.697000	0.00826	-1.150000	0.02840	-0.137000	0.14449	GGA	PARP9	-	NULL	ENSG00000138496		0.318	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	14	0.00	0	C	NM_031458		122274953	122274953	-1	no_errors	ENST00000360356	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.000	G
PARVG	64098	genome.wustl.edu	37	22	44585003	44585003	+	Missense_Mutation	SNP	C	C	G	rs200993379	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:44585003C>G	ENST00000444313.3	+	6	741	c.257C>G	c.(256-258)gCg>gGg	p.A86G	PARVG_ENST00000422871.1_Missense_Mutation_p.A86G|PARVG_ENST00000415224.1_Missense_Mutation_p.A86G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	86	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAGAGGCTGGCGGCGCTCAAG	0.657																																						dbGAP											0													52.0	55.0	54.0					22																	44585003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.257C>G	22.37:g.44585003C>G	ENSP00000391583:p.Ala86Gly		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A86G	ENST00000444313.3	37	c.257	CCDS14057.1	22	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361742	0.24684	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.95205	-3.64;-3.64;-3.64	4.86	2.59	0.31030	Calponin homology domain (4);	0.476104	0.20767	N	0.086056	D	0.91175	0.7220	L	0.40543	1.245	0.19775	N	0.999956	B	0.26602	0.154	B	0.33339	0.162	T	0.83293	-0.0032	10	0.35671	T	0.21	0.6589	12.4603	0.55729	0.0:0.6772:0.3228:0.0	.	86	Q9HBI0	PARVG_HUMAN	G	86	ENSP00000391453:A86G;ENSP00000391583:A86G;ENSP00000416761:A86G	ENSP00000349378:A86G	A	+	2	0	PARVG	42916336	0.875000	0.30112	0.075000	0.20258	0.690000	0.40134	1.733000	0.38156	1.025000	0.39708	0.555000	0.69702	GCG	PARVG	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	ENSG00000138964		0.657	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVG	HGNC	protein_coding	OTTHUMT00000318238.4	32	0.00	0	C	NM_022141		44585003	44585003	+1	no_errors	ENST00000415224	ensembl	human	known	69_37n	missense	9	55.00	11	SNP	0.189	G
PCDHA3	56145	genome.wustl.edu	37	5	140181299	140181299	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:140181299G>A	ENST00000522353.2	+	1	517	c.517G>A	c.(517-519)Gat>Aat	p.D173N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D173N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACAGTCTTGATTCCACTGA	0.408																																						dbGAP											0													69.0	73.0	72.0					5																	140181299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.517G>A	5.37:g.140181299G>A	ENSP00000429808:p.Asp173Asn		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D173N	ENST00000522353.2	37	c.517	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	10.19	1.282505	0.23392	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.51574	0.7;0.7	4.86	1.4	0.22301	Cadherin (4);Cadherin-like (1);	0.477560	0.16907	N	0.194646	T	0.18964	0.0455	N	0.01417	-0.88	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	T	0.21415	-1.0246	10	0.45353	T	0.12	.	9.6794	0.40061	0.869:0.0:0.131:0.0	.	173;173	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	173	ENSP00000429808:D173N;ENSP00000434086:D173N	ENSP00000429808:D173N	D	+	1	0	PCDHA3	140161483	0.001000	0.12720	0.370000	0.25965	0.926000	0.56050	1.736000	0.38187	0.072000	0.16694	0.467000	0.42956	GAT	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.408	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	44	0.00	0	G	NM_018906		140181299	140181299	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	missense	31	36.00	18	SNP	0.052	A
PCDHGA2	56113	genome.wustl.edu	37	5	140719182	140719182	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:140719182C>A	ENST00000394576.2	+	1	644	c.644C>A	c.(643-645)tCt>tAt	p.S215Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTGGCTTCTGATGGGGGT	0.597																																						dbGAP											0													73.0	69.0	71.0					5																	140719182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.644C>A	5.37:g.140719182C>A	ENSP00000378077:p.Ser215Tyr		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S215Y	ENST00000394576.2	37	c.644	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	0.178	-1.065404	0.01934	.	.	ENSG00000081853	ENST00000394576	T	0.54675	0.56	5.26	1.84	0.25277	Cadherin (4);Cadherin-like (1);	0.735476	0.11026	U	0.607761	T	0.41143	0.1146	L	0.45422	1.42	0.09310	N	1	B;B	0.20459	0.002;0.045	B;B	0.27076	0.019;0.076	T	0.33189	-0.9878	10	0.22706	T	0.39	.	5.1179	0.14845	0.0:0.5014:0.1485:0.3501	.	215;215	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Y	215	ENSP00000378077:S215Y	ENSP00000378077:S215Y	S	+	2	0	PCDHGA2	140699366	0.000000	0.05858	0.734000	0.30879	0.076000	0.17211	-1.092000	0.03366	0.511000	0.28236	-0.345000	0.07892	TCT	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081853		0.597	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	41	0.00	0	C	NM_018915		140719182	140719182	+1	no_errors	ENST00000394576	ensembl	human	known	69_37n	missense	33	19.05	8	SNP	0.000	A
PCDHGA3	56112	genome.wustl.edu	37	5	140723819	140723819	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:140723819G>T	ENST00000253812.6	+	1	219	c.219G>T	c.(217-219)caG>caT	p.Q73H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q73H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGACGCAGCTTTTCTCTC	0.592											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	prostate(1)											64.0	75.0	71.0					5																	140723819		2175	4290	6465	-	-	-	SO:0001583	missense	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.219G>T	5.37:g.140723819G>T	ENSP00000253812:p.Gln73His	1658	Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q73H	ENST00000253812.6	37	c.219	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	9.426	1.084200	0.20309	.	.	ENSG00000254245	ENST00000253812	T	0.31769	1.48	5.65	2.92	0.33932	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.761271	0.10217	U	0.701338	T	0.54255	0.1847	M	0.88450	2.955	0.23101	N	0.998296	P;B	0.35411	0.5;0.362	B;P	0.51945	0.323;0.685	T	0.50591	-0.8810	10	0.59425	D	0.04	.	6.0419	0.19738	0.2051:0.0:0.6621:0.1329	.	73;73	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	73	ENSP00000253812:Q73H	ENSP00000253812:Q73H	Q	+	3	2	PCDHGA3	140704003	0.000000	0.05858	0.999000	0.59377	0.026000	0.11368	-0.439000	0.06897	0.420000	0.25954	0.655000	0.94253	CAG	PCDHGA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254245		0.592	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	36	0.00	0	G	NM_018916		140723819	140723819	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	0.990	T
PCDHGA8	9708	genome.wustl.edu	37	5	140772611	140772611	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:140772611G>A	ENST00000398604.2	+	1	231	c.231G>A	c.(229-231)ctG>ctA	p.L77L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTGCTCTGAACCCGCGCA	0.602																																						dbGAP											0													38.0	47.0	44.0					5																	140772611		2190	4297	6487	-	-	-	SO:0001819	synonymous_variant	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.231G>A	5.37:g.140772611G>A			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L77	ENST00000398604.2	37	c.231	CCDS47291.1	5																																																																																			PCDHGA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253767		0.602	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	28	0.00	0	G	NM_032088		140772611	140772611	+1	no_errors	ENST00000398604	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	0.971	A
PCLO	27445	genome.wustl.edu	37	7	82579161	82579161	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:82579161C>T	ENST00000333891.9	-	6	11080	c.10743G>A	c.(10741-10743)ctG>ctA	p.L3581L	PCLO_ENST00000437081.1_Silent_p.L301L|PCLO_ENST00000423517.2_Silent_p.L3581L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTGGCACTCAGATATTGAG	0.438																																						dbGAP											0													166.0	163.0	164.0					7																	82579161		2070	4208	6278	-	-	-	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10743G>A	7.37:g.82579161C>T				Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.L3581	ENST00000333891.9	37	c.10743	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	140	0.00	0	C	NM_014510		82579161	82579161	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	silent	146	15.03	26	SNP	0.951	T
PCLO	27445	genome.wustl.edu	37	7	82785412	82785412	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:82785412G>A	ENST00000333891.9	-	2	882	c.545C>T	c.(544-546)tCt>tTt	p.S182F	PCLO_ENST00000423517.2_Missense_Mutation_p.S182F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGATGCCTCAGAGTCTGATAT	0.408																																						dbGAP											0													96.0	94.0	94.0					7																	82785412		1865	4095	5960	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.545C>T	7.37:g.82785412G>A	ENSP00000334319:p.Ser182Phe			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S182F	ENST00000333891.9	37	c.545	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383854	0.42308	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.26957	1.7;1.71	5.63	5.63	0.86233	.	.	.	.	.	T	0.33147	0.0853	L	0.27053	0.805	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.52957	0.714;0.714	T	0.06144	-1.0843	9	0.87932	D	0	.	19.6936	0.96012	0.0:0.0:1.0:0.0	.	182;182	Q9Y6V0-5;Q9Y6V0-6	.;.	F	182	ENSP00000334319:S182F;ENSP00000388393:S182F	ENSP00000334319:S182F	S	-	2	0	PCLO	82623348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.275000	0.65575	2.665000	0.90641	0.655000	0.94253	TCT	PCLO	-	NULL	ENSG00000186472		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	127	0.00	0	G	NM_014510		82785412	82785412	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	124	22.01	35	SNP	1.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233136146	233136146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:233136146C>A	ENST00000258229.9	-	30	5467	c.5233G>T	c.(5233-5235)Gag>Tag	p.E1745*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.E397*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1745						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGAGCAGCTCTTCCTTGTTG	0.602																																						dbGAP											0													100.0	102.0	101.0					1																	233136146		2085	4207	6292	-	-	-	SO:0001587	stop_gained	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5233G>T	1.37:g.233136146C>A	ENSP00000258229:p.Glu1745*		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.E1745*	ENST00000258229.9	37	c.5233	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	49	15.675157	0.99841	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	.	.	.	5.67	5.67	0.87782	.	0.092499	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	X	397;1745	.	ENSP00000258229:E1745X	E	-	1	0	PCNXL2	231202769	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.422000	0.59854	2.837000	0.97791	0.655000	0.94253	GAG	PCNXL2	-	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000135749		0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	31	0.00	0	C	NM_014801		233136146	233136146	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	nonsense	32	15.79	6	SNP	1.000	A
PDE8B	8622	genome.wustl.edu	37	5	76649195	76649195	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:76649195C>G	ENST00000264917.5	+	10	1176	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	PDE8B_ENST00000342343.4_Silent_p.L357L|PDE8B_ENST00000340978.3_Silent_p.L330L|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Silent_p.L377L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	377					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TTGTCTCGCTCAAGAAACTGT	0.373																																						dbGAP											0													208.0	184.0	192.0					5																	76649195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1131C>G	5.37:g.76649195C>G			Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,prints_PDEase,pfscan_PAS,tigrfam_PAS	p.L377	ENST00000264917.5	37	c.1131	CCDS4037.1	5																																																																																			PDE8B	-	NULL	ENSG00000113231		0.373	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	113	0.00	0	C	NM_003719		76649195	76649195	+1	no_errors	ENST00000264917	ensembl	human	known	69_37n	silent	84	21.50	23	SNP	1.000	G
PDE6A	5145	genome.wustl.edu	37	5	149276340	149276340	+	Splice_Site	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:149276340C>T	ENST00000255266.5	-	11	1527		c.e11-1			NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha						cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTCTGGTTTTCTGCCAGGACC	0.527																																						dbGAP											0													122.0	119.0	120.0					5																	149276340		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1408-1G>A	5.37:g.149276340C>T			Q0P638	Splice_Site	SNP	-	e11-1	ENST00000255266.5	37	c.1408-1	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620217	0.87460	.	.	ENSG00000132915	ENST00000255266	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7638	0.88471	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE6A	149256533	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.094000	0.76944	2.804000	0.96469	0.655000	0.94253	.	PDE6A	-	-	ENSG00000132915		0.527	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	69	0.00	0	C		Intron	149276340	149276340	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	splice_site	30	31.11	14	SNP	1.000	T
PDGFRA	5156	genome.wustl.edu	37	4	55141020	55141020	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:55141020G>A	ENST00000257290.5	+	12	1997	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	556					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E556K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ACCGAGGTATGAAATTCGCTG	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	dbGAP		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	bone(1)											74.0	78.0	76.0					4																	55141020		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1666G>A	4.37:g.55141020G>A	ENSP00000257290:p.Glu556Lys		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.E556K	ENST00000257290.5	37	c.1666	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.498304	0.96355	.	.	ENSG00000134853	ENST00000257290	D	0.95788	-3.81	5.87	5.87	0.94306	Protein kinase-like domain (1);	0.000000	0.33005	U	0.005396	D	0.98346	0.9451	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	D	0.98750	1.0720	10	0.87932	D	0	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	556;556	P16234-3;P16234	.;PGFRA_HUMAN	K	556	ENSP00000257290:E556K	ENSP00000257290:E556K	E	+	1	0	PDGFRA	54835777	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.919000	0.87513	2.785000	0.95823	0.655000	0.94253	GAA	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	ENSG00000134853		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	45	0.00	0	G	NM_006206		55141020	55141020	+1	no_errors	ENST00000257290	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	A
PDPK1	5170	genome.wustl.edu	37	16	2636750	2636750	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:2636750C>A	ENST00000342085.4	+	11	1348	c.1199C>A	c.(1198-1200)tCc>tAc	p.S400Y	PDPK1_ENST00000268673.7_Missense_Mutation_p.S273Y|PDPK1_ENST00000389224.3_Missense_Mutation_p.S373Y|PDPK1_ENST00000441549.3_Missense_Mutation_p.S400Y|PDPK1_ENST00000354836.5_Missense_Mutation_p.S376Y	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	400					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CTGTCAGCCTCCGACACGGGC	0.527																																						dbGAP											0													117.0	105.0	109.0					16																	2636750		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1199C>A	16.37:g.2636750C>A	ENSP00000344220:p.Ser400Tyr		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S400Y	ENST00000342085.4	37	c.1199	CCDS10472.1	16	.	.	.	.	.	.	.	.	.	.	C	3.580	-0.085848	0.07097	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.64260	1.77;1.78;-0.09;1.77	5.05	-1.5	0.08691	.	1.458410	0.03737	N	0.254374	T	0.55955	0.1953	L	0.46157	1.445	0.09310	N	1	B;B;B	0.25521	0.128;0.014;0.072	B;B;B	0.23150	0.034;0.011;0.044	T	0.50250	-0.8850	10	0.59425	D	0.04	8.3834	9.8739	0.41191	0.0:0.4:0.0:0.6	.	438;273;400	Q59EH6;O15530-4;O15530	.;.;PDPK1_HUMAN	Y	400;438;273;376;373	ENSP00000344220:S400Y;ENSP00000268673:S273Y;ENSP00000346895:S376Y;ENSP00000373876:S373Y	ENSP00000268673:S273Y	S	+	2	0	PDPK1	2576751	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.136000	0.15974	-0.399000	0.07668	-0.140000	0.14226	TCC	PDPK1	-	NULL	ENSG00000140992		0.527	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	73	0.00	0	C			2636750	2636750	+1	no_errors	ENST00000342085	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.000	A
PDS5A	23244	genome.wustl.edu	37	4	39915337	39915337	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:39915337C>T	ENST00000303538.8	-	9	1425	c.886G>A	c.(886-888)Gga>Aga	p.G296R	PDS5A_ENST00000503396.1_Missense_Mutation_p.G296R	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGCTCTTCTCCATCATTGCTC	0.368																																						dbGAP											0													94.0	90.0	91.0					4																	39915337		1849	4085	5934	-	-	-	SO:0001583	missense	0			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.886G>A	4.37:g.39915337C>T	ENSP00000303427:p.Gly296Arg			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G296R	ENST00000303538.8	37	c.886	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394931	0.42512	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.67345	-0.12;-0.26	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	L	0.36672	1.1	0.80722	D	1	B;B	0.29646	0.169;0.253	B;B	0.39258	0.142;0.295	T	0.58885	-0.7557	9	.	.	.	-14.8286	19.4761	0.94989	0.0:1.0:0.0:0.0	.	296;296	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	R	296	ENSP00000303427:G296R;ENSP00000426749:G296R	.	G	-	1	0	PDS5A	39591732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.330000	0.52068	2.608000	0.88229	0.585000	0.79938	GGA	PDS5A	-	superfamily_ARM-type_fold	ENSG00000121892		0.368	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	26	0.00	0	C	NM_015200		39915337	39915337	-1	no_errors	ENST00000303538	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32048704	32048704	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:32048704G>A	ENST00000438447.1	+	8	1967	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D527N			O15018	PDZD2_HUMAN	PDZ domain containing 2	527					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCGGAATGGGGACCCCCGGAT	0.557																																						dbGAP											0													56.0	59.0	58.0					5																	32048704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1579G>A	5.37:g.32048704G>A	ENSP00000402033:p.Asp527Asn		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D527N	ENST00000438447.1	37	c.1579	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.147190	0.94603	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.07908	3.15;3.15	5.41	5.41	0.78517	.	0.000000	0.48286	D	0.000196	T	0.20088	0.0483	L	0.32530	0.975	0.50313	D	0.999868	P;D	0.89917	0.894;1.0	P;D	0.76071	0.459;0.987	T	0.00361	-1.1789	10	0.49607	T	0.09	.	17.0601	0.86544	0.0:0.0:1.0:0.0	.	353;527	B4E3P2;O15018	.;PDZD2_HUMAN	N	527	ENSP00000402033:D527N;ENSP00000282493:D527N	ENSP00000282493:D527N	D	+	1	0	PDZD2	32084461	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	4.888000	0.63164	2.709000	0.92574	0.655000	0.94253	GAC	PDZD2	-	NULL	ENSG00000133401		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	36	0.00	0	G			32048704	32048704	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.999	A
PGM2	55276	genome.wustl.edu	37	4	37846059	37846059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:37846059C>A	ENST00000381967.4	+	7	894	c.794C>A	c.(793-795)tCa>tAa	p.S265*	PGM2_ENST00000544359.1_Nonsense_Mutation_p.S126*|PGM2_ENST00000537241.1_Nonsense_Mutation_p.S105*	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	265					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTGTGCAGTCAGCTTTCAAG	0.483																																						dbGAP											0													193.0	178.0	183.0					4																	37846059		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.794C>A	4.37:g.37846059C>A	ENSP00000371393:p.Ser265*		B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.S265*	ENST00000381967.4	37	c.794	CCDS3443.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.851698	0.97023	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	.	.	.	5.96	2.29	0.28610	.	0.386896	0.30142	N	0.010313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-3.0588	7.3328	0.26592	0.0:0.6224:0.119:0.2587	.	.	.	.	X	265;126;105	.	ENSP00000371393:S265X	S	+	2	0	PGM2	37522454	0.946000	0.32159	0.791000	0.31998	0.558000	0.35554	2.182000	0.42556	0.400000	0.25396	0.655000	0.94253	TCA	PGM2	-	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	ENSG00000169299		0.483	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	120	0.00	0	C	NM_018290		37846059	37846059	+1	no_errors	ENST00000381967	ensembl	human	known	69_37n	nonsense	85	10.53	10	SNP	0.888	A
PGM3	5238	genome.wustl.edu	37	6	83898385	83898385	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:83898385C>G	ENST00000283977.4	-	2	220	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	PGM3_ENST00000506587.1_Missense_Mutation_p.E141Q|PGM3_ENST00000512866.1_Missense_Mutation_p.E113Q|PGM3_ENST00000513973.1_Missense_Mutation_p.E113Q					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TTCACAGCTTCTTTCTCGCTG	0.423																																						dbGAP											0													159.0	133.0	142.0					6																	83898385		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.94G>C	6.37:g.83898385C>G	ENSP00000283977:p.Glu32Gln			Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM	p.E113Q	ENST00000283977.4	37	c.337		6	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749892	0.30955	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554;ENST00000508748	T;T;T;T	0.46063	0.89;0.88;0.89;0.88	5.82	5.82	0.92795	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.135005	0.64402	D	0.000003	T	0.28101	0.0693	L	0.49513	1.565	0.58432	D	0.999992	B;B;P	0.40619	0.147;0.01;0.724	B;B;B	0.39617	0.071;0.016;0.305	T	0.05971	-1.0853	10	0.15066	T	0.55	-39.3251	20.0851	0.97797	0.0:1.0:0.0:0.0	.	141;141;113	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	Q	113;113;32;141;32;113;141	ENSP00000424874:E113Q;ENSP00000421565:E113Q;ENSP00000283977:E32Q;ENSP00000425809:E141Q	ENSP00000283977:E32Q	E	-	1	0	PGM3	83955104	1.000000	0.71417	0.050000	0.19076	0.038000	0.13279	7.487000	0.81328	2.758000	0.94735	0.650000	0.86243	GAA	PGM3	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM	ENSG00000013375		0.423	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	PGM3	HGNC	protein_coding	OTTHUMT00000366385.2	72	0.00	0	C	NM_015599		83898385	83898385	-1	no_errors	ENST00000513973	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.998	G
PHC3	80012	genome.wustl.edu	37	3	169815093	169815093	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:169815093G>C	ENST00000494943.1	-	15	2945	c.2877C>G	c.(2875-2877)ctC>ctG	p.L959L	PHC3_ENST00000495893.2_Silent_p.L971L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	959	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTGCACTCATGAGATGGTCTT	0.468																																						dbGAP											0													236.0	233.0	234.0					3																	169815093		2066	4245	6311	-	-	-	SO:0001819	synonymous_variant	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2877C>G	3.37:g.169815093G>C			A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S137*	ENST00000494943.1	37	c.410		3	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781159	0.16120	.	.	ENSG00000173889	ENST00000484068	.	.	.	5.68	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3349	4.2404	0.10645	0.3633:0.0:0.4643:0.1724	.	.	.	.	X	137	.	.	S	-	2	0	PHC3	171297787	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.668000	0.25127	0.637000	0.30526	0.591000	0.81541	TCA	PHC3	-	pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000173889		0.468	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	77	0.00	0	G	NM_024947		169815093	169815093	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000484068	ensembl	human	known	69_37n	nonsense	79	12.90	12	SNP	0.998	C
PHLPP1	23239	genome.wustl.edu	37	18	60384485	60384485	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:60384485C>G	ENST00000262719.5	+	1	1803	c.1569C>G	c.(1567-1569)ttC>ttG	p.F523L	PHLPP1_ENST00000400316.4_Missense_Mutation_p.F11L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	523					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TCATCCGCTTCTATGCAGGTA	0.537																																						dbGAP											0													74.0	85.0	81.0					18																	60384485		2017	4172	6189	-	-	-	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1569C>G	18.37:g.60384485C>G	ENSP00000262719:p.Phe523Leu		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.F523L	ENST00000262719.5	37	c.1569	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785243	0.49997	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.34859	1.36;1.34	3.91	2.97	0.34412	.	.	.	.	.	T	0.31606	0.0802	L	0.49778	1.585	0.40374	D	0.979373	B	0.19200	0.034	B	0.14023	0.01	T	0.16897	-1.0387	9	0.66056	D	0.02	-15.5431	9.6463	0.39870	0.0:0.8851:0.0:0.1149	.	523	O60346	PHLP1_HUMAN	L	11;523	ENSP00000383170:F11L;ENSP00000262719:F523L	ENSP00000262719:F523L	F	+	3	2	PHLPP1	58535465	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.239000	0.32719	0.774000	0.33427	-0.378000	0.06908	TTC	PHLPP1	-	NULL	ENSG00000081913		0.537	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	64	0.00	0	C	NM_194449		60384485	60384485	+1	no_errors	ENST00000262719	ensembl	human	known	69_37n	missense	17	43.75	14	SNP	1.000	G
PI4K2B	55300	genome.wustl.edu	37	4	25258265	25258265	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:25258265G>A	ENST00000264864.6	+	4	914	c.725G>A	c.(724-726)aGa>aAa	p.R242K	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R146K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	242	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AAAGTGGGTAGAAAGTTTCAT	0.423																																						dbGAP											0													107.0	110.0	109.0					4																	25258265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.725G>A	4.37:g.25258265G>A	ENSP00000264864:p.Arg242Lys		Q9NUW2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.R242K	ENST00000264864.6	37	c.725	CCDS3433.1	4	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596335	0.46318	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T	0.41065	1.01	6.07	5.07	0.68467	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.085544	0.85682	D	0.000000	T	0.31389	0.0795	L	0.39085	1.19	0.50632	D	0.999887	B	0.11235	0.004	B	0.16289	0.015	T	0.05869	-1.0859	10	0.23891	T	0.37	-22.3171	10.8091	0.46535	0.1364:0.0:0.8636:0.0	.	242	Q8TCG2	P4K2B_HUMAN	K	146;242;211	ENSP00000264864:R242K	ENSP00000264864:R242K	R	+	2	0	PI4K2B	24867363	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.293000	0.59037	2.885000	0.99019	0.655000	0.94253	AGA	PI4K2B	-	pfam_PI3/4_kinase_cat_dom	ENSG00000038210		0.423	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2B	HGNC	protein_coding	OTTHUMT00000250415.1	46	0.00	0	G	NM_018323		25258265	25258265	+1	no_errors	ENST00000264864	ensembl	human	known	69_37n	missense	58	24.36	19	SNP	1.000	A
PI4KAP1	728233	genome.wustl.edu	37	22	20385170	20385170	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:20385170C>T	ENST00000430523.3	-	0	2111					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												GCCTCGCGCTCAGTCATGTTG	0.627																																						dbGAP											0																																										-	-	-			0					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20385170C>T				RNA	SNP	-	NULL	ENST00000430523.3	37	NULL		22																																																																																			PI4KAP1	-	-	ENSG00000215513		0.627	PI4KAP1-005	KNOWN	basic	processed_transcript	PI4KAP1	HGNC	pseudogene	OTTHUMT00000319534.5	118	0.00	0	C			20385170	20385170	-1	no_errors	ENST00000430523	ensembl	human	known	69_37n	rna	61	29.07	25	SNP	1.000	T
PI4KB	5298	genome.wustl.edu	37	1	151266585	151266585	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:151266585G>T	ENST00000368873.1	-	11	2346	c.2178C>A	c.(2176-2178)ttC>ttA	p.F726L	PI4KB_ENST00000368872.1_Missense_Mutation_p.F711L|PI4KB_ENST00000368874.4_Missense_Mutation_p.F711L|PI4KB_ENST00000271657.5_Missense_Mutation_p.F738L|PI4KB_ENST00000368875.2_Missense_Mutation_p.F738L|PI4KB_ENST00000529142.1_Missense_Mutation_p.F394L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	726	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TATAGTAGTTGAACATGTCGC	0.567																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											0													118.0	97.0	104.0					1																	151266585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2178C>A	1.37:g.151266585G>T	ENSP00000357867:p.Phe726Leu		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Nonsense_Mutation	SNP	superfamily_Kinase-like_dom	p.S32*	ENST00000368873.1	37	c.95		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.784896|4.784896	0.90282|0.90282	.|.	.|.	ENSG00000143393|ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060;ENST00000489889|ENST00000446339	T;T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	5.52|5.52	4.54|4.54	0.55810|0.55810	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75170|.	0.3813|.	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.975;0.998;0.997|.	P;D;D|.	0.69142|.	0.897;0.962;0.949|.	T|.	0.78237|.	-0.2282|.	10|.	0.87932|.	D|.	0|.	-19.7568|-19.7568	11.1084|11.1084	0.48216|0.48216	0.0951:0.0:0.9049:0.0|0.0951:0.0:0.9049:0.0	.|.	726;711;394|.	Q9UBF8;Q9UBF8-2;Q9UBF8-3|.	PI4KB_HUMAN;.;.|.	L|X	711;738;738;726;394;711;116;130|32	ENSP00000357868:F711L;ENSP00000357869:F738L;ENSP00000271657:F738L;ENSP00000357867:F726L;ENSP00000433149:F394L;ENSP00000357866:F711L;ENSP00000410974:F116L;ENSP00000432426:F130L|.	ENSP00000271657:F738L|.	F|S	-|-	3|2	2|0	PI4KB|PI4KB	149533209|149533209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.893000|2.893000	0.48633|0.48633	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TTC|TCA	PI4KB	-	superfamily_Kinase-like_dom	ENSG00000143393		0.567	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	59	0.00	0	G	NM_002651		151266585	151266585	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446339	ensembl	human	putative	69_37n	nonsense	45	16.67	9	SNP	1.000	T
SLC25A22	79751	genome.wustl.edu	37	11	800427	800427	+	5'Flank	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:800427C>G	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.R689T|PIDD_ENST00000411829.2_Missense_Mutation_p.R689T|PIDD_ENST00000534649.1_5'Flank	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGCAGATTCTGCCCTCCAC	0.637																																					Colon(93;848 1468 3270 23355 49636)	dbGAP											0													72.0	65.0	67.0					11																	800427		2202	4297	6499	-	-	-	SO:0001631	upstream_gene_variant	0			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800427C>G	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.R689T	ENST00000531214.1	37	c.2066	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921433	0.73213	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.47869	0.83;0.89	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.29908	0.895	0.35044	D	0.759974	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.74348	0.983;0.942;0.943;0.964	T	0.64888	-0.6301	10	0.66056	D	0.02	.	9.8422	0.41006	0.0:0.9048:0.0:0.0952	.	400;689;532;689	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	T	689	ENSP00000416801:R689T;ENSP00000337797:R689T	ENSP00000337797:R689T	R	-	2	0	PIDD	790427	1.000000	0.71417	0.829000	0.32907	0.823000	0.46562	5.588000	0.67517	2.016000	0.59253	0.462000	0.41574	AGA	PIDD	-	NULL	ENSG00000177595		0.637	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000384124.1	29	0.00	0	C			800427	800427	-1	no_errors	ENST00000347755	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.800	G
PIEZO2	63895	genome.wustl.edu	37	18	10807218	10807218	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:10807218G>A	ENST00000503781.3	-	8	971	c.972C>T	c.(970-972)atC>atT	p.I324I	PIEZO2_ENST00000580640.1_Silent_p.I324I|PIEZO2_ENST00000302079.6_Silent_p.I324I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	324					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GGTTCACTATGATCTTCCAAG	0.443																																						dbGAP											0													159.0	153.0	155.0					18																	10807218		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.972C>T	18.37:g.10807218G>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.H47Y	ENST00000503781.3	37	c.139		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.443	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	59	0.00	0	G	NM_022068		10807218	10807218	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000579112	ensembl	human	novel	69_37n	missense	48	23.44	15	SNP	0.999	A
PIGG	54872	genome.wustl.edu	37	4	524392	524392	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:524392G>A	ENST00000453061.2	+	11	2535	c.2429G>A	c.(2428-2430)aGa>aAa	p.R810K	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.R677K|PIGG_ENST00000310340.5_Missense_Mutation_p.R802K|PIGG_ENST00000504346.1_Missense_Mutation_p.R721K	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	810					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTGCTCTTTAGACCACATAAT	0.408																																						dbGAP											0													252.0	242.0	245.0					4																	524392		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2429G>A	4.37:g.524392G>A	ENSP00000415203:p.Arg810Lys		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R810K	ENST00000453061.2	37	c.2429	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927391	0.73327	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.14266	2.85;2.86;2.53;2.52	5.62	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.65320	2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.994;0.998	T	0.12293	-1.0553	10	0.09590	T	0.72	-25.4898	12.842	0.57809	0.0797:0.0:0.9203:0.0	.	677;810;802	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	K	802;810;721;677	ENSP00000311750:R802K;ENSP00000415203:R810K;ENSP00000424800:R721K;ENSP00000372494:R677K	ENSP00000311750:R802K	R	+	2	0	PIGG	514392	0.998000	0.40836	0.038000	0.18304	0.944000	0.59088	8.862000	0.92283	1.509000	0.48786	0.655000	0.94253	AGA	PIGG	-	NULL	ENSG00000174227		0.408	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	136	0.00	0	G	NM_017733		524392	524392	+1	no_errors	ENST00000453061	ensembl	human	known	69_37n	missense	111	16.54	22	SNP	0.522	A
PIGR	5284	genome.wustl.edu	37	1	207112715	207112715	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:207112715G>A	ENST00000356495.4	-	3	320	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	46	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGGTTGACAGAGGTGGGTGG	0.567																																						dbGAP											0													82.0	83.0	83.0					1																	207112715		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.137C>T	1.37:g.207112715G>A	ENSP00000348888:p.Ser46Phe		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S46F	ENST00000356495.4	37	c.137	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525918	0.85600	.	.	ENSG00000162896	ENST00000356495	T	0.69685	-0.42	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.087950	0.50627	D	0.000112	D	0.82944	0.5147	M	0.82923	2.615	0.41589	D	0.988787	D	0.89917	1.0	D	0.97110	1.0	D	0.83639	0.0149	10	0.46703	T	0.11	-6.8716	16.7998	0.85611	0.0:0.0:1.0:0.0	.	46	P01833	PIGR_HUMAN	F	46	ENSP00000348888:S46F	ENSP00000348888:S46F	S	-	2	0	PIGR	205179338	0.866000	0.29940	1.000000	0.80357	0.999000	0.98932	1.216000	0.32443	2.720000	0.93068	0.655000	0.94253	TCT	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000162896		0.567	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	57	0.00	0	G	NM_002644		207112715	207112715	-1	no_errors	ENST00000356495	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	0.998	A
PIGS	94005	genome.wustl.edu	37	17	26888531	26888531	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:26888531C>G	ENST00000308360.7	-	6	960	c.585G>C	c.(583-585)ttG>ttC	p.L195F	PIGS_ENST00000543734.1_Missense_Mutation_p.L134F|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.L187F	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	195					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CATCCTCAGTCAAAGACATGG	0.602																																						dbGAP											0													82.0	66.0	71.0					17																	26888531		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.585G>C	17.37:g.26888531C>G	ENSP00000309430:p.Leu195Phe		Q6UVX6	Missense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.L195F	ENST00000308360.7	37	c.585	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811429	0.32053	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.42900	0.96;0.96;0.96	5.68	4.66	0.58398	.	0.105878	0.64402	D	0.000004	T	0.25005	0.0607	N	0.16368	0.405	0.34452	D	0.700761	B;B	0.13145	0.007;0.005	B;B	0.12156	0.007;0.004	T	0.21999	-1.0229	10	0.29301	T	0.29	-13.9368	9.2392	0.37486	0.1313:0.624:0.2447:0.0	.	195;187	Q96S52;Q96S52-2	PIGS_HUMAN;.	F	187;195;134	ENSP00000378755:L187F;ENSP00000309430:L195F;ENSP00000438447:L134F	ENSP00000309430:L195F	L	-	3	2	PIGS	23912658	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.248000	0.51430	2.683000	0.91414	0.655000	0.94253	TTG	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.602	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3	38	0.00	0	C	NM_033198		26888531	26888531	-1	no_errors	ENST00000308360	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	44	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	1.000	G
PIP5K1A	8394	genome.wustl.edu	37	1	151210675	151210675	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:151210675C>T	ENST00000368888.4	+	10	1585	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.A375V|PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000414290.2_Missense_Mutation_p.A89V|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.A376V	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	388	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATCCCTGCCCGGAATAGT	0.443																																					Pancreas(80;36 1443 2325 16095 21302)	dbGAP											0													89.0	82.0	84.0					1																	151210675		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1163C>T	1.37:g.151210675C>T	ENSP00000357883:p.Ala388Val		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A388V	ENST00000368888.4	37	c.1163	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.299181	0.95574	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000368890;ENST00000368888;ENST00000414290	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.61	4.61	0.57282	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.049936	0.85682	D	0.000000	T	0.59702	0.2213	M	0.89414	3.03	0.80722	D	1	D;D;P;D	0.76494	0.999;0.971;0.767;0.997	D;P;P;P	0.74023	0.982;0.779;0.641;0.851	T	0.68318	-0.5440	10	0.66056	D	0.02	.	16.1678	0.81782	0.0:1.0:0.0:0.0	.	89;375;388;375	B4DY52;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	V	375;376;375;388;89	ENSP00000271663:A375V;ENSP00000386432:A376V;ENSP00000357885:A375V;ENSP00000357883:A388V;ENSP00000388800:A89V	ENSP00000271663:A375V	A	+	2	0	PIP5K1A	149477299	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.302000	0.78861	2.411000	0.81874	0.655000	0.94253	GCC	PIP5K1A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000143398		0.443	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	71	0.00	0	C	NM_003557		151210675	151210675	+1	no_errors	ENST00000368888	ensembl	human	known	69_37n	missense	76	28.30	30	SNP	1.000	T
PIR	8544	genome.wustl.edu	37	X	15403102	15403102	+	3'UTR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:15403102C>G	ENST00000380421.3	-	0	1357				PIR_ENST00000380420.5_3'UTR|FIGF_ENST00000297904.3_5'Flank	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)						monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TAGGACACATCAAGACCTGCT	0.403																																					Ovarian(180;1587 2015 10555 34192 51653)	dbGAP											0													125.0	101.0	109.0					X																	15403102		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.*24G>C	X.37:g.15403102C>G			Q5U0G0|Q6FHD2	RNA	SNP	-	NULL	ENST00000380421.3	37	NULL	CCDS14167.1	X																																																																																			PIR	-	-	ENSG00000087842		0.403	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	153	0.00	0	C	NM_003662		15403102	15403102	-1	no_errors	ENST00000492432	ensembl	human	known	69_37n	rna	72	12.05	10	SNP	0.000	G
PIWIL1	9271	genome.wustl.edu	37	12	130834474	130834474	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:130834474G>A	ENST00000245255.3	+	9	1278	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	336	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAGAAAGCCGACGGCTCTGA	0.413																																						dbGAP											0													85.0	87.0	87.0					12																	130834474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1006G>A	12.37:g.130834474G>A	ENSP00000245255:p.Asp336Asn		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.D336N	ENST00000245255.3	37	c.1006	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990138	0.74589	.	.	ENSG00000125207	ENST00000245255	T	0.14766	2.48	5.42	5.42	0.78866	Argonaute/Dicer protein, PAZ (4);	0.093312	0.64402	D	0.000001	T	0.32194	0.0821	L	0.52759	1.655	0.80722	D	1	D;P	0.71674	0.998;0.818	D;P	0.68192	0.956;0.472	T	0.00346	-1.1800	10	0.38643	T	0.18	-9.5999	18.5715	0.91137	0.0:0.0:1.0:0.0	.	336;336	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	336	ENSP00000245255:D336N	ENSP00000245255:D336N	D	+	1	0	PIWIL1	129400427	1.000000	0.71417	0.211000	0.23655	0.195000	0.23768	9.125000	0.94402	2.684000	0.91462	0.563000	0.77884	GAC	PIWIL1	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000125207		0.413	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	36	0.00	0	G			130834474	130834474	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	0.999	A
PIWIL3	440822	genome.wustl.edu	37	22	25124145	25124146	+	Splice_Site	DNP	TC	TC	AG			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:25124145_25124146TC>AG	ENST00000332271.5	-	15	2346_2347	c.1930_1931GA>CT	c.(1930-1932)GAc>CTc	p.D644L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Splice_Site_p.D526L|PIWIL3_ENST00000527701.1_Splice_Site_p.D526L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	644	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACAACATACGTCTGTCTCCACC	0.401																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1930_1931delinsAG	22.37:g.25124145_25124146delinsAG				Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.D644V|p.D644H	ENST00000332271.5	37	c.1931|c.1930	CCDS33623.1	22																																																																																			PIWIL3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000184571		0.401	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	103|105	0.00	0	T|C	NM_001008496	Missense_Mutation	25124145|25124146	25124145|25124146	-1	no_errors	ENST00000332271	ensembl	human	known	69_37n	missense	86|89	21.62|21.24	24	SNP	0.001	A|G
PJA1	64219	genome.wustl.edu	37	X	68382501	68382501	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:68382501C>T	ENST00000361478.1	-	2	958	c.581G>A	c.(580-582)aGa>aAa	p.R194K	PJA1_ENST00000374571.4_Missense_Mutation_p.R139K|PJA1_ENST00000374583.1_Missense_Mutation_p.R194K|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	194					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GAAGTCAGCTCTGCTAGCTGA	0.537																																						dbGAP											0													64.0	40.0	48.0					X																	68382501		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.581G>A	X.37:g.68382501C>T	ENSP00000355014:p.Arg194Lys		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R194K	ENST00000361478.1	37	c.581	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	c	7.595	0.671552	0.14776	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.12569	2.67;2.67;2.67	3.35	2.47	0.30058	.	0.357463	0.20042	U	0.100489	T	0.09291	0.0229	L	0.44542	1.39	0.19300	N	0.999971	B	0.15930	0.015	B	0.09377	0.004	T	0.32241	-0.9914	10	0.17832	T	0.49	.	4.2957	0.10901	0.0:0.6327:0.2341:0.1332	.	194	Q8NG27	PJA1_HUMAN	K	109;194;194;139	ENSP00000363711:R194K;ENSP00000355014:R194K;ENSP00000363699:R139K	ENSP00000355014:R194K	R	-	2	0	PJA1	68299226	0.337000	0.24766	0.517000	0.27799	0.639000	0.38242	0.384000	0.20668	0.827000	0.34685	0.460000	0.39030	AGA	PJA1	-	NULL	ENSG00000181191		0.537	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	48	0.00	0	C	NM_145119		68382501	68382501	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	missense	12	35.00	7	SNP	0.675	T
PJA1	64219	genome.wustl.edu	37	X	68382697	68382697	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:68382697C>T	ENST00000361478.1	-	2	762	c.385G>A	c.(385-387)Gag>Aag	p.E129K	PJA1_ENST00000374571.4_Missense_Mutation_p.E74K|PJA1_ENST00000374583.1_Missense_Mutation_p.E129K|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	129					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CCAGCCCCCTCCTCCTCACTA	0.517																																						dbGAP											0													53.0	51.0	52.0					X																	68382697		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.385G>A	X.37:g.68382697C>T	ENSP00000355014:p.Glu129Lys		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E129K	ENST00000361478.1	37	c.385	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435810	0.62955	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.13538	2.58;2.58;2.58	3.11	2.24	0.28232	.	0.000000	0.47852	U	0.000212	T	0.28234	0.0697	L	0.61218	1.895	0.28276	N	0.924219	D	0.63880	0.993	D	0.68192	0.956	T	0.02639	-1.1130	10	0.87932	D	0	-11.262	7.9332	0.29914	0.0:0.8667:0.0:0.1333	.	129	Q8NG27	PJA1_HUMAN	K	74;129;129;74	ENSP00000363711:E129K;ENSP00000355014:E129K;ENSP00000363699:E74K	ENSP00000355014:E129K	E	-	1	0	PJA1	68299422	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.890000	0.63178	0.739000	0.32628	0.457000	0.33378	GAG	PJA1	-	NULL	ENSG00000181191		0.517	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	71	0.00	0	C	NM_145119		68382697	68382697	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	1.000	T
PJA1	64219	genome.wustl.edu	37	X	68382750	68382750	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:68382750C>G	ENST00000361478.1	-	2	709	c.332G>C	c.(331-333)aGa>aCa	p.R111T	PJA1_ENST00000374571.4_Missense_Mutation_p.R56T|PJA1_ENST00000374583.1_Missense_Mutation_p.R111T|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	111					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGCCATTCCTCTTCTGCTACC	0.527																																						dbGAP											0													81.0	74.0	76.0					X																	68382750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.332G>C	X.37:g.68382750C>G	ENSP00000355014:p.Arg111Thr		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R111T	ENST00000361478.1	37	c.332	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914002	0.52546	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14640	2.49;2.49;2.49	3.25	3.25	0.37280	.	0.431534	0.17930	U	0.157212	T	0.18593	0.0446	L	0.44542	1.39	0.24765	N	0.992905	D	0.58268	0.982	P	0.55087	0.768	T	0.04005	-1.0985	10	0.66056	D	0.02	-7.0678	5.7559	0.18172	0.0:0.8523:0.0:0.1477	.	111	Q8NG27	PJA1_HUMAN	T	56;111;111;56	ENSP00000363711:R111T;ENSP00000355014:R111T;ENSP00000363699:R56T	ENSP00000355014:R111T	R	-	2	0	PJA1	68299475	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.170000	0.42443	1.925000	0.55765	0.534000	0.68092	AGA	PJA1	-	NULL	ENSG00000181191		0.527	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	77	0.00	0	C	NM_145119		68382750	68382750	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	missense	46	20.69	12	SNP	1.000	G
PKHD1	5314	genome.wustl.edu	37	6	51921764	51921764	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:51921764G>C	ENST00000371117.3	-	17	1801	c.1526C>G	c.(1525-1527)tCa>tGa	p.S509*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S509*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	509					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCTCTGCCTGATACATTCAG	0.433																																						dbGAP											0													64.0	57.0	60.0					6																	51921764		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1526C>G	6.37:g.51921764G>C	ENSP00000360158:p.Ser509*		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S509*	ENST00000371117.3	37	c.1526	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.368034	0.98779	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.68	5.68	0.88126	.	0.230848	0.30667	N	0.009136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.5053	0.84270	0.0:0.0:1.0:0.0	.	.	.	.	X	509	.	ENSP00000341097:S509X	S	-	2	0	PKHD1	52029723	1.000000	0.71417	0.950000	0.38849	0.548000	0.35241	3.235000	0.51328	2.669000	0.90835	0.561000	0.74099	TCA	PKHD1	-	NULL	ENSG00000170927		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	48	0.00	0	G	NM_138694		51921764	51921764	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	nonsense	36	21.28	10	SNP	0.998	C
PKIG	11142	genome.wustl.edu	37	20	43243223	43243223	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:43243223C>T	ENST00000372889.1	+	5	611	c.26C>T	c.(25-27)tCg>tTg	p.S9L	PKIG_ENST00000349959.3_Missense_Mutation_p.S9L|PKIG_ENST00000372882.3_Missense_Mutation_p.S9L|PKIG_ENST00000372891.3_Missense_Mutation_p.S9L|PKIG_ENST00000372894.3_Missense_Mutation_p.S9L|PKIG_ENST00000372892.3_Missense_Mutation_p.S9L|PKIG_ENST00000477390.1_3'UTR|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372887.1_Missense_Mutation_p.S9L|PKIG_ENST00000372886.1_Missense_Mutation_p.S9L	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	9					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			TCCTCCTACTCGGACTTCATC	0.602																																						dbGAP											0													110.0	92.0	98.0					20																	43243223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.26C>T	20.37:g.43243223C>T	ENSP00000361980:p.Ser9Leu			Missense_Mutation	SNP	pfam_cAMP_dep_PKI	p.S9L	ENST00000372889.1	37	c.26	CCDS13334.1	20	.	.	.	.	.	.	.	.	.	.	c	22.7	4.325442	0.81580	.	.	ENSG00000168734	ENST00000372894;ENST00000372892;ENST00000372891;ENST00000372889;ENST00000372887;ENST00000372882;ENST00000372886;ENST00000349959	.	.	.	5.55	5.55	0.83447	.	0.171581	0.40302	N	0.001125	T	0.71762	0.3378	.	.	.	0.48632	D	0.999685	D	0.56746	0.977	P	0.51806	0.68	T	0.75611	-0.3258	8	0.87932	D	0	-3.2292	18.0832	0.89449	0.0:1.0:0.0:0.0	.	9	Q9Y2B9	IPKG_HUMAN	L	9	.	ENSP00000338067:S9L	S	+	2	0	PKIG	42676637	0.998000	0.40836	1.000000	0.80357	0.649000	0.38597	3.369000	0.52365	2.597000	0.87782	0.651000	0.88453	TCG	PKIG	-	pfam_cAMP_dep_PKI	ENSG00000168734		0.602	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PKIG	HGNC	protein_coding	OTTHUMT00000127804.1	24	0.00	0	C			43243223	43243223	+1	no_errors	ENST00000349959	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	1.000	T
PLBD2	196463	genome.wustl.edu	37	12	113818608	113818608	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:113818608C>T	ENST00000280800.3	+	6	949	c.918C>T	c.(916-918)atC>atT	p.I306I	PLBD2_ENST00000545182.2_Silent_p.I306I	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	306					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCGGCACCATCTTCTCCTGCG	0.612																																						dbGAP											0													98.0	65.0	76.0					12																	113818608		2189	4275	6464	-	-	-	SO:0001819	synonymous_variant	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.918C>T	12.37:g.113818608C>T			F5H5E2	Silent	SNP	pfam_PLipase_B-like	p.I306	ENST00000280800.3	37	c.918	CCDS9168.1	12																																																																																			PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	85	0.00	0	C	NM_173542		113818608	113818608	+1	no_errors	ENST00000280800	ensembl	human	known	69_37n	silent	51	25.00	17	SNP	1.000	T
PLCB1	23236	genome.wustl.edu	37	20	8713940	8713940	+	Nonsense_Mutation	SNP	C	C	A	rs200073364		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:8713940C>A	ENST00000338037.6	+	19	1971	c.1944C>A	c.(1942-1944)taC>taA	p.Y648*	PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Y648*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Nonsense_Mutation_p.Y648*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	648	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAGTGGCTACAGATTGAAGC	0.408																																						dbGAP											0													129.0	118.0	121.0					20																	8713940		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1944C>A	20.37:g.8713940C>A	ENSP00000338185:p.Tyr648*		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.Y648*	ENST00000338037.6	37	c.1944	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	40	8.143370	0.98675	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.13	2.0	0.26442	.	0.063724	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0485	0.53493	0.0:0.7315:0.0:0.2685	.	.	.	.	X	648;648;648;568;568	.	ENSP00000338185:Y648X	Y	+	3	2	PLCB1	8661940	1.000000	0.71417	0.980000	0.43619	0.127000	0.20565	1.279000	0.33191	0.257000	0.21650	-0.942000	0.02676	TAC	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000182621		0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	85	0.00	0	C			8713940	8713940	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	nonsense	40	18.37	9	SNP	1.000	A
PLCH1	23007	genome.wustl.edu	37	3	155301389	155301389	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:155301389C>G	ENST00000340059.7	-	5	606	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	PLCH1_ENST00000414191.1_Missense_Mutation_p.E185Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.E203Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.E185Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.E185Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.E203Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	203	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACACAGAACTCTTCAAATGTC	0.348																																						dbGAP											0													72.0	74.0	74.0					3																	155301389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.607G>C	3.37:g.155301389C>G	ENSP00000345988:p.Glu203Gln		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E203Q	ENST00000340059.7	37	c.607	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865088	0.91511	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.45	5.45	0.79879	EF-hand-like domain (1);	0.050844	0.85682	D	0.000000	D	0.95865	0.8654	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.994	D	0.95971	0.8970	10	0.44086	T	0.13	.	19.2951	0.94118	0.0:1.0:0.0:0.0	.	185;203;203	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	203;185;203;203;185;185	ENSP00000419100:E203Q;ENSP00000417502:E185Q;ENSP00000402759:E203Q;ENSP00000345988:E203Q;ENSP00000335469:E185Q;ENSP00000412977:E185Q	ENSP00000335469:E185Q	E	-	1	0	PLCH1	156784083	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.711000	0.84669	2.559000	0.86315	0.591000	0.81541	GAG	PLCH1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000114805		0.348	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	40	0.00	0	C	NM_014996		155301389	155301389	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	1.000	G
PLXND1	23129	genome.wustl.edu	37	3	129279238	129279238	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:129279238G>A	ENST00000324093.4	-	31	5246	c.5068C>T	c.(5068-5070)Cac>Tac	p.H1690Y	PLXND1_ENST00000393239.1_Missense_Mutation_p.H1690Y	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1690					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCTGCCGGTGAGACTTCTTG	0.667																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0													76.0	63.0	67.0					3																	129279238		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5068C>T	3.37:g.129279238G>A	ENSP00000317128:p.His1690Tyr		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.H1690Y	ENST00000324093.4	37	c.5068	CCDS33854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.150310|3.150310	0.57151|0.57151	.|.	.|.	ENSG00000004399|ENSG00000004399	ENST00000324093;ENST00000393239|ENST00000506979	T;T|T	0.11604|0.12039	2.76;2.76|2.72	5.0|5.0	4.1|4.1	0.47936|0.47936	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);|.	0.064020|.	0.64402|.	D|.	0.000010|.	T|T	0.28599|0.28599	0.0708|0.0708	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999998|0.999998	P;D|.	0.71674|.	0.699;0.998|.	B;D|.	0.68483|.	0.224;0.958|.	T|T	0.02610|0.02610	-1.1134|-1.1134	10|7	0.66056|0.87932	D|D	0.02|0	.|.	14.4626|14.4626	0.67462|0.67462	0.0:0.0:0.8517:0.1483|0.0:0.0:0.8517:0.1483	.|.	285;1690|.	B4DRU3;Q9Y4D7|.	.;PLXD1_HUMAN|.	Y|L	1690|33	ENSP00000317128:H1690Y;ENSP00000376931:H1690Y|ENSP00000427696:S33L	ENSP00000317128:H1690Y|ENSP00000427696:S33L	H|S	-|-	1|2	0|0	PLXND1|PLXND1	130761928|130761928	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.723000|0.723000	0.41478|0.41478	6.281000|6.281000	0.72632|0.72632	1.063000|1.063000	0.40649|0.40649	0.462000|0.462000	0.41574|0.41574	CAC|TCA	PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000004399		0.667	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	43	0.00	0	G	NM_015103		129279238	129279238	-1	no_errors	ENST00000324093	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.998	A
PLD1	5337	genome.wustl.edu	37	3	171360647	171360647	+	Missense_Mutation	SNP	C	C	T	rs186118100	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:171360647C>T	ENST00000351298.4	-	23	2702	c.2576G>A	c.(2575-2577)gGa>gAa	p.G859E	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.G859E|PLD1_ENST00000356327.5_Missense_Mutation_p.G821E	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	859	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTTTAACTGTCCAAGGATGGA	0.338													C|||	6	0.00119808	0.0	0.0	5008	,	,		16782	0.006		0.0	False		,,,				2504	0.0				NSCLC(149;2174 3517 34058)	dbGAP											0													107.0	108.0	108.0					3																	171360647		2202	4299	6501	-	-	-	SO:0001583	missense	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2576G>A	3.37:g.171360647C>T	ENSP00000342793:p.Gly859Glu			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.G859E	ENST00000351298.4	37	c.2576	CCDS3216.1	3	4|4	0.0018315018315018315|0.0018315018315018315	0|0	0.0|0.0	0|0	0.0|0.0	4|4	0.006993006993006993|0.006993006993006993	0|0	0.0|0.0	C|C	8.193|8.193	0.796518|0.796518	0.16327|0.16327	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	5.79|5.79	4.91|4.91	0.64330|0.64330	.|.	.|0.228496	.|0.45606	.|N	.|0.000349	T|T	0.07007|0.07007	0.0178|0.0178	N|N	0.01188|0.01188	-0.97|-0.97	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.15052	.|0.002;0.002;0.012	T|T	0.17961|0.17961	-1.0352|-1.0352	5|10	.|0.02654	.|T	.|1	-16.1212|-16.1212	12.9108|12.9108	0.58179|0.58179	0.0:0.9194:0.0:0.0806|0.0:0.9194:0.0:0.0806	.|.	.|859;844;859	.|Q13393-4;Q59EA4;Q13393	.|.;.;PLD1_HUMAN	N|E	122|821;859;859	.|ENSP00000348681:G821E;ENSP00000342793:G859E;ENSP00000340326:G859E	.|ENSP00000340326:G859E	D|G	-|-	1|2	0|0	PLD1|PLD1	172843341|172843341	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.197000|2.197000	0.42696|0.42696	1.426000|1.426000	0.47256|0.47256	0.563000|0.563000	0.77884|0.77884	GAC|GGA	PLD1	-	pirsf_PLipase_D_euk	ENSG00000075651		0.338	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	65	0.00	0	C	NM_002662		171360647	171360647	-1	no_errors	ENST00000351298	ensembl	human	known	69_37n	missense	55	26.67	20	SNP	1.000	T
PM20D1	148811	genome.wustl.edu	37	1	205813966	205813966	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:205813966G>C	ENST00000367136.4	-	4	593	c.549C>G	c.(547-549)ttC>ttG	p.F183L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	183					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAGAAATGAAGAAAGATCTTC	0.507																																						dbGAP											0													91.0	87.0	88.0					1																	205813966		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.549C>G	1.37:g.205813966G>C	ENSP00000356104:p.Phe183Leu		Q6P4E3|Q96DM4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.F183L	ENST00000367136.4	37	c.549	CCDS1460.1	1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410269	0.42715	.	.	ENSG00000162877	ENST00000367136	T	0.39592	1.07	5.8	5.8	0.92144	.	0.043412	0.85682	D	0.000000	T	0.33990	0.0882	L	0.28054	0.825	0.52501	D	0.99995	B	0.18741	0.03	B	0.23716	0.048	T	0.12066	-1.0562	10	0.13470	T	0.59	.	19.6488	0.95793	0.0:0.0:1.0:0.0	.	183	Q6GTS8	P20D1_HUMAN	L	183	ENSP00000356104:F183L	ENSP00000356104:F183L	F	-	3	2	PM20D1	204080589	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.269000	0.43346	2.758000	0.94735	0.561000	0.74099	TTC	PM20D1	-	pfam_Peptidase_M20	ENSG00000162877		0.507	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	HGNC	protein_coding	OTTHUMT00000087736.1	26	0.00	0	G	NM_152491		205813966	205813966	-1	no_errors	ENST00000367136	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	C
PMS2	5395	genome.wustl.edu	37	7	6026983	6026983	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:6026983C>T	ENST00000265849.7	-	11	1518	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	PMS2_ENST00000441476.2_Silent_p.Q365Q|PMS2_ENST00000406569.3_Silent_p.Q471Q|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	471					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGCCTCTTTCTGAGGTCTCA	0.567			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													103.0	100.0	101.0					7																	6026983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1413G>A	7.37:g.6026983C>T			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.Q471	ENST00000265849.7	37	c.1413	CCDS5343.1	7																																																																																			PMS2	-	NULL	ENSG00000122512		0.567	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	54	0.00	0	C	NM_000535		6026983	6026983	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	silent	40	21.57	11	SNP	0.001	T
PNPT1	87178	genome.wustl.edu	37	2	55900055	55900055	+	Missense_Mutation	SNP	G	G	A	rs143022417		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:55900055G>A	ENST00000447944.2	-	9	925	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	280					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATCTCTGGCGAAGGGGTAAA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		18946	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													145.0	148.0	147.0					2																	55900055		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.839C>T	2.37:g.55900055G>A	ENSP00000400646:p.Ser280Leu		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.S280L	ENST00000447944.2	37	c.839	CCDS1856.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.182	1.023897	0.19433	.	.	ENSG00000138035	ENST00000447944	T	0.58358	0.34	5.77	3.02	0.34903	Polynucleotide phosphorylase, phosphorolytic RNA-binding, bacterial/organelle-type (2);	0.273133	0.35349	N	0.003266	T	0.33177	0.0854	N	0.08118	0	0.25690	N	0.985694	B	0.15930	0.015	B	0.10450	0.005	T	0.17531	-1.0366	10	0.45353	T	0.12	-0.1176	14.2742	0.66170	0.1816:0.0:0.8184:0.0	.	280	Q8TCS8	PNPT1_HUMAN	L	280	ENSP00000400646:S280L	ENSP00000386075:S280L	S	-	2	0	PNPT1	55753559	0.997000	0.39634	0.027000	0.17364	0.725000	0.41563	2.503000	0.45407	0.173000	0.19788	-0.797000	0.03246	TCG	PNPT1	-	superfamily_PNPase_PH_RNA-bd_bac/org-type,pirsf_PNPase,tigrfam_PNPase	ENSG00000138035		0.383	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	94	0.00	0	G	NM_033109		55900055	55900055	-1	no_errors	ENST00000415374	ensembl	human	known	69_37n	missense	87	26.89	32	SNP	0.832	A
POLG2	11232	genome.wustl.edu	37	17	62492750	62492750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:62492750C>A	ENST00000539111.2	-	1	404	c.337G>T	c.(337-339)Gaa>Taa	p.E113*		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	113					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GTCCACCATTCTGCGGCCAGG	0.617																																					Colon(3;18 21 435 17652 48887)	dbGAP											0													76.0	72.0	73.0					17																	62492750		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.337G>T	17.37:g.62492750C>A	ENSP00000442563:p.Glu113*		O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Nonsense_Mutation	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.E113*	ENST00000539111.2	37	c.337	CCDS32706.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.236897	0.97403	.	.	ENSG00000256525	ENST00000539111	.	.	.	5.15	3.02	0.34903	.	0.174393	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.7184	16.1242	0.81382	0.0:0.4623:0.5377:0.0	.	.	.	.	X	113	.	ENSP00000442563:E113X	E	-	1	0	POLG2	59923212	0.945000	0.32115	0.968000	0.41197	0.986000	0.74619	1.607000	0.36836	1.150000	0.42419	0.555000	0.69702	GAA	POLG2	-	NULL	ENSG00000256525		0.617	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	33	0.00	0	C	NM_007215		62492750	62492750	-1	no_errors	ENST00000539111	ensembl	human	known	69_37n	nonsense	32	15.79	6	SNP	0.958	A
POLR2J3	548644	genome.wustl.edu	37	7	102212838	102212838	+	5'UTR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:102212838C>G	ENST00000504157.1	-	0	169				POLR2J3_ENST00000511313.1_Intron|RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000513438.1_Intron			Q9H1A7	RPB1C_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)										CCTCCCGGGGCAAGAGATGGG	0.612																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS47673.1	7q22.1	2013-01-21			ENSG00000168255	ENSG00000168255		"""RNA polymerase subunits"""	33853	protein-coding gene	gene with protein product						15586814	Standard	NM_001097615		Approved		uc010lid.1	Q9H1A7	OTTHUMG00000150384	ENST00000504157.1:c.-2042G>C	7.37:g.102212838C>G			A6NKA1	RNA	SNP	-	NULL	ENST00000504157.1	37	NULL		7																																																																																			POLR2J3	-	-	ENSG00000168255		0.612	POLR2J3-006	KNOWN	basic	processed_transcript	POLR2J3	HGNC	protein_coding	OTTHUMT00000358592.1	68	0.00	0	C	NM_001097615		102212838	102212838	-1	no_errors	ENST00000504157	ensembl	human	known	69_37n	rna	17	15.00	3	SNP	0.017	G
POTEH	23784	genome.wustl.edu	37	22	16287463	16287463	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:16287463G>C	ENST00000343518.6	-	1	474	c.423C>G	c.(421-423)caC>caG	p.H141Q		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	141										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGGGGAAGCAGTGGCAGCACC	0.617																																						dbGAP											0													89.0	101.0	97.0					22																	16287463		2006	3825	5831	-	-	-	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.423C>G	22.37:g.16287463G>C	ENSP00000340610:p.His141Gln		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H141Q	ENST00000343518.6	37	c.423	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	2.673	-0.277083	0.05679	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.17195	0.0413	L	0.44542	1.39	0.09310	N	1	P	0.37176	0.586	B	0.32465	0.146	T	0.14282	-1.0478	7	0.28530	T	0.3	.	.	.	.	.	141	Q6S545	POTEH_HUMAN	Q	104;141;141	ENSP00000340610:H141Q	ENSP00000340610:H141Q	H	-	3	2	POTEH	14667463	0.001000	0.12720	0.002000	0.10522	0.138000	0.21146	0.365000	0.20348	0.422000	0.26005	0.000000	0.15137	CAC	POTEH	-	NULL	ENSG00000198062		0.617	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	75	0.00	0	G	NM_001136213		16287463	16287463	-1	no_errors	ENST00000343518	ensembl	human	known	69_37n	missense	89	19.09	21	SNP	0.002	C
POU5F1	5460	genome.wustl.edu	37	6	31133802	31133802	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:31133802T>A	ENST00000259915.8	-	2	500	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000606567.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000513407.1_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	143	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GAGTTCTTTCTGCAGAGCTTT	0.473			T	EWSR1	sarcoma																																	dbGAP		Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	0													81.0	82.0	82.0					6																	31133802		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.428A>T	6.37:g.31133802T>A	ENSP00000259915:p.Gln143Leu		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.Q143L	ENST00000259915.8	37	c.428	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979006	0.53827	.	.	ENSG00000204531	ENST00000541552;ENST00000259915	D	0.81579	-1.51	4.4	3.14	0.36123	POU-specific (3);Lambda repressor-like, DNA-binding (1);	0.000000	0.38058	N	0.001833	T	0.51958	0.1705	N	0.05608	-0.01	0.80722	D	1	P;P	0.45348	0.856;0.725	B;P	0.44597	0.213;0.454	T	0.59611	-0.7422	10	0.40728	T	0.16	.	9.3651	0.38219	0.0:0.0:0.1788:0.8212	.	143;48	Q01860;D2IYK4	PO5F1_HUMAN;.	L	48;143	ENSP00000259915:Q143L	ENSP00000259915:Q143L	Q	-	2	0	POU5F1	31241781	0.927000	0.31430	0.989000	0.46669	0.996000	0.88848	1.542000	0.36137	1.983000	0.57843	0.519000	0.50382	CAG	POU5F1	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific	ENSG00000204531		0.473	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	107	0.00	0	T	NM_002701		31133802	31133802	-1	no_errors	ENST00000259915	ensembl	human	known	69_37n	missense	88	12.00	12	SNP	0.995	A
PPEF1	5475	genome.wustl.edu	37	X	18797190	18797190	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:18797190G>C	ENST00000361511.4	+	10	1115	c.621G>C	c.(619-621)aaG>aaC	p.K207N	PPEF1_ENST00000544635.1_Missense_Mutation_p.K142N|PPEF1_ENST00000359763.6_Missense_Mutation_p.K154N|PPEF1_ENST00000543630.1_Missense_Mutation_p.K207N|PPEF1_ENST00000349874.5_Missense_Mutation_p.K207N	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	207	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATCGAGGAAAGAATTCCATAG	0.418																																						dbGAP											0													154.0	148.0	150.0					X																	18797190		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.621G>C	X.37:g.18797190G>C	ENSP00000354871:p.Lys207Asn		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.K207N	ENST00000361511.4	37	c.621	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	4.427	0.078985	0.08533	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000544635	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	5.0	1.15	0.20763	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.531025	0.18422	N	0.141713	T	0.05502	0.0145	L	0.41573	1.285	0.36992	D	0.894835	B;B;B	0.20459	0.001;0.045;0.007	B;B;B	0.25140	0.002;0.058;0.006	T	0.33059	-0.9883	10	0.38643	T	0.18	-3.7552	4.8726	0.13640	0.5268:0.3079:0.1653:0.0	.	207;207;207	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	N	207;154;207;207;142	ENSP00000354871:K207N;ENSP00000352806:K154N;ENSP00000341892:K207N;ENSP00000437785:K207N;ENSP00000441289:K142N	ENSP00000341892:K207N	K	+	3	2	PPEF1	18707111	1.000000	0.71417	0.090000	0.20809	0.083000	0.17756	2.173000	0.42472	-0.140000	0.11394	-1.157000	0.01802	AAG	PPEF1	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000086717		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	69	0.00	0	G	NM_006240		18797190	18797190	+1	no_errors	ENST00000361511	ensembl	human	known	69_37n	missense	69	14.81	12	SNP	0.996	C
PPFIA3	8541	genome.wustl.edu	37	19	49643254	49643254	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:49643254G>A	ENST00000334186.4	+	18	2626	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	PPFIA3_ENST00000602351.1_Silent_p.K759K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	759					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AAGCCCCCAAGAAGAAGAGCA	0.557																																						dbGAP											0													119.0	116.0	117.0					19																	49643254		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2277G>A	19.37:g.49643254G>A			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K759	ENST00000334186.4	37	c.2277	CCDS12758.1	19																																																																																			PPFIA3	-	NULL	ENSG00000177380		0.557	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	60	0.00	0	G	NM_003660		49643254	49643254	+1	no_errors	ENST00000334186	ensembl	human	known	69_37n	silent	31	34.04	16	SNP	0.999	A
PPIF	10105	genome.wustl.edu	37	10	81113562	81113562	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:81113562G>A	ENST00000225174.3	+	6	659	c.588G>A	c.(586-588)aaG>aaA	p.K196K	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	196	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	GGACATCCAAGAAGATTGTCA	0.532																																						dbGAP											0													131.0	108.0	116.0					10																	81113562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.588G>A	10.37:g.81113562G>A			Q2YDB7|Q5W131	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K196	ENST00000225174.3	37	c.588	CCDS7358.1	10																																																																																			PPIF	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000108179		0.532	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIF	HGNC	protein_coding	OTTHUMT00000048949.1	66	0.00	0	G	NM_005729		81113562	81113562	+1	no_errors	ENST00000225174	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	1.000	A
PPOX	5498	genome.wustl.edu	37	1	161138049	161138049	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:161138049C>T	ENST00000367999.4	+	5	737				PPOX_ENST00000495483.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCACCCCCTCATAATTCCCA	0.512																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.471+132C>T	1.37:g.161138049C>T			D3DVG0|Q5VTW8	RNA	SNP	-	NULL	ENST00000367999.4	37	NULL	CCDS1221.1	1																																																																																			PPOX	-	-	ENSG00000143224		0.512	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	9	0.00	0	C	NM_000309		161138049	161138049	+1	no_errors	ENST00000490768	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	0.000	T
PPP2R5C	5527	genome.wustl.edu	37	14	102376010	102376010	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:102376010C>G	ENST00000334743.5	+	11	1284	c.1236C>G	c.(1234-1236)ttC>ttG	p.F412L	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.F443L|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.F412L|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.F412L|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.F467L	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	412					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CACAACAGTTCAAAGCAGAGA	0.373																																						dbGAP											0													129.0	121.0	124.0					14																	102376010		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1236C>G	14.37:g.102376010C>G	ENSP00000333905:p.Phe412Leu		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Nonsense_Mutation	SNP	NULL	p.S9*	ENST00000334743.5	37	c.26	CCDS9964.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.990364|3.990364	0.74589|0.74589	.|.	.|.	ENSG00000078304|ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743|ENST00000555237	T;T;T;T;T|.	0.41065|.	1.01;1.03;1.01;1.04;1.02|.	5.25|5.25	-0.452|-0.452	0.12205|0.12205	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.49932|.	0.1586|.	L|L	0.37897|0.37897	1.145|1.145	0.48288|0.48288	D|D	0.999627|0.999627	B;B;B;B;B|.	0.31413|.	0.322;0.045;0.066;0.001;0.095|.	B;B;B;B;B|.	0.22753|.	0.024;0.014;0.026;0.002;0.041|.	T|.	0.32798|.	-0.9893|.	10|.	0.66056|.	D|.	0.02|.	-14.5348|-14.5348	9.7814|9.7814	0.40651|0.40651	0.0:0.4646:0.0:0.5354|0.0:0.4646:0.0:0.5354	.|.	443;412;412;412;467|.	F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33|.	.;.;2A5G_HUMAN;.;.|.	L|X	443;467;441;412;412;412|37	ENSP00000412324:F443L;ENSP00000329009:F467L;ENSP00000450931:F441L;ENSP00000262239:F412L;ENSP00000333905:F412L|.	ENSP00000329009:F467L|.	F|S	+|+	3|2	2|0	PPP2R5C|PPP2R5C	101445763|101445763	0.974000|0.974000	0.33945|0.33945	0.998000|0.998000	0.56505|0.56505	0.960000|0.960000	0.62799|0.62799	0.193000|0.193000	0.17116|0.17116	-0.191000|-0.191000	0.10448|0.10448	-0.345000|-0.345000	0.07892|0.07892	TTC|TCA	PPP2R5C	-	NULL	ENSG00000078304		0.373	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	62	0.00	0	C	NM_002719		102376010	102376010	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000557071	ensembl	human	known	69_37n	nonsense	36	24.49	12	SNP	1.000	G
PQBP1	10084	genome.wustl.edu	37	X	48755788	48755788	+	5'UTR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:48755788C>G	ENST00000376563.1	+	0	196				PQBP1_ENST00000396763.1_5'UTR|TIMM17B_ENST00000396779.3_5'Flank|TIMM17B_ENST00000495490.2_5'Flank|PQBP1_ENST00000447146.2_5'UTR|PQBP1_ENST00000247140.4_5'UTR|PQBP1_ENST00000376566.4_5'UTR|PQBP1_ENST00000376548.5_5'UTR|PQBP1_ENST00000218224.4_5'UTR|TIMM17B_ENST00000472645.1_5'Flank|TIMM17B_ENST00000465150.2_5'Flank|TIMM17B_ENST00000376582.3_5'Flank|PQBP1_ENST00000473764.1_3'UTR	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						TGTCTGCTATCAGCTATGCCG	0.527																																						dbGAP											0													131.0	100.0	110.0					X																	48755788		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.-5C>G	X.37:g.48755788C>G			Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	RNA	SNP	-	NULL	ENST00000376563.1	37	NULL	CCDS14309.1	X																																																																																			PQBP1	-	-	ENSG00000102103		0.527	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	182	0.00	0	C	NM_001032381.1		48755788	48755788	+1	no_errors	ENST00000470062	ensembl	human	known	69_37n	rna	64	35.35	35	SNP	0.000	G
PRAMEF6	440561	genome.wustl.edu	37	1	13001260	13001260	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:13001260C>T	ENST00000376189.1	-	3	522	c.423G>A	c.(421-423)atG>atA	p.M141I	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.M141I	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	141					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTCCTCTCATCCTTGGAC	0.512																																						dbGAP											0													258.0	487.0	405.0					1																	13001260		1508	2707	4215	-	-	-	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.423G>A	1.37:g.13001260C>T	ENSP00000365360:p.Met141Ile		A0AUJ9	Missense_Mutation	SNP	NULL	p.M141I	ENST00000376189.1	37	c.423	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	1.302	-0.604556	0.03717	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04809	3.55;3.55;3.55	1.43	-2.71	0.05986	.	3.492440	0.01122	N	0.005808	T	0.04003	0.0112	L	0.36672	1.1	0.09310	N	1	B	0.24576	0.106	B	0.22880	0.042	T	0.36237	-0.9756	10	0.18276	T	0.48	.	1.994	0.03452	0.2589:0.3496:0.0:0.3915	.	141	Q5VXH4	PRAM6_HUMAN	I	141	ENSP00000365360:M141I;ENSP00000401281:M141I;ENSP00000347211:M141I	ENSP00000347211:M141I	M	-	3	0	PRAMEF6	12923847	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.936000	0.01549	-0.792000	0.04480	-0.534000	0.04291	ATG	PRAMEF6	-	NULL	ENSG00000232423		0.512	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		73	0.00	0	C	NM_001010889		13001260	13001260	-1	no_errors	ENST00000355096	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.000	T
PRDX3	10935	genome.wustl.edu	37	10	120936582	120936582	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:120936582C>T	ENST00000298510.2	-	2	162	c.120G>A	c.(118-120)ttG>ttA	p.L40L	PRDX3_ENST00000356951.3_Silent_p.L40L	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	40					cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ATAAATTTGTCAAGCTCGTTC	0.468																																					Pancreas(36;562 1096 2447 42526)	dbGAP											0													60.0	56.0	57.0					10																	120936582		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.120G>A	10.37:g.120936582C>T			B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Silent	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.L40	ENST00000298510.2	37	c.120	CCDS7611.1	10																																																																																			PRDX3	-	NULL	ENSG00000165672		0.468	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX3	HGNC	protein_coding	OTTHUMT00000050639.1	38	0.00	0	C	NM_006793		120936582	120936582	-1	no_errors	ENST00000298510	ensembl	human	known	69_37n	silent	33	23.26	10	SNP	0.015	T
PRDX4	10549	genome.wustl.edu	37	X	23704421	23704421	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:23704421G>C	ENST00000379341.4	+	7	910	c.785G>C	c.(784-786)gGa>gCa	p.G262A		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	262					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GATCCAGCTGGAAAGCTGAAG	0.333																																						dbGAP											0													103.0	86.0	92.0					X																	23704421		2203	4299	6502	-	-	-	SO:0001583	missense	0			U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.785G>C	X.37:g.23704421G>C	ENSP00000368646:p.Gly262Ala		Q6FHT3	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.G262A	ENST00000379341.4	37	c.785	CCDS14206.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.27|13.27	2.186746|2.186746	0.38609|0.38609	.|.	.|.	ENSG00000123131|ENSG00000123131	ENST00000439422|ENST00000379341	.|T	.|0.21191	.|2.02	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.27384|0.27384	0.0672|0.0672	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|B	.|0.15930	.|0.015	.|B	.|0.11329	.|0.006	T|T	0.02837|0.02837	-1.1104|-1.1104	5|10	.|0.29301	.|T	.|0.29	-16.977|-16.977	19.4045|19.4045	0.94643|0.94643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|262	.|Q13162	.|PRDX4_HUMAN	Q|A	155|262	.|ENSP00000368646:G262A	.|ENSP00000368646:G262A	E|G	+|+	1|2	0|0	PRDX4|PRDX4	23614342|23614342	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.958000|6.958000	0.76025|0.76025	2.536000|2.536000	0.85505|0.85505	0.600000|0.600000	0.82982|0.82982	GAA|GGA	PRDX4	-	pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	ENSG00000123131		0.333	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX4	HGNC	protein_coding	OTTHUMT00000056049.1	114	0.00	0	G	NM_006406		23704421	23704421	+1	no_errors	ENST00000379341	ensembl	human	known	69_37n	missense	67	29.17	28	SNP	1.000	C
HELZ2	85441	genome.wustl.edu	37	20	62203587	62203587	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:62203587G>C	ENST00000467148.1	-	1	221	c.152C>G	c.(151-153)tCt>tGt	p.S51C	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	51					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCCTCCTGAGAGTGGCAGGT	0.711																																						dbGAP											0													27.0	21.0	23.0					20																	62203587		2180	4288	6468	-	-	-	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.152C>G	20.37:g.62203587G>C	ENSP00000417401:p.Ser51Cys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S51C	ENST00000467148.1	37	c.152	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268792	0.80469	.	.	ENSG00000130589	ENST00000467148	T	0.02709	4.19	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);	0.229548	0.37669	N	0.001995	T	0.15003	0.0362	M	0.76574	2.34	0.40375	D	0.979386	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.97	T	0.01767	-1.1278	10	0.72032	D	0.01	-13.0336	16.3882	0.83523	0.0:0.0:1.0:0.0	.	51;51	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	C	51	ENSP00000417401:S51C	ENSP00000417401:S51C	S	-	2	0	RP4-697K14.7	61674031	1.000000	0.71417	0.302000	0.25058	0.927000	0.56198	6.907000	0.75724	1.863000	0.54032	0.655000	0.94253	TCT	RP4-697K14.7	-	NULL	ENSG00000130589		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	20	0.00	0	G	NM_001037335		62203587	62203587	-1	no_errors	ENST00000467148	ensembl	human	known	69_37n	missense	6	36.36	4	SNP	0.996	C
PRIM1	5557	genome.wustl.edu	37	12	57144894	57144894	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:57144894C>G	ENST00000338193.6	-	2	225	c.189G>C	c.(187-189)caG>caC	p.Q63H	HSD17B6_ENST00000554150.1_5'Flank|HSD17B6_ENST00000555805.1_5'Flank|PRIM1_ENST00000552408.1_5'UTR|HSD17B6_ENST00000554643.1_5'Flank|HSD17B6_ENST00000555159.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	63					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						CCAGATCACTCTGGTTGTTGA	0.313																																						dbGAP											0													93.0	84.0	87.0					12																	57144894		1828	4080	5908	-	-	-	SO:0001583	missense	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.189G>C	12.37:g.57144894C>G	ENSP00000350491:p.Gln63His			Missense_Mutation	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.Q63H	ENST00000338193.6	37	c.189	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308495	0.60305	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.44083	0.93;0.93	5.01	1.08	0.20341	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.46885	1.475	0.48341	D	0.999631	B;B	0.34214	0.442;0.01	B;B	0.32211	0.142;0.017	T	0.03315	-1.1049	10	0.34782	T	0.22	-11.0976	5.5013	0.16831	0.0:0.4611:0.1379:0.401	.	63;63	F8VSB2;P49642	.;PRI1_HUMAN	H	63;63;66	ENSP00000350491:Q63H;ENSP00000450185:Q66H	ENSP00000350491:Q63H	Q	-	3	2	PRIM1	55431161	0.993000	0.37304	0.956000	0.39512	0.811000	0.45836	1.170000	0.31883	0.268000	0.21939	-0.300000	0.09419	CAG	PRIM1	-	tigrfam_DNA_primase_ssu_euk/arc	ENSG00000198056		0.313	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	182	0.00	0	C	NM_000946		57144894	57144894	-1	no_errors	ENST00000338193	ensembl	human	known	69_37n	missense	149	10.71	18	SNP	0.777	G
PROKR1	10887	genome.wustl.edu	37	2	68873407	68873407	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:68873407A>C	ENST00000303786.3	+	2	874	c.454A>C	c.(454-456)Acc>Ccc	p.T152P	PROKR1_ENST00000394342.2_Missense_Mutation_p.T152P			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	152					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGTCTCCACCAATGCCCT	0.592																																						dbGAP											0													86.0	80.0	82.0					2																	68873407		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.454A>C	2.37:g.68873407A>C	ENSP00000303775:p.Thr152Pro		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.T152P	ENST00000303786.3	37	c.454	CCDS1889.1	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077805	0.76528	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72394	-0.65;-0.65	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.092782	0.64402	D	0.000001	D	0.85274	0.5659	M	0.87617	2.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.87606	0.2500	10	0.72032	D	0.01	.	13.3807	0.60766	1.0:0.0:0.0:0.0	.	152	Q8TCW9	PKR1_HUMAN	P	152	ENSP00000303775:T152P;ENSP00000377874:T152P	ENSP00000303775:T152P	T	+	1	0	PROKR1	68726911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.226000	0.78060	2.330000	0.79161	0.528000	0.53228	ACC	PROKR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169618		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	HGNC	protein_coding	OTTHUMT00000251760.2	59	0.00	0	A			68873407	68873407	+1	no_errors	ENST00000303786	ensembl	human	known	69_37n	missense	36	11.63	5	SNP	1.000	C
PRPF40A	55660	genome.wustl.edu	37	2	153533208	153533208	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:153533208C>T	ENST00000410080.1	-	10	1283	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	275					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						GCTGCTGCTTCGGCAGCAGCC	0.507																																						dbGAP											0													49.0	52.0	51.0					2																	153533208		1554	3200	4754	-	-	-	SO:0001583	missense	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.742G>A	2.37:g.153533208C>T	ENSP00000386458:p.Glu248Lys		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1	p.E248K	ENST00000410080.1	37	c.742	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	C	8.983	0.975886	0.18736	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856;ENST00000493468	T	0.30182	1.54	5.26	5.26	0.73747	.	0.264429	0.31461	N	0.007606	T	0.09992	0.0245	N	0.08118	0	0.46725	D	0.99917	P;B;B	0.44195	0.828;0.329;0.001	B;B;B	0.28385	0.089;0.061;0.001	T	0.23726	-1.0180	10	0.06625	T	0.88	-20.1975	9.9652	0.41721	0.0:0.9068:0.0:0.0932	.	275;257;248	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	K	248;257;144;195;275;250	ENSP00000386458:E248K	ENSP00000348770:E257K	E	-	1	0	PRPF40A	153241454	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	2.849000	0.48286	2.449000	0.82847	0.557000	0.71058	GAA	PRPF40A	-	prints_Antifreeze_1	ENSG00000196504		0.507	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	178	0.00	0	C	XM_371575		153533208	153533208	-1	no_errors	ENST00000410080	ensembl	human	known	69_37n	missense	66	33.33	33	SNP	1.000	T
PRR16	51334	genome.wustl.edu	37	5	120022150	120022150	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:120022150G>A	ENST00000407149.2	+	2	870	c.661G>A	c.(661-663)Gat>Aat	p.D221N	PRR16_ENST00000446965.1_Missense_Mutation_p.D151N|PRR16_ENST00000505123.1_Missense_Mutation_p.D151N|PRR16_ENST00000379551.2_Missense_Mutation_p.D198N			Q569H4	LARGN_HUMAN	proline rich 16	221	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCTGACTGTGATACCCGGTA	0.502																																						dbGAP											0													75.0	76.0	76.0					5																	120022150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.661G>A	5.37:g.120022150G>A	ENSP00000385118:p.Asp221Asn		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.D221N	ENST00000407149.2	37	c.661		5	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638630	0.87760	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.45	5.45	0.79879	.	0.105878	0.64402	D	0.000008	T	0.79082	0.4386	M	0.65498	2.005	0.58432	D	0.999995	P;D	0.59357	0.934;0.985	P;P	0.54270	0.517;0.747	T	0.78653	-0.2120	9	.	.	.	-0.3422	18.1142	0.89545	0.0:0.0:1.0:0.0	.	221;198	Q569H4;Q569H4-3	PRR16_HUMAN;.	N	221;198;151;151	ENSP00000385118:D221N;ENSP00000368869:D198N;ENSP00000423446:D151N;ENSP00000405491:D151N	.	D	+	1	0	PRR16	120050049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.563000	0.86464	0.650000	0.86243	GAT	PRR16	-	NULL	ENSG00000184838		0.502	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	36	0.00	0	G	NM_016644		120022150	120022150	+1	no_errors	ENST00000407149	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	A
PSD2	84249	genome.wustl.edu	37	5	139221911	139221911	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:139221911C>G	ENST00000274710.3	+	15	2373	c.2168C>G	c.(2167-2169)tCa>tGa	p.S723*		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	723					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGGGCTCAGATGATCTG	0.522																																						dbGAP											0													69.0	68.0	68.0					5																	139221911		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2168C>G	5.37:g.139221911C>G	ENSP00000274710:p.Ser723*		D3DQD3|Q8N3J8	Nonsense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.S723*	ENST00000274710.3	37	c.2168	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.191461	0.98699	.	.	ENSG00000146005	ENST00000274710	.	.	.	5.91	4.99	0.66335	.	0.233285	0.33161	N	0.005206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.9383	0.70975	0.0:0.858:0.142:0.0	.	.	.	.	X	723	.	ENSP00000274710:S723X	S	+	2	0	PSD2	139202095	0.996000	0.38824	0.997000	0.53966	0.971000	0.66376	3.390000	0.52523	2.793000	0.96121	0.655000	0.94253	TCA	PSD2	-	NULL	ENSG00000146005		0.522	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	85	0.00	0	C	NM_032289		139221911	139221911	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	nonsense	49	19.67	12	SNP	0.993	G
PSEN1	5663	genome.wustl.edu	37	14	73664751	73664751	+	Missense_Mutation	SNP	T	T	G	rs199723282	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:73664751T>G	ENST00000324501.5	+	8	1054	c.782T>G	c.(781-783)gTt>gGt	p.V261G	PSEN1_ENST00000344094.3_Missense_Mutation_p.V261G|PSEN1_ENST00000557511.1_Missense_Mutation_p.V261G|PSEN1_ENST00000357710.4_Missense_Mutation_p.V257G|PSEN1_ENST00000394164.1_Missense_Mutation_p.V257G|PSEN1_ENST00000406768.1_Missense_Mutation_p.V169G|PSEN1_ENST00000261970.3_Missense_Mutation_p.V261G	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	261					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTAGTGGCTGTTTTGTGTCCG	0.373																																						dbGAP											0													54.0	55.0	55.0					14																	73664751		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.782T>G	14.37:g.73664751T>G	ENSP00000326366:p.Val261Gly		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.V261G	ENST00000324501.5	37	c.782	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456584	0.84317	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.82	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	0.968;1.0	D;D	0.91635	0.928;0.999	D	0.96784	0.9577	10	0.87932	D	0	-23.193	11.8546	0.52429	0.0:0.0682:0.0:0.9318	.	257;261	P49768-2;P49768	.;PSN1_HUMAN	G	261;257;261;261;257;261;169	ENSP00000326366:V261G;ENSP00000350342:V257G;ENSP00000261970:V261G;ENSP00000339523:V261G;ENSP00000377719:V257G;ENSP00000451429:V261G;ENSP00000385948:V169G	ENSP00000261970:V261G	V	+	2	0	PSEN1	72734504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.963000	0.87922	1.029000	0.39812	0.533000	0.62120	GTT	PSEN1	-	pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Peptidase_A22A	ENSG00000080815		0.373	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	135	0.00	0	T			73664751	73664751	+1	no_errors	ENST00000324501	ensembl	human	known	69_37n	missense	79	25.93	28	SNP	1.000	G
PSG11	5680	genome.wustl.edu	37	19	43519387	43519387	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:43519387G>C	ENST00000401740.1	-	4	948	c.845C>G	c.(844-846)tCa>tGa	p.S282*	PSG11_ENST00000403486.1_Nonsense_Mutation_p.S160*|PSG11_ENST00000320078.7_Nonsense_Mutation_p.S282*|PSG11_ENST00000306322.7_Nonsense_Mutation_p.S160*|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	291	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTTTTGTCCTGATAGCTGAAA	0.468																																						dbGAP											0													166.0	168.0	167.0					19																	43519387		2199	4297	6496	-	-	-	SO:0001587	stop_gained	0			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.845C>G	19.37:g.43519387G>C	ENSP00000384995:p.Ser282*		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S282*	ENST00000401740.1	37	c.845	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013123	0.35511	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	.	.	.	0.418	0.418	0.16429	.	.	.	.	.	.	.	.	.	.	.	0.54753	A	0.999989	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	282;160;160;282	.	ENSP00000304913:S160X	S	-	2	0	PSG11	48211227	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	-1.314000	0.02715	0.453000	0.26858	0.184000	0.17185	TCA	PSG11	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000243130		0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	110	0.00	0	G	NM_002785		43519387	43519387	-1	no_errors	ENST00000320078	ensembl	human	known	69_37n	nonsense	97	24.81	32	SNP	0.004	C
PSMA6	5687	genome.wustl.edu	37	14	35782183	35782183	+	Missense_Mutation	SNP	G	G	A	rs267603983		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:35782183G>A	ENST00000261479.4	+	5	626	c.506G>A	c.(505-507)gGa>gAa	p.G169E	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.G169E|PSMA6_ENST00000540871.1_Missense_Mutation_p.G150E|PSMA6_ENST00000555764.1_Missense_Mutation_p.G90E|PSMA6_ENST00000553809.1_Missense_Mutation_p.G175E	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	169					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		ACTGCAGCGGGAGTTAAACAA	0.393																																						dbGAP											0													120.0	131.0	127.0					14																	35782183		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.506G>A	14.37:g.35782183G>A	ENSP00000261479:p.Gly169Glu		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.G169E	ENST00000261479.4	37	c.506	CCDS9655.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558638	0.86231	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764;ENST00000556506	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.57	4.68	0.58851	.	0.047013	0.85682	N	0.000000	D	0.96352	0.8810	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97664	1.0162	10	0.87932	D	0	-28.9392	14.9152	0.70792	0.0694:0.0:0.9306:0.0	.	169	P60900	PSA6_HUMAN	E	150;169;175;90;169	ENSP00000444844:G150E;ENSP00000261479:G169E;ENSP00000452603:G175E;ENSP00000452566:G90E;ENSP00000450528:G169E	ENSP00000261479:G169E	G	+	2	0	PSMA6	34851934	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.777000	0.99008	1.479000	0.48272	-0.150000	0.13652	GGA	PSMA6	-	pfam_Proteasome_sua/b	ENSG00000100902		0.393	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSMA6	HGNC	protein_coding	OTTHUMT00000276684.1	62	0.00	0	G			35782183	35782183	+1	no_errors	ENST00000261479	ensembl	human	known	69_37n	missense	50	12.28	7	SNP	1.000	A
PSMD1	5707	genome.wustl.edu	37	2	232011053	232011053	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:232011053G>A	ENST00000308696.6	+	18	2260	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	PSMD1_ENST00000409643.1_Missense_Mutation_p.E700K|PSMD1_ENST00000373635.4_Missense_Mutation_p.E700K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	700					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCAGCAGACTGAAATCACTTG	0.428																																						dbGAP											0													101.0	95.0	97.0					2																	232011053		2203	4300	6503	-	-	-	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2098G>A	2.37:g.232011053G>A	ENSP00000309474:p.Glu700Lys		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.E700K	ENST00000308696.6	37	c.2098	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455860	0.84209	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.34667	1.35;1.35;1.35	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	M	0.76328	2.33	0.80722	D	1	B;P	0.36010	0.435;0.532	B;B	0.32149	0.141;0.122	T	0.46317	-0.9200	10	0.52906	T	0.07	-17.6829	17.7912	0.88553	0.0:0.0:1.0:0.0	.	700;700	Q99460;Q99460-2	PSMD1_HUMAN;.	K	700	ENSP00000309474:E700K;ENSP00000362738:E700K;ENSP00000386932:E700K	ENSP00000309474:E700K	E	+	1	0	PSMD1	231719297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.987000	0.93497	2.563000	0.86464	0.555000	0.69702	GAA	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.428	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	47	0.00	0	G			232011053	232011053	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	A
PSMD3	5709	genome.wustl.edu	37	17	38153808	38153808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:38153808G>T	ENST00000264639.4	+	12	1753	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	PSMD3_ENST00000541736.1_3'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	527					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GGAGATGGCAGAAGATGATGA	0.617																																					Ovarian(186;531 2051 6385 19668 48409)	dbGAP											0													83.0	80.0	81.0					17																	38153808		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1579G>T	17.37:g.38153808G>T	ENSP00000264639:p.Glu527*		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Nonsense_Mutation	SNP	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.E527*	ENST00000264639.4	37	c.1579	CCDS11356.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.374516	0.97515	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000540504	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4538	18.3903	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	X	527;514;108	.	ENSP00000264639:E527X	E	+	1	0	PSMD3	35407334	1.000000	0.71417	0.954000	0.39281	0.979000	0.70002	9.556000	0.98127	2.666000	0.90696	0.561000	0.74099	GAA	PSMD3	-	pfam_26S_Psome_reg_C	ENSG00000108344		0.617	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1	23	0.00	0	G	NM_002809		38153808	38153808	+1	no_errors	ENST00000264639	ensembl	human	known	69_37n	nonsense	23	37.84	14	SNP	1.000	T
PSMD6	9861	genome.wustl.edu	37	3	64009039	64009039	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:64009039G>C	ENST00000295901.4	-	1	197	c.57C>G	c.(55-57)atC>atG	p.I19M	PSMD6_ENST00000394431.2_Intron|PSMD6_ENST00000492933.1_Missense_Mutation_p.I19M|PSMD6_ENST00000482510.1_Intron	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCAGCTGCGCGATACGCAAGT	0.672																																						dbGAP											0													26.0	27.0	27.0					3																	64009039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.57C>G	3.37:g.64009039G>C	ENSP00000295901:p.Ile19Met		A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.I19M	ENST00000295901.4	37	c.57	CCDS2901.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413835	0.83449	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000478185	.	.	.	5.19	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.62723	1.935	0.80722	D	1	P;P	0.50443	0.935;0.628	P;B	0.55260	0.772;0.368	T	0.71839	-0.4471	9	0.87932	D	0	.	13.8894	0.63729	0.0739:0.0:0.9261:0.0	.	19;19	C9IZE4;Q15008	.;PSMD6_HUMAN	M	19	.	ENSP00000295901:I19M	I	-	3	3	PSMD6	63984079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.666000	0.54540	1.330000	0.45394	0.467000	0.42956	ATC	PSMD6	-	NULL	ENSG00000163636		0.672	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1	19	0.00	0	G	NM_014814		64009039	64009039	-1	no_errors	ENST00000295901	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	C
PTCD3	55037	genome.wustl.edu	37	2	86358205	86358206	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:86358205_86358206insT	ENST00000254630.7	+	16	1308_1309	c.1242_1243insT	c.(1243-1245)tttfs	p.F415fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	415					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTCAGATAAGTTTTTTCAGTC	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1248dupT	2.37:g.86358211_86358211dupT	ENSP00000254630:p.Phe415fs		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Frame_Shift_Ins	INS	NULL	p.Q416fs	ENST00000254630.7	37	c.1242_1243	CCDS33235.1	2																																																																																			PTCD3	-	NULL	ENSG00000132300		0.317	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD3	HGNC	protein_coding	OTTHUMT00000329854.1	114	0.00	0	-	NM_017952		86358205	86358206	+1	no_errors	ENST00000254630	ensembl	human	known	69_37n	frame_shift_ins	111	18.38	25	INS	0.982:1.000	T
PTCHD4	442213	genome.wustl.edu	37	6	47846040	47846040	+	Nonstop_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:47846040C>G	ENST00000339488.4	-	3	2573	c.2540G>C	c.(2539-2541)tGa>tCa	p.*847S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	0						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTATACCCCTCATACTGTGGT	0.453																																						dbGAP											0													140.0	143.0	142.0					6																	47846040		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2540G>C	6.37:g.47846040C>G			B0QZ29|B4DRK3|Q5T884	Nonstop_Mutation	SNP	pfam_Patched,pfscan_SSD	p.*847S	ENST00000339488.4	37	c.2540	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583572	0.46006	.	.	ENSG00000244694	ENST00000339488	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	S	847	.	.	X	-	2	2	C6orf138	47953999	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.765000	0.68834	2.850000	0.98022	0.650000	0.86243	TGA	PTCHD4	-	NULL	ENSG00000244694		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	47	0.00	0	C	NM_001013732		47846040	47846040	-1	no_errors	ENST00000339488	ensembl	human	known	69_37n	nonstop	50	15.25	9	SNP	1.000	G
PTPN23	25930	genome.wustl.edu	37	3	47451651	47451651	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:47451651C>T	ENST00000265562.4	+	20	2440	c.2363C>T	c.(2362-2364)tCa>tTa	p.S788L	PTPN23_ENST00000431726.1_Missense_Mutation_p.S662L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	788	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACTATCTCTCAGGCCCCTTG	0.687																																						dbGAP											0													41.0	40.0	40.0					3																	47451651		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2363C>T	3.37:g.47451651C>T	ENSP00000265562:p.Ser788Leu		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S788L	ENST00000265562.4	37	c.2363	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459135	0.26248	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.02709	4.19	3.86	3.86	0.44501	.	0.551728	0.16331	N	0.219114	T	0.02494	0.0076	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.19817	0.016;0.039	B;B	0.12156	0.007;0.007	T	0.45175	-0.9279	10	0.34782	T	0.22	-2.5802	14.7557	0.69564	0.0:1.0:0.0:0.0	.	662;788	B4DST5;Q9H3S7	.;PTN23_HUMAN	L	753;788	ENSP00000265562:S788L	ENSP00000265562:S788L	S	+	2	0	PTPN23	47426655	0.096000	0.21769	0.376000	0.26042	0.773000	0.43773	3.945000	0.56637	2.009000	0.58944	0.455000	0.32223	TCA	PTPN23	-	NULL	ENSG00000076201		0.687	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	37	0.00	0	C	NM_015466		47451651	47451651	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.260	T
PTPN23	25930	genome.wustl.edu	37	3	47453831	47453831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:47453831G>T	ENST00000265562.4	+	23	4314	c.4237G>T	c.(4237-4239)Gag>Tag	p.E1413*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.E1287*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1413	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGGAGGTGGAGGCTGGGAA	0.622																																						dbGAP											0													48.0	51.0	50.0					3																	47453831		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4237G>T	3.37:g.47453831G>T	ENSP00000265562:p.Glu1413*		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Nonsense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E1413*	ENST00000265562.4	37	c.4237	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.265869	0.99371	.	.	ENSG00000076201	ENST00000265562	.	.	.	3.99	3.99	0.46301	.	0.134244	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-26.0269	15.0391	0.71774	0.0:0.0:1.0:0.0	.	.	.	.	X	1413	.	ENSP00000265562:E1413X	E	+	1	0	PTPN23	47428835	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	9.055000	0.93873	2.045000	0.60652	0.563000	0.77884	GAG	PTPN23	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000076201		0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	20	0.00	0	G	NM_015466		47453831	47453831	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	nonsense	12	25.00	4	SNP	1.000	T
PTPRA	5786	genome.wustl.edu	37	20	2967452	2967452	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:2967452C>T	ENST00000216877.6	+	6	857	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	PTPRA_ENST00000380393.3_Silent_p.L162L|PTPRA_ENST00000425918.2_Silent_p.L173L|PTPRA_ENST00000358719.4_Silent_p.L7L|PTPRA_ENST00000399903.2_Silent_p.L162L|PTPRA_ENST00000318266.5_Silent_p.L153L|PTPRA_ENST00000356147.3_Silent_p.L153L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	153					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGTCCTCTCTGCTAGTGAT	0.413																																						dbGAP											0													369.0	288.0	315.0					20																	2967452		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.457C>T	20.37:g.2967452C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L173	ENST00000216877.6	37	c.517	CCDS13039.1	20																																																																																			PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type	ENSG00000132670		0.413	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	153	0.00	0	C			2967452	2967452	+1	no_errors	ENST00000425918	ensembl	human	known	69_37n	silent	105	23.36	32	SNP	1.000	T
PTPRB	5787	genome.wustl.edu	37	12	70953346	70953346	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:70953346G>A	ENST00000261266.5	-	16	3866	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	PTPRB_ENST00000538708.1_Silent_p.I1189I|PTPRB_ENST00000451516.2_Silent_p.I1189I|PTPRB_ENST00000551525.1_Silent_p.I1496I|PTPRB_ENST00000550358.1_Silent_p.I1409I|PTPRB_ENST00000334414.6_Silent_p.I1497I|PTPRB_ENST00000550857.1_Silent_p.I1189I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1279	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTCCACGTGATGGCCAAGG	0.468																																						dbGAP											0													154.0	152.0	152.0					12																	70953346		1977	4162	6139	-	-	-	SO:0001819	synonymous_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3837C>T	12.37:g.70953346G>A			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I1497	ENST00000261266.5	37	c.4491	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000127329		0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	114	0.00	0	G			70953346	70953346	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	silent	71	17.24	15	SNP	1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8525027	8525027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:8525027G>A	ENST00000381196.4	-	15	1120	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q190*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q190*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q184*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q184*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q193*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q187*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q193*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q193*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q187*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q193*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	193	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCTCAATCTGAAGGGCTCCT	0.433										TSP Lung(15;0.13)																												dbGAP											0													146.0	153.0	150.0					9																	8525027		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.577C>T	9.37:g.8525027G>A	ENSP00000370593:p.Gln193*		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q193*	ENST00000381196.4	37	c.577	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710317	0.68730	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0236	0.97511	0.0:0.0:1.0:0.0	.	.	.	.	X	193;193;184;184;193;187;190;190;193;193;193;187	.	.	Q	-	1	0	PTPRD	8515027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.802000	0.99131	2.721000	0.93114	0.655000	0.94253	CAG	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000153707		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	56	0.00	0	G			8525027	8525027	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	nonsense	59	13.24	9	SNP	1.000	A
PTPRQ	374462	genome.wustl.edu	37	12	80935445	80935445	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:80935445C>G	ENST00000266688.5	+	26	3254	c.3254C>G	c.(3253-3255)tCa>tGa	p.S1085*				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1131	Fibronectin type-III 11. {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						TACTATGTTTCACTGATCTTA	0.398																																						dbGAP											0													123.0	99.0	107.0					12																	80935445		692	1591	2283	-	-	-	SO:0001587	stop_gained	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.3254C>G	12.37:g.80935445C>G	ENSP00000266688:p.Ser1085*			Nonsense_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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1085*	ENST00000266688.5	37	c.3254		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.470468|8.470468	0.98825|0.98825	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|.	.|.	.|.	.|.	T|.	0.71567|.	0.3355|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65154|.	-0.6237|.	3|.	.|0.27082	.|T	.|0.32	.|.	18.4092|18.4092	0.90545|0.90545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	786|1085	.|.	.|ENSP00000266688:S1085X	H|S	+|+	1|2	0|0	PTPRQ|PTPRQ	79459576|79459576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.262000|5.262000	0.65501|0.65501	2.787000|2.787000	0.95880|0.95880	0.655000|0.655000	0.94253|0.94253	CAC|TCA	PTPRQ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.398	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		57	0.00	0	C	NM_001145026		80935445	80935445	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	nonsense	45	16.36	9	SNP	1.000	G
PUF60	22827	genome.wustl.edu	37	8	144899196	144899196	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:144899196C>T	ENST00000526683.1	-	11	1819	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	PUF60_ENST00000524570.1_5'Flank|SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000349157.6_Missense_Mutation_p.E405K|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.E393K|PUF60_ENST00000313352.7_Missense_Mutation_p.E362K|PUF60_ENST00000453551.2_Missense_Mutation_p.E379K|PUF60_ENST00000527197.1_Missense_Mutation_p.E376K	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	422	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AACAGCTCCTCTTCTTCCTTC	0.612																																						dbGAP											0													40.0	40.0	40.0					8																	144899196		2154	4265	6419	-	-	-	SO:0001583	missense	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1264G>A	8.37:g.144899196C>T	ENSP00000434359:p.Glu422Lys		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.E422K	ENST00000526683.1	37	c.1264	CCDS47934.1	8	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461652	0.63513	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.14766	2.57;2.6;2.62;2.61;2.48;2.59	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	N	0.20530	0.585	0.80722	D	1	D;D;D	0.56968	0.978;0.978;0.963	P;P;B	0.52957	0.714;0.714;0.424	T	0.06625	-1.0816	10	0.27082	T	0.32	.	17.3601	0.87347	0.0:1.0:0.0:0.0	.	393;405;422	Q9UHX1-5;Q9UHX1-2;Q9UHX1	.;.;PUF60_HUMAN	K	422;379;362;393;405;376	ENSP00000434359:E422K;ENSP00000402953:E379K;ENSP00000322016:E362K;ENSP00000395417:E393K;ENSP00000322036:E405K;ENSP00000431960:E376K	ENSP00000322016:E362K	E	-	1	0	PUF60	144971184	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	7.316000	0.79007	2.352000	0.79861	0.557000	0.71058	GAG	PUF60	-	NULL	ENSG00000179950		0.612	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	51	0.00	0	C	NM_014281		144899196	144899196	-1	no_errors	ENST00000526683	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	T
PUS7	54517	genome.wustl.edu	37	7	105146666	105146666	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:105146666C>G	ENST00000356362.2	-	3	667	c.453G>C	c.(451-453)ttG>ttC	p.L151F	PUS7_ENST00000469408.1_Missense_Mutation_p.L151F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	151					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACAAGTCATTCAAATGGCTGA	0.353																																					Colon(138;2387 3051 17860)	dbGAP											0													70.0	69.0	69.0					7																	105146666		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.453G>C	7.37:g.105146666C>G	ENSP00000348722:p.Leu151Phe		Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.L151F	ENST00000356362.2	37	c.453	CCDS34725.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.01|19.01	3.743248|3.743248	0.69418|0.69418	.|.	.|.	ENSG00000091127|ENSG00000091127	ENST00000482157|ENST00000356362;ENST00000544995;ENST00000469408	.|T;T	.|0.68479	.|-0.33;-0.33	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80763|0.80763	0.4685|0.4685	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.82094|0.82094	-0.0627|-0.0627	5|10	.|0.66056	.|D	.|0.02	1.851|1.851	10.4032|10.4032	0.44241|0.44241	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	.|151;151	.|B3KY42;Q96PZ0	.|.;PUS7_HUMAN	Q|F	26|151	.|ENSP00000348722:L151F;ENSP00000417402:L151F	.|ENSP00000348722:L151F	E|L	-|-	1|3	0|2	PUS7|PUS7	104933902|104933902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	1.372000|1.372000	0.34261|0.34261	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	GAA|TTG	PUS7	-	superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk	ENSG00000091127		0.353	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1	80	0.00	0	C	NM_019042		105146666	105146666	-1	no_errors	ENST00000356362	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	1.000	G
PWP2	5822	genome.wustl.edu	37	21	45534480	45534480	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:45534480C>T	ENST00000291576.7	+	5	453					NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TCTTGAATATCAACTATGTCC	0.552											OREG0026247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													88.0	67.0	74.0					21																	45534480		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.327-26C>T	21.37:g.45534480C>T		932	B2RAG8|Q96A77	RNA	SNP	-	NULL	ENST00000291576.7	37	NULL	CCDS33579.1	21																																																																																			PWP2	-	-	ENSG00000241945		0.552	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	38	0.00	0	C	NM_005049		45534480	45534480	+1	no_errors	ENST00000486126	ensembl	human	putative	69_37n	rna	32	23.81	10	SNP	0.002	T
PXDNL	137902	genome.wustl.edu	37	8	52323876	52323876	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:52323876C>T	ENST00000356297.4	-	16	2096	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E666K	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	666					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGTGTGCTCAAAAATCTCC	0.512																																						dbGAP											0													63.0	63.0	63.0					8																	52323876		1980	4176	6156	-	-	-	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1996G>A	8.37:g.52323876C>T	ENSP00000348645:p.Glu666Lys		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.E666K	ENST00000356297.4	37	c.1996	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945434	0.73672	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68331	-0.32;-0.3	4.46	3.57	0.40892	.	.	.	.	.	T	0.81809	0.4901	M	0.85630	2.765	0.37945	D	0.932442	D	0.89917	1.0	D	0.79108	0.992	D	0.85536	0.1212	9	0.87932	D	0	.	12.0463	0.53480	0.0:0.824:0.176:0.0	.	666	A1KZ92	PXDNL_HUMAN	K	666	ENSP00000348645:E666K;ENSP00000444865:E666K	ENSP00000348645:E666K	E	-	1	0	PXDNL	52486429	1.000000	0.71417	0.493000	0.27502	0.586000	0.36452	4.068000	0.57534	0.836000	0.34901	0.655000	0.94253	GAG	PXDNL	-	NULL	ENSG00000147485		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	59	0.00	0	C	NM_144651		52323876	52323876	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	1.000	T
PYCRL	65263	genome.wustl.edu	37	8	144687950	144687950	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:144687950C>G	ENST00000220966.6	-	6	810	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000377579.3_Missense_Mutation_p.E112Q|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	249					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)	p.L248_A256delLEQGGLRAA(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	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)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CCGCCCTGCTCCAGGGCGTGG	0.677																																						dbGAP											1	Deletion - In frame(1)	ovary(1)											43.0	46.0	45.0					8																	144687950		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.781G>C	8.37:g.144687950C>G	ENSP00000220966:p.Glu261Gln		B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.E261Q	ENST00000220966.6	37	c.781	CCDS6407.2	8	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499787	0.85176	.	.	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	D;D;D	0.86694	-2.16;-2.16;-2.16	5.0	5.0	0.66597	6-phosphogluconate dehydrogenase, C-terminal-like (1);	.	.	.	.	D	0.94016	0.8083	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.94956	0.8104	9	0.87932	D	0	.	16.8619	0.86020	0.0:1.0:0.0:0.0	.	261;249	D3DWK4;Q53H96	.;P5CR3_HUMAN	Q	261;112;236	ENSP00000220966:E261Q;ENSP00000366802:E112Q;ENSP00000404493:E236Q	ENSP00000220966:E261Q	E	-	1	0	PYCRL	144759093	1.000000	0.71417	0.996000	0.52242	0.593000	0.36681	5.975000	0.70475	2.336000	0.79503	0.561000	0.74099	GAG	PYCRL	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000104524		0.677	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCRL	HGNC	protein_coding	OTTHUMT00000347081.2	23	0.00	0	C	NM_023078		144687950	144687950	-1	no_errors	ENST00000220966	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	1.000	G
QPCTL	54814	genome.wustl.edu	37	19	46196027	46196027	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:46196027C>G	ENST00000012049.5	+	1	287	c.66C>G	c.(64-66)ctC>ctG	p.L22L	SNRPD2_ENST00000391932.3_5'Flank|QPCTL_ENST00000366382.4_Silent_p.L22L|SNRPD2_ENST00000588301.1_5'Flank|SNRPD2_ENST00000588599.1_5'Flank|SNRPD2_ENST00000585392.1_5'Flank|SNRPD2_ENST00000587579.1_5'Flank|SNRPD2_ENST00000590212.1_5'Flank|SNRPD2_ENST00000587367.1_5'Flank|SNRPD2_ENST00000342669.3_5'Flank	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	22					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TGGAGCCACTCTTGCCGCCGA	0.701																																						dbGAP											0													11.0	12.0	12.0					19																	46196027		2182	4254	6436	-	-	-	SO:0001819	synonymous_variant	0			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.66C>G	19.37:g.46196027C>G			Q53HE4|Q96F74	Silent	SNP	pfam_Peptidase_M28	p.L22	ENST00000012049.5	37	c.66	CCDS12672.1	19																																																																																			QPCTL	-	NULL	ENSG00000011478		0.701	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	20	0.00	0	C	NM_017659		46196027	46196027	+1	no_errors	ENST00000012049	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	0.005	G
RAB3B	5865	genome.wustl.edu	37	1	52399020	52399020	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:52399020C>T	ENST00000371655.3	-	4	654	c.442G>A	c.(442-444)Gag>Aag	p.E148K		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	148					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TGGCCCTTCTCAGTGGGAACA	0.488																																						dbGAP											0													191.0	146.0	161.0					1																	52399020		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.442G>A	1.37:g.52399020C>T	ENSP00000360718:p.Glu148Lys		Q5VUL2|Q9BSI1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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.E148K	ENST00000371655.3	37	c.442	CCDS560.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860579	0.91433	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.78126	-1.15	5.15	5.15	0.70609	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	M	0.69823	2.125	0.80722	D	1	P	0.46784	0.884	P	0.54629	0.757	D	0.86231	0.1637	10	0.62326	D	0.03	.	18.4044	0.90529	0.0:1.0:0.0:0.0	.	148	P20337	RAB3B_HUMAN	K	148	ENSP00000360718:E148K	ENSP00000360718:E148K	E	-	1	0	RAB3B	52171608	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.395000	0.79876	2.692000	0.91855	0.655000	0.94253	GAG	RAB3B	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000169213		0.488	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3B	HGNC	protein_coding	OTTHUMT00000023816.1	54	0.00	0	C	NM_002867		52399020	52399020	-1	no_errors	ENST00000371655	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	T
RAD54B	25788	genome.wustl.edu	37	8	95419752	95419752	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:95419752G>A	ENST00000336148.5	-	5	820	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	232					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAACACTTTTGAAAGGGTTAG	0.403								Direct reversal of damage;Homologous recombination																														dbGAP											0													84.0	84.0	84.0					8																	95419752		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.696C>T	8.37:g.95419752G>A			F6WBS8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F232	ENST00000336148.5	37	c.696	CCDS6262.1	8																																																																																			RAD54B	-	NULL	ENSG00000197275		0.403	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	47	0.00	0	G	NM_012415		95419752	95419752	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	silent	68	13.75	11	SNP	0.427	A
RAD54B	25788	genome.wustl.edu	37	8	95419786	95419786	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:95419786G>C	ENST00000336148.5	-	5	786	c.662C>G	c.(661-663)tCt>tGt	p.S221C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	221					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGCAACCTGAGAAGAATGCGA	0.413								Direct reversal of damage;Homologous recombination																														dbGAP											0													110.0	108.0	109.0					8																	95419786		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.662C>G	8.37:g.95419786G>C	ENSP00000336606:p.Ser221Cys		F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S221C	ENST00000336148.5	37	c.662	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377084	0.24857	.	.	ENSG00000197275	ENST00000336148	D	0.89552	-2.53	5.1	3.29	0.37713	.	0.674213	0.15463	N	0.261005	D	0.82949	0.5148	L	0.43152	1.355	0.80722	D	1	B	0.16396	0.017	B	0.09377	0.004	T	0.76187	-0.3051	10	0.56958	D	0.05	-19.3614	6.8335	0.23923	0.153:0.1457:0.7012:0.0	.	221	Q9Y620	RA54B_HUMAN	C	221	ENSP00000336606:S221C	ENSP00000336606:S221C	S	-	2	0	RAD54B	95488962	1.000000	0.71417	0.988000	0.46212	0.442000	0.32017	1.791000	0.38744	0.545000	0.28902	0.650000	0.86243	TCT	RAD54B	-	NULL	ENSG00000197275		0.413	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	68	0.00	0	G	NM_012415		95419786	95419786	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	missense	61	25.30	21	SNP	0.926	C
RALGAPA1	253959	genome.wustl.edu	37	14	36147276	36147276	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:36147276G>C	ENST00000389698.3	-	21	3376	c.2986C>G	c.(2986-2988)Ctg>Gtg	p.L996V	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1043V|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1009V|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L996V	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	996					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGGAGCCCAGAGGTGAGTGG	0.418																																						dbGAP											0													80.0	78.0	79.0					14																	36147276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2986C>G	14.37:g.36147276G>C	ENSP00000374348:p.Leu996Val		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L1043V	ENST00000389698.3	37	c.3127	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	9.776	1.174127	0.21704	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.38	2.59	0.31030	.	0.262826	0.33161	N	0.005202	T	0.51432	0.1674	N	0.19112	0.55	0.25841	N	0.984055	P;P;P;P;B	0.46656	0.729;0.61;0.882;0.545;0.358	B;B;B;B;B	0.44133	0.269;0.138;0.442;0.196;0.044	T	0.42999	-0.9418	10	0.17369	T	0.5	-4.7139	6.1885	0.20510	0.2129:0.0:0.6561:0.131	.	1043;1009;1043;996;996	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	V	996;996;996;1043;1009;1043	ENSP00000374348:L996V;ENSP00000302647:L996V;ENSP00000258840:L1043V;ENSP00000371803:L1009V;ENSP00000451877:L1043V	ENSP00000258840:L1043V	L	-	1	2	RALGAPA1	35217027	0.994000	0.37717	0.961000	0.40146	0.989000	0.77384	0.468000	0.22051	0.269000	0.21961	0.591000	0.81541	CTG	RALGAPA1	-	NULL	ENSG00000174373		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	66	0.00	0	G	XM_210022		36147276	36147276	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	0.991	C
RARA	5914	genome.wustl.edu	37	17	38506062	38506062	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:38506062G>A	ENST00000254066.5	+	4	809	c.354G>A	c.(352-354)aaG>aaA	p.K118K	RARA_ENST00000394086.3_Silent_p.K134K|RARA_ENST00000394089.2_Silent_p.K118K|RARA_ENST00000425707.3_Intron|RARA_ENST00000394081.3_Silent_p.K113K	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	118					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCATCCAGAAGAACATGGTGT	0.577			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	dbGAP		Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	0													133.0	102.0	113.0					17																	38506062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.354G>A	17.37:g.38506062G>A			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.K118	ENST00000254066.5	37	c.354	CCDS11366.1	17																																																																																			RARA	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000131759		0.577	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARA	HGNC	protein_coding	OTTHUMT00000257136.2	60	0.00	0	G			38506062	38506062	+1	no_errors	ENST00000254066	ensembl	human	known	69_37n	silent	42	27.59	16	SNP	1.000	A
RASA4CP	401331	genome.wustl.edu	37	7	44073784	44073784	+	RNA	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:44073784C>G	ENST00000446874.1	-	0	328									RAS p21 protein activator 4C, pseudogene																		CCTGTCTTCTCTTTTTGGTGG	0.622																																						dbGAP											0																																										-	-	-			0					7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44073784C>G				RNA	SNP	-	NULL	ENST00000446874.1	37	NULL		7																																																																																			RASA4CP	-	-	ENSG00000228903		0.622	RASA4CP-003	KNOWN	basic	processed_transcript	RASA4CP	HGNC	pseudogene	OTTHUMT00000339613.1	53	0.00	0	C	NR_024116		44073784	44073784	-1	no_errors	ENST00000425524	ensembl	human	known	69_37n	rna	35	36.84	21	SNP	1.000	G
RASEF	158158	genome.wustl.edu	37	9	85615118	85615118	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:85615118C>G	ENST00000376447.3	-	12	1949	c.1689G>C	c.(1687-1689)aaG>aaC	p.K563N		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	563					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAAATTCATTCTTGCAAAGTC	0.428																																						dbGAP											0													111.0	109.0	109.0					9																	85615118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1689G>C	9.37:g.85615118C>G	ENSP00000365630:p.Lys563Asn		A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K563N	ENST00000376447.3	37	c.1689	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040128	0.75732	.	.	ENSG00000165105	ENST00000376447	T	0.77620	-1.11	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.77958	-0.2392	10	0.66056	D	0.02	.	10.5818	0.45259	0.0:0.857:0.0:0.143	.	563	Q8IZ41	RASEF_HUMAN	N	563	ENSP00000365630:K563N	ENSP00000365630:K563N	K	-	3	2	RASEF	84804938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.455000	0.44988	2.873000	0.98535	0.563000	0.77884	AAG	RASEF	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000165105		0.428	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	95	0.00	0	C	NM_152573		85615118	85615118	-1	no_errors	ENST00000376447	ensembl	human	known	69_37n	missense	53	27.40	20	SNP	1.000	G
RBAK	57786	genome.wustl.edu	37	7	5104349	5104349	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:5104349G>C	ENST00000353796.3	+	6	1586	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	RBAK_ENST00000396912.1_Missense_Mutation_p.R421T|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	421	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACACATCAGAGAACACACACG	0.423																																						dbGAP											0													58.0	56.0	57.0					7																	5104349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1262G>C	7.37:g.5104349G>C	ENSP00000275423:p.Arg421Thr		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	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.R421T	ENST00000353796.3	37	c.1262	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158012	0.57368	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.25414	1.8;1.8	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000105	T	0.47581	0.1453	M	0.81802	2.56	0.39786	D	0.972362	D	0.76494	0.999	D	0.85130	0.997	T	0.60762	-0.7199	8	.	.	.	.	7.38	0.26849	0.1181:0.0:0.8819:0.0	.	421	Q9NYW8	RBAK_HUMAN	T	421	ENSP00000275423:R421T;ENSP00000380120:R421T	.	R	+	2	0	RBAK	5070875	0.992000	0.36948	0.999000	0.59377	0.794000	0.44872	3.179000	0.50887	2.386000	0.81285	0.555000	0.69702	AGA	RBAK	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000146587		0.423	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	31	0.00	0	G	NM_021163		5104349	5104349	+1	no_errors	ENST00000353796	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	0.990	C
RBFOX2	23543	genome.wustl.edu	37	22	36205855	36205855	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:36205855G>A	ENST00000438146.2	-	3	433	c.434C>T	c.(433-435)tCa>tTa	p.S145L	RBFOX2_ENST00000414461.2_Missense_Mutation_p.S75L|RBFOX2_ENST00000416721.2_Missense_Mutation_p.S75L|RBFOX2_ENST00000397303.2_Missense_Mutation_p.S55L|RBFOX2_ENST00000262829.7_Missense_Mutation_p.S75L|RBFOX2_ENST00000359369.4_Missense_Mutation_p.S55L|RBFOX2_ENST00000405409.2_Missense_Mutation_p.S75L|RBFOX2_ENST00000449924.2_Missense_Mutation_p.S75L	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	85	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						TGTGCTGGGTGAGTTGCTGCT	0.498																																						dbGAP											0													369.0	320.0	337.0					22																	36205855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.434C>T	22.37:g.36205855G>A	ENSP00000413035:p.Ser145Leu		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.S145L	ENST00000438146.2	37	c.434	CCDS43013.1	22	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480910	0.63849	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T	0.54071	1.43;1.24;0.67;0.92;1.34;0.93;0.59;1.67	5.53	5.53	0.82687	.	0.538685	0.18191	N	0.148818	T	0.39279	0.1072	N	0.08118	0	0.35871	D	0.828214	B;B;B;B;B;B;B;B;B;B	0.31383	0.049;0.032;0.034;0.015;0.001;0.034;0.321;0.015;0.032;0.129	B;B;B;B;B;B;B;B;B;B	0.31946	0.026;0.017;0.015;0.015;0.01;0.04;0.138;0.02;0.038;0.071	T	0.53486	-0.8432	10	0.87932	D	0	.	19.4633	0.94927	0.0:0.0:1.0:0.0	.	55;85;145;145;75;75;75;75;75;55	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	L	75;85;75;75;75;55;55;75;145;97;55	ENSP00000384944:S75L;ENSP00000407855:S75L;ENSP00000391670:S75L;ENSP00000380470:S55L;ENSP00000352328:S55L;ENSP00000405651:S75L;ENSP00000413035:S145L;ENSP00000386177:S97L	ENSP00000262829:S75L	S	-	2	0	RBFOX2	34535801	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.743000	0.55104	2.584000	0.87258	0.563000	0.77884	TCA	RBFOX2	-	pirsf_RNA-bd_Fox-1	ENSG00000100320		0.498	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	RBFOX2	HGNC	protein_coding	OTTHUMT00000319299.3	158	0.00	0	G			36205855	36205855	-1	no_errors	ENST00000438146	ensembl	human	known	69_37n	missense	93	22.50	27	SNP	0.995	A
RBM14	10432	genome.wustl.edu	37	11	66392567	66392567	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:66392567C>T	ENST00000310137.4	+	2	1359	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	407	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S407L(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCCAGCCCTCGGCCTCTTAC	0.597																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											69.0	72.0	71.0					11																	66392567		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1220C>T	11.37:g.66392567C>T	ENSP00000311747:p.Ser407Leu		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S407L	ENST00000310137.4	37	c.1220	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119770	0.37436	.	.	ENSG00000239306	ENST00000310137	T	0.81247	-1.47	5.06	5.06	0.68205	.	0.376195	0.27294	N	0.020039	T	0.64316	0.2587	N	0.08118	0	0.80722	D	1	B	0.25772	0.134	B	0.17722	0.019	T	0.65413	-0.6174	10	0.66056	D	0.02	-2.4613	13.7882	0.63123	0.0:1.0:0.0:0.0	.	407	Q96PK6	RBM14_HUMAN	L	407	ENSP00000311747:S407L	ENSP00000311747:S407L	S	+	2	0	RBM14	66149143	0.973000	0.33851	0.999000	0.59377	0.991000	0.79684	3.347000	0.52200	2.638000	0.89438	0.655000	0.94253	TCG	RBM14	-	NULL	ENSG00000239306		0.597	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	21	0.00	0	C	NM_006328		66392567	66392567	+1	no_errors	ENST00000310137	ensembl	human	known	69_37n	missense	11	29.41	5	SNP	0.998	T
RBM28	55131	genome.wustl.edu	37	7	127975934	127975934	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:127975934G>A	ENST00000223073.2	-	7	890	c.776C>T	c.(775-777)tCa>tTa	p.S259L	RBM28_ENST00000415472.2_Missense_Mutation_p.S118L	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	259					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GGTCACCTTTGATTCTATATT	0.413																																						dbGAP											0													312.0	256.0	275.0					7																	127975934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.776C>T	7.37:g.127975934G>A	ENSP00000223073:p.Ser259Leu		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Nonsense_Mutation	SNP	pfam_RRM_dom,pfscan_RRM_dom	p.Q65*	ENST00000223073.2	37	c.193	CCDS5801.1	7	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556221	0.27827	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21543	2.9;2.0;2.08	4.55	3.66	0.41972	.	0.620333	0.16502	N	0.211605	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.003;0.002	T	0.17379	-1.0371	10	0.26408	T	0.33	0.0	7.8199	0.29282	0.1104:0.0:0.8896:0.0	.	118;259	E9PDD9;Q9NW13	.;RBM28_HUMAN	L	259;118;228	ENSP00000223073:S259L;ENSP00000390517:S118L;ENSP00000418071:S228L	ENSP00000223073:S259L	S	-	2	0	RBM28	127763170	0.256000	0.24012	0.010000	0.14722	0.068000	0.16541	2.707000	0.47143	2.516000	0.84829	0.655000	0.94253	TCA	RBM28	-	NULL	ENSG00000106344		0.413	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	HGNC	protein_coding	OTTHUMT00000349442.2	245	0.00	0	G	NM_018077		127975934	127975934	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000487602	ensembl	human	known	69_37n	nonsense	152	24.76	51	SNP	0.005	A
RBM47	54502	genome.wustl.edu	37	4	40440028	40440028	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:40440028C>T	ENST00000381793.2	-	3	1279	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	RBM47_ENST00000381795.6_Missense_Mutation_p.V295M|RBM47_ENST00000295971.7_Missense_Mutation_p.V295M|RBM47_ENST00000319592.4_Missense_Mutation_p.V295M|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.V257M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	295	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGGCATGCACGGCATCCTCG	0.622																																						dbGAP											0													48.0	43.0	45.0					4																	40440028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.883G>A	4.37:g.40440028C>T	ENSP00000371212:p.Val295Met		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.V295M	ENST00000381793.2	37	c.883	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179719	0.38511	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.58	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.109676	0.64402	D	0.000011	T	0.17450	0.0419	L	0.38175	1.15	0.80722	D	1	P;B	0.51147	0.942;0.188	P;B	0.45610	0.487;0.108	T	0.00529	-1.1687	10	0.49607	T	0.09	-24.9539	12.2785	0.54751	0.0:0.8647:0.0:0.1353	.	295;295	A0AV96-2;A0AV96	.;RBM47_HUMAN	M	295;295;295;295;257	ENSP00000320108:V295M;ENSP00000371212:V295M;ENSP00000371214:V295M;ENSP00000295971:V295M;ENSP00000423243:V257M	ENSP00000295971:V295M	V	-	1	0	RBM47	40134785	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	4.677000	0.61634	2.630000	0.89119	0.462000	0.41574	GTG	RBM47	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	14	0.00	0	C	NM_019027		40440028	40440028	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	T
RBM6	10180	genome.wustl.edu	37	3	50103765	50103765	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:50103765C>G	ENST00000266022.4	+	17	3032	c.2773C>G	c.(2773-2775)Ccc>Gcc	p.P925A	RBM6_ENST00000442092.1_Missense_Mutation_p.P403A|RBM6_ENST00000422955.1_Missense_Mutation_p.P403A|RBM6_ENST00000443081.1_Missense_Mutation_p.P793A|RBM6_ENST00000421682.1_5'Flank|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.P267A	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	925					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACAGACCCCTCCCCCACAGCC	0.527																																						dbGAP											0													81.0	88.0	86.0					3																	50103765		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2773C>G	3.37:g.50103765C>G	ENSP00000266022:p.Pro925Ala		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.P925A	ENST00000266022.4	37	c.2773	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569710	0.45798	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.48522	0.81;1.37;1.36;0.86;0.81	6.03	6.03	0.97812	.	0.551958	0.19872	N	0.104162	T	0.37183	0.0994	L	0.34521	1.04	0.40460	D	0.980235	P	0.35844	0.524	B	0.31946	0.138	T	0.16100	-1.0414	9	.	.	.	-9.3823	15.6618	0.77193	0.0:0.9331:0.0:0.0669	.	925	P78332	RBM6_HUMAN	A	403;925;793;267;403	ENSP00000393530:P403A;ENSP00000266022:P925A;ENSP00000396466:P793A;ENSP00000443165:P267A;ENSP00000392939:P403A	.	P	+	1	0	RBM6	50078769	0.940000	0.31905	0.999000	0.59377	0.550000	0.35303	1.877000	0.39598	2.861000	0.98227	0.655000	0.94253	CCC	RBM6	-	NULL	ENSG00000004534		0.527	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	43	0.00	0	C	NM_005777		50103765	50103765	+1	no_errors	ENST00000266022	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	1.000	G
RC3H2	54542	genome.wustl.edu	37	9	125659702	125659702	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:125659702G>A	ENST00000373670.1	-	1	687	c.87C>T	c.(85-87)atC>atT	p.I29I	RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Silent_p.I29I|RC3H2_ENST00000357244.2_Silent_p.I29I|RC3H2_ENST00000423239.2_Silent_p.I29I|RC3H2_ENST00000471874.2_Silent_p.I29I|RC3H2_ENST00000373665.2_Silent_p.I29I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	29					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACCTAAACTGATGGGTTTGT	0.423																																						dbGAP											0													105.0	99.0	101.0					9																	125659702		1918	4121	6039	-	-	-	SO:0001819	synonymous_variant	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.87C>T	9.37:g.125659702G>A			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.I29	ENST00000373670.1	37	c.87	CCDS43874.1	9																																																																																			RC3H2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000056586		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	61	0.00	0	G	NM_018835		125659702	125659702	-1	no_errors	ENST00000357244	ensembl	human	known	69_37n	silent	53	27.40	20	SNP	1.000	A
RCBTB1	55213	genome.wustl.edu	37	13	50129757	50129757	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:50129757G>C	ENST00000378302.2	-	6	757	c.497C>G	c.(496-498)gCa>gGa	p.A166G	RCBTB1_ENST00000258646.3_Missense_Mutation_p.A166G|RCBTB1_ENST00000546015.1_Missense_Mutation_p.A166G	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	166					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGGTTGATTTGCTGTAGAACC	0.413																																						dbGAP											0													150.0	129.0	136.0					13																	50129757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.497C>G	13.37:g.50129757G>C	ENSP00000367552:p.Ala166Gly		Q8IY29|Q969U9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_Reg_chr_condens,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.A166G	ENST00000378302.2	37	c.497	CCDS9418.1	13	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591102	0.86851	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.84800	-1.9;-1.9;-1.9	5.22	5.22	0.72569	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.046781	0.85682	D	0.000000	D	0.85013	0.5600	N	0.13003	0.285	0.80722	D	1	P	0.49862	0.929	P	0.61328	0.887	D	0.83707	0.0185	10	0.27082	T	0.32	-10.2475	19.1538	0.93502	0.0:0.0:1.0:0.0	.	166	Q8NDN9	RCBT1_HUMAN	G	166	ENSP00000258646:A166G;ENSP00000367552:A166G;ENSP00000443293:A166G	ENSP00000258646:A166G	A	-	2	0	RCBTB1	49027758	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.652000	0.83633	2.597000	0.87782	0.655000	0.94253	GCA	RCBTB1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000136144		0.413	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB1	HGNC	protein_coding	OTTHUMT00000044912.2	78	0.00	0	G	NM_018191		50129757	50129757	-1	no_errors	ENST00000258646	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	1.000	C
RCHY1	25898	genome.wustl.edu	37	4	76439444	76439444	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:76439444C>T	ENST00000324439.5	-	1	451	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	THAP6_ENST00000380837.3_5'Flank|THAP6_ENST00000311638.3_5'Flank|RCHY1_ENST00000512706.1_Intron|THAP6_ENST00000514480.1_5'Flank|RCHY1_ENST00000380840.2_Missense_Mutation_p.R18Q|THAP6_ENST00000507556.1_5'Flank|RCHY1_ENST00000451788.1_Missense_Mutation_p.R18Q|THAP6_ENST00000507885.1_5'Flank|THAP6_ENST00000507557.1_5'Flank|RCHY1_ENST00000514021.1_Intron|THAP6_ENST00000508105.1_5'Flank|THAP6_ENST00000502620.1_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.R18Q|THAP6_ENST00000504190.1_5'Flank	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	18					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTCGCAGCCCCGCTGACCTCG	0.622																																						dbGAP											0													96.0	83.0	87.0					4																	76439444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.53G>A	4.37:g.76439444C>T	ENSP00000321239:p.Arg18Gln		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R18Q	ENST00000324439.5	37	c.53	CCDS3567.1	4	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400746	0.62177	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000513257;ENST00000507014	T;T	0.32753	1.58;1.44	4.74	4.74	0.60224	Zinc finger, CHY-type (1);	0.301150	0.31020	N	0.008417	T	0.47229	0.1434	L	0.50333	1.59	0.80722	D	1	D;D;D;B;B	0.71674	0.998;0.988;0.993;0.004;0.003	D;D;D;B;B	0.72982	0.979;0.919;0.963;0.001;0.003	T	0.32455	-0.9906	10	0.42905	T	0.14	-28.1331	13.1014	0.59222	0.0:1.0:0.0:0.0	.	18;18;18;18;18	E7EMC8;Q2KN33;Q96PM5-2;Q96PM5;G3FDP4	.;.;.;ZN363_HUMAN;.	Q	18	ENSP00000321239:R18Q;ENSP00000370220:R18Q	ENSP00000321239:R18Q	R	-	2	0	RCHY1	76658468	0.993000	0.37304	0.999000	0.59377	0.894000	0.52154	1.828000	0.39111	2.452000	0.82932	0.555000	0.69702	CGG	RCHY1	-	NULL	ENSG00000163743		0.622	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2	63	0.00	0	C	NM_015436		76439444	76439444	-1	no_errors	ENST00000324439	ensembl	human	known	69_37n	missense	23	40.00	16	SNP	0.998	T
RELN	5649	genome.wustl.edu	37	7	103113290	103113290	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:103113290C>T	ENST00000428762.1	-	65	10511	c.10352G>A	c.(10351-10353)aGa>aAa	p.R3451K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.R3451K|RELN_ENST00000343529.5_Missense_Mutation_p.R3449K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3451	Arg-rich (basic).				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCGTCTTCTGTTGTAGAA	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													175.0	163.0	167.0					7																	103113290		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10352G>A	7.37:g.103113290C>T	ENSP00000392423:p.Arg3451Lys		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.R3451K	ENST00000428762.1	37	c.10352	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819458	0.90873	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828	D;D;D	0.92752	-3.1;-3.1;-3.1	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93406	0.7897	L	0.29908	0.895	0.51767	D	0.99993	B;P	0.52842	0.185;0.956	B;D	0.65010	0.034;0.931	D	0.92850	0.6296	10	0.42905	T	0.14	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	3449;3451	P78509-2;P78509	.;RELN_HUMAN	K	3451;3449;3451;968	ENSP00000392423:R3451K;ENSP00000345694:R3449K;ENSP00000388446:R3451K	ENSP00000345694:R3449K	R	-	2	0	RELN	102900526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.220000	0.72237	2.719000	0.93026	0.655000	0.94253	AGA	RELN	-	NULL	ENSG00000189056		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	148	0.00	0	C	NM_005045		103113290	103113290	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	116	25.16	39	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103155815	103155815	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:103155815C>T	ENST00000428762.1	-	50	8095	c.7936G>A	c.(7936-7938)Gac>Aac	p.D2646N	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.D2646N|RELN_ENST00000343529.5_Missense_Mutation_p.D2646N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2646					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGGCCGTCATGTCTTGGC	0.527																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													54.0	49.0	51.0					7																	103155815		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7936G>A	7.37:g.103155815C>T	ENSP00000392423:p.Asp2646Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D2646N	ENST00000428762.1	37	c.7936	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590712	0.86851	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25085	1.82;1.83;1.82	5.12	5.12	0.69794	Neuraminidase (2);	0.151753	0.56097	D	0.000028	T	0.23611	0.0571	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.31859	0.068;0.343	B;B	0.35931	0.136;0.214	T	0.03524	-1.1028	10	0.32370	T	0.25	.	18.75	0.91810	0.0:1.0:0.0:0.0	.	2646;2646	P78509-2;P78509	.;RELN_HUMAN	N	2646;2646;2646;163;2646	ENSP00000392423:D2646N;ENSP00000345694:D2646N;ENSP00000388446:D2646N	ENSP00000345694:D2646N	D	-	1	0	RELN	102943051	1.000000	0.71417	0.510000	0.27712	0.949000	0.60115	7.276000	0.78559	2.647000	0.89833	0.643000	0.83706	GAC	RELN	-	superfamily_Neuraminidase	ENSG00000189056		0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	21	0.00	0	C	NM_005045		103155815	103155815	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	T
RFX3	5991	genome.wustl.edu	37	9	3275544	3275544	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:3275544C>T	ENST00000382004.3	-	10	1353	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	RFX3_ENST00000302303.1_Missense_Mutation_p.E348K|RFX3_ENST00000358730.2_Missense_Mutation_p.E348K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	348					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTGATATCCTCAAAGGTAGTA	0.413																																						dbGAP											0													123.0	116.0	118.0					9																	3275544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1042G>A	9.37:g.3275544C>T	ENSP00000371434:p.Glu348Lys		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.E348K	ENST00000382004.3	37	c.1042	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917979	0.73098	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.62105	0.08;0.05;0.05	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	L	0.60455	1.87	0.80722	D	1	P;B;B	0.49862	0.929;0.338;0.399	P;B;B	0.53549	0.729;0.187;0.101	T	0.66795	-0.5833	10	0.31617	T	0.26	-14.2904	20.1356	0.98028	0.0:1.0:0.0:0.0	.	348;348;348	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	K	348	ENSP00000371434:E348K;ENSP00000351574:E348K;ENSP00000303847:E348K	ENSP00000303847:E348K	E	-	1	0	RFX3	3265544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.079000	0.71291	2.755000	0.94549	0.650000	0.86243	GAG	RFX3	-	NULL	ENSG00000080298		0.413	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	95	0.00	0	C	NM_002919		3275544	3275544	-1	no_errors	ENST00000382004	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	1.000	T
RGS6	9628	genome.wustl.edu	37	14	72985156	72985156	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:72985156C>G	ENST00000553530.1	+	15	1396	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A	RGS6_ENST00000556437.1_Missense_Mutation_p.P397A|RGS6_ENST00000434263.2_Missense_Mutation_p.P328A|RGS6_ENST00000553525.1_Missense_Mutation_p.P397A|RGS6_ENST00000343854.6_Missense_Mutation_p.P360A|RGS6_ENST00000404301.2_Missense_Mutation_p.P397A|RGS6_ENST00000554782.1_Missense_Mutation_p.P258A|RGS6_ENST00000402788.2_Missense_Mutation_p.P397A|RGS6_ENST00000555571.1_Missense_Mutation_p.P397A|RGS6_ENST00000355512.6_Missense_Mutation_p.P397A|RGS6_ENST00000406236.4_Missense_Mutation_p.P397A|RGS6_ENST00000407322.4_Missense_Mutation_p.P397A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	397	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCCAGGGGCTCCAAGTGCAAT	0.473																																					Ovarian(143;1926 2468 21071 48641)	dbGAP											0													75.0	75.0	75.0					14																	72985156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1189C>G	14.37:g.72985156C>G	ENSP00000452331:p.Pro397Ala		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P397A	ENST00000553530.1	37	c.1189	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822830	0.50739	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.41	5.41	0.78517	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.147724	0.64402	D	0.000007	T	0.45935	0.1367	M	0.71206	2.165	0.58432	D	0.999999	P;B;B;B	0.43885	0.82;0.0;0.279;0.0	B;B;B;B	0.43950	0.437;0.004;0.176;0.003	T	0.40021	-0.9585	10	0.37606	T	0.19	-12.8109	18.5543	0.91077	0.0:1.0:0.0:0.0	.	328;397;402;397	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	A	397;397;397;397;397;397;397;397;397;360;369;328;258;258	ENSP00000451030:P397A;ENSP00000450936:P397A;ENSP00000452331:P397A;ENSP00000451855:P397A;ENSP00000347699:P397A;ENSP00000385243:P397A;ENSP00000384218:P397A;ENSP00000384612:P397A;ENSP00000383953:P397A;ENSP00000341199:P360A;ENSP00000412144:P328A;ENSP00000451912:P258A	ENSP00000341199:P360A	P	+	1	0	RGS6	72054909	0.997000	0.39634	0.998000	0.56505	0.995000	0.86356	7.713000	0.84693	2.704000	0.92352	0.561000	0.74099	CCA	RGS6	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000182732		0.473	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	60	0.00	0	C			72985156	72985156	+1	no_errors	ENST00000553525	ensembl	human	known	69_37n	missense	48	14.04	8	SNP	1.000	G
RHOA	387	genome.wustl.edu	37	3	49412973	49412973	+	Missense_Mutation	SNP	C	C	G	rs11552761		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:49412973C>G	ENST00000418115.1	-	2	434	c.50G>C	c.(49-51)gGa>gCa	p.G17A	RHOA_ENST00000422781.1_Missense_Mutation_p.G17A|RHOA_ENST00000454011.2_Missense_Mutation_p.G17A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	17					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.G17V(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCATGTCTTTCCACAGGCTCC	0.473																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											140.0	126.0	130.0					3																	49412973		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.50G>C	3.37:g.49412973C>G	ENSP00000400175:p.Gly17Ala		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G17A	ENST00000418115.1	37	c.50	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038764	0.93630	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	H	0.97852	4.09	0.80722	D	1	B	0.23735	0.09	P	0.45610	0.487	D	0.98010	1.0365	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	17	P61586	RHOA_HUMAN	A	17	ENSP00000400175:G17A;ENSP00000394483:G17A;ENSP00000413587:G17A;ENSP00000408402:G17A;ENSP00000400747:G17A	ENSP00000400175:G17A	G	-	2	0	RHOA	49387977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.652000	0.83633	2.809000	0.96659	0.558000	0.71614	GGA	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	55	0.00	0	C	NM_001664		49412973	49412973	-1	no_errors	ENST00000418115	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	1.000	G
RHOF	54509	genome.wustl.edu	37	12	122217526	122217526	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:122217526C>G	ENST00000267205.2	-	5	1142	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	RHOF_ENST00000537265.1_Missense_Mutation_p.E72Q|TMEM120B_ENST00000538055.1_3'UTR|TMEM120B_ENST00000449592.2_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	172					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GCGGAACATTCCAGGTAGAGA	0.632																																						dbGAP											0													67.0	69.0	68.0					12																	122217526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.514G>C	12.37:g.122217526C>G	ENSP00000267205:p.Glu172Gln		Q8WVB1|Q9NXH6	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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.E172Q	ENST00000267205.2	37	c.514	CCDS9222.1	12	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044869	0.93685	.	.	ENSG00000139725	ENST00000267205	D	0.82984	-1.67	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93950	0.7231	10	0.87932	D	0	.	16.8125	0.85724	0.0:1.0:0.0:0.0	.	172	Q9HBH0	RHOF_HUMAN	Q	172	ENSP00000267205:E172Q	ENSP00000267205:E172Q	E	-	1	0	RHOF	120701909	1.000000	0.71417	0.994000	0.49952	0.845000	0.48019	7.372000	0.79612	2.243000	0.73865	0.655000	0.94253	GAA	RHOF	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000139725		0.632	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOF	HGNC	protein_coding	OTTHUMT00000402165.1	41	0.00	0	C			122217526	122217526	-1	no_errors	ENST00000267205	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	G
RHOJ	57381	genome.wustl.edu	37	14	63757637	63757637	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:63757637G>A	ENST00000316754.3	+	5	1002	c.540G>A	c.(538-540)caG>caA	p.Q180Q		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	180					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTCTGACTCAGAAAGGTCTCA	0.423																																						dbGAP											0													133.0	131.0	132.0					14																	63757637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.540G>A	14.37:g.63757637G>A			Q96KC1	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q180	ENST00000316754.3	37	c.540	CCDS9757.1	14																																																																																			RHOJ	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000126785		0.423	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	104	0.00	0	G			63757637	63757637	+1	no_errors	ENST00000316754	ensembl	human	known	69_37n	silent	70	13.25	11	SNP	1.000	A
RIC3	79608	genome.wustl.edu	37	11	8148248	8148248	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:8148248C>G	ENST00000309737.6	-	5	627	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	RIC3_ENST00000343202.4_Missense_Mutation_p.E209Q|RIC3_ENST00000539720.1_Missense_Mutation_p.E161Q|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000396677.2_Missense_Mutation_p.E48Q			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	210					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCTTCTTTCTCTGGAGAAAAT	0.443																																						dbGAP											0													120.0	111.0	114.0					11																	8148248		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.628G>C	11.37:g.8148248C>G	ENSP00000308820:p.Glu210Gln		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	NULL	p.E210Q	ENST00000309737.6	37	c.628	CCDS55742.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953738	0.73902	.	.	ENSG00000166405	ENST00000396677;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000531450	T;T;T;T	0.58060	0.42;0.42;0.47;0.36	5.66	4.76	0.60689	.	0.178980	0.42172	D	0.000759	T	0.72676	0.3490	M	0.77103	2.36	0.46981	D	0.999271	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.952	T	0.76895	-0.2790	10	0.66056	D	0.02	.	14.7885	0.69821	0.0:0.9309:0.0:0.0691	.	238;210;209;48	B7Z1U4;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;RIC3_HUMAN;.;.	Q	48;209;210;238;161;238	ENSP00000344904:E209Q;ENSP00000308820:E210Q;ENSP00000443871:E161Q;ENSP00000431658:E238Q	ENSP00000308820:E210Q	E	-	1	0	RIC3	8104824	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.677000	0.68142	1.539000	0.49286	0.655000	0.94253	GAG	RIC3	-	NULL	ENSG00000166405		0.443	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	100	0.00	0	C	NM_024557		8148248	8148248	-1	no_errors	ENST00000309737	ensembl	human	known	69_37n	missense	114	10.94	14	SNP	1.000	G
RNF168	165918	genome.wustl.edu	37	3	196199186	196199186	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:196199186C>G	ENST00000318037.3	-	6	1814	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	407					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CACTTTTCTTCTTTTTGCAGA	0.388																																						dbGAP											0													121.0	118.0	119.0					3																	196199186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1220G>C	3.37:g.196199186C>G	ENSP00000320898:p.Arg407Thr		Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R407T	ENST00000318037.3	37	c.1220	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476095	0.44044	.	.	ENSG00000163961	ENST00000318037	T	0.12672	2.66	6.08	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.29684	0.0741	M	0.76574	2.34	0.33800	D	0.626535	D	0.63880	0.993	P	0.58520	0.84	T	0.49360	-0.8948	10	0.87932	D	0	-16.4019	9.3703	0.38250	0.0:0.7847:0.0:0.2153	.	407	Q8IYW5	RN168_HUMAN	T	407	ENSP00000320898:R407T	ENSP00000320898:R407T	R	-	2	0	RNF168	197683583	1.000000	0.71417	0.988000	0.46212	0.115000	0.19883	1.470000	0.35354	1.575000	0.49775	0.591000	0.81541	AGA	RNF168	-	NULL	ENSG00000163961		0.388	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	95	0.00	0	C	NM_152617		196199186	196199186	-1	no_errors	ENST00000318037	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	0.999	G
RNF168	165918	genome.wustl.edu	37	3	196210659	196210662	+	Frame_Shift_Del	DEL	TTTC	TTTC	-	rs371453745		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:196210659_196210662delTTTC	ENST00000318037.3	-	4	1253_1256	c.659_662delGAAA	c.(658-663)agaaacfs	p.RN220fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	220					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATCTCCAGTGTTTCTTTGTTTGTT	0.368																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.659_662delGAAA	3.37:g.196210659_196210662delTTTC	ENSP00000320898:p.Arg220fs		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R220fs	ENST00000318037.3	37	c.662_659	CCDS3317.1	3																																																																																			RNF168	-	NULL	ENSG00000163961		0.368	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	127	0.00	0	TTTC	NM_152617		196210659	196210662	-1	no_errors	ENST00000318037	ensembl	human	known	69_37n	frame_shift_del	97	20.33	25	DEL	0.000:0.000:0.000:0.001	-
RNF213	57674	genome.wustl.edu	37	17	78280205	78280205	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:78280205C>T	ENST00000582970.1	+	12	2507	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	RNF213_ENST00000508628.2_Silent_p.I837I|RNF213_ENST00000456466.1_Silent_p.I788I|RNF213_ENST00000319921.4_Silent_p.I788I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	788					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCTCATATCCTGGACTGTC	0.498																																						dbGAP											0													114.0	105.0	108.0					17																	78280205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2364C>T	17.37:g.78280205C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I788	ENST00000582970.1	37	c.2364	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	92	0.00	0	C	NM_020914		78280205	78280205	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	66	29.79	28	SNP	0.782	T
RNF219	79596	genome.wustl.edu	37	13	79209249	79209249	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:79209249G>C	ENST00000282003.6	-	5	692	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	212							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACATACTTTTGAGGTGATCTG	0.348																																						dbGAP											0													118.0	117.0	117.0					13																	79209249		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.634C>G	13.37:g.79209249G>C	ENSP00000282003:p.Gln212Glu		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.Q212E	ENST00000282003.6	37	c.634	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817920	0.90790	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.77151	-0.2693	9	0.54805	T	0.06	.	20.4082	0.99013	0.0:0.0:1.0:0.0	.	212	Q5W0B1	RN219_HUMAN	E	212	.	ENSP00000282003:Q212E	Q	-	1	0	RNF219	78107250	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	9.112000	0.94314	2.814000	0.96858	0.655000	0.94253	CAA	RNF219	-	NULL	ENSG00000152193		0.348	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	134	0.00	0	G	NM_024546		79209249	79209249	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	missense	92	22.50	27	SNP	1.000	C
RNF34	80196	genome.wustl.edu	37	12	121858105	121858105	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:121858105G>A	ENST00000392464.2	+	4	763	c.694G>A	c.(694-696)Gat>Aat	p.D232N	RNF34_ENST00000361234.5_Missense_Mutation_p.D232N|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Missense_Mutation_p.D233N					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		tgatgaggatgatgatgatga	0.443																																						dbGAP											0													81.0	69.0	73.0					12																	121858105		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.694G>A	12.37:g.121858105G>A	ENSP00000376257:p.Asp232Asn			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.D233N	ENST00000392464.2	37	c.697		12	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866154	0.32977	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000392464;ENST00000354795	T;T;T	0.30448	1.85;1.85;1.53	3.56	3.56	0.40772	.	0.719703	0.13858	N	0.357898	T	0.18923	0.0454	N	0.19112	0.55	0.47065	D	0.999303	B;B	0.24823	0.112;0.082	B;B	0.21708	0.024;0.036	T	0.05321	-1.0892	10	0.20046	T	0.44	-17.9319	10.9462	0.47301	0.0:0.0:1.0:0.0	.	232;233	Q969K3;Q969K3-2	RNF34_HUMAN;.	N	232;233;232;233	ENSP00000355137:D232N;ENSP00000376258:D233N;ENSP00000376257:D232N	ENSP00000346850:D233N	D	+	1	0	RNF34	120342488	0.796000	0.28864	0.027000	0.17364	0.001000	0.01503	2.661000	0.46758	2.272000	0.75746	0.561000	0.74099	GAT	RNF34	-	NULL	ENSG00000170633		0.443	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	RNF34	HGNC	protein_coding	OTTHUMT00000413892.1	48	0.00	0	G	NM_194271		121858105	121858105	+1	no_errors	ENST00000392465	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	0.047	A
RNLS	55328	genome.wustl.edu	37	10	90332723	90332723	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:90332723C>T	ENST00000331772.4	-	4	485	c.463G>A	c.(463-465)Gat>Aat	p.D155N	RNLS_ENST00000466945.1_Intron|RNLS_ENST00000371947.3_Missense_Mutation_p.D155N|RNLS_ENST00000437752.1_Missense_Mutation_p.D72N	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	155					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						ACAATAAGATCAAACTGCTCA	0.458																																						dbGAP											0													202.0	178.0	186.0					10																	90332723		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.463G>A	10.37:g.90332723C>T	ENSP00000332530:p.Asp155Asn		Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.D155N	ENST00000331772.4	37	c.463	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893641	0.91889	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.96856	-4.15;0.81;-4.15	5.87	5.87	0.94306	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.952;0.92	D	0.98168	1.0450	10	0.54805	T	0.06	.	18.9748	0.92731	0.0:1.0:0.0:0.0	.	72;155;155	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	N	155;72;155	ENSP00000361015:D155N;ENSP00000387577:D72N;ENSP00000332530:D155N	ENSP00000332530:D155N	D	-	1	0	RNLS	90322703	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.870000	0.69620	2.779000	0.95612	0.655000	0.94253	GAT	RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.458	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	68	0.00	0	C	NM_018363		90332723	90332723	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	missense	60	23.75	19	SNP	1.000	T
RNMT	8731	genome.wustl.edu	37	18	13742650	13742650	+	Splice_Site	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:13742650G>A	ENST00000383314.2	+	8	1378	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	RNMT_ENST00000535051.1_Splice_Site_p.E138K|RNMT_ENST00000589866.1_Splice_Site_p.E380K|RNMT_ENST00000543302.2_Splice_Site_p.E380K|RNMT_ENST00000592764.1_Splice_Site_p.E380K|RNMT_ENST00000262173.3_Splice_Site_p.E380K			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	380	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATTGCTAAATGAGTAAGAAGT	0.333																																					GBM(29;474 594 19092 36647 41529)	dbGAP											0													151.0	143.0	146.0					18																	13742650		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1139+1G>A	18.37:g.13742650G>A			B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_Pox_MCEL,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E380K	ENST00000383314.2	37	c.1138	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	8.590	0.884395	0.17467	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.63	4.74	0.60224	.	0.138031	0.64402	D	0.000004	T	0.37598	0.1009	N	0.12527	0.23	0.58432	D	0.999997	B;B	0.25521	0.128;0.025	B;B	0.25506	0.061;0.051	T	0.27673	-1.0067	9	0.06365	T	0.9	-28.1933	16.7191	0.85405	0.0:0.1295:0.8705:0.0	.	380;380	O43148-2;O43148	.;MCES_HUMAN	K	380;138;380;380	.	ENSP00000262173:E380K	E	+	1	0	RNMT	13732650	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.548000	0.67255	1.477000	0.48234	0.591000	0.81541	GAA	RNMT	-	pfam_Pox_MCEL,pirsf_mRNA_G-N7_MeTrfase	ENSG00000101654		0.333	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	154	0.00	0	G	NM_003799	Missense_Mutation	13742650	13742650	+1	no_errors	ENST00000262173	ensembl	human	known	69_37n	missense	95	29.63	40	SNP	1.000	A
AVL9	23080	genome.wustl.edu	37	7	32956881	32956881	+	Intron	SNP	A	A	G	rs116875310	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:32956881A>G	ENST00000404479.1	+	11	1215				RP9P_ENST00000381639.3_RNA			Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)						cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.V84A(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTATCCTGCTACTTTCTCTGA	0.507																																						dbGAP											3	Substitution - Missense(3)	kidney(2)|urinary_tract(1)																																								-	-	-	SO:0001627	intron_variant	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000404479.1:c.1216-112341A>G	7.37:g.32956881A>G			Q92573	RNA	SNP	-	NULL	ENST00000404479.1	37	NULL		7																																																																																			RP9P	-	-	ENSG00000205763		0.507	AVL9-201	KNOWN	basic	protein_coding	RP9P	HGNC	protein_coding		32	0.00	0	A	NM_015060		32956881	32956881	-1	no_errors	ENST00000381639	ensembl	human	known	69_37n	rna	43	10.42	5	SNP	0.000	G
RPLP0	6175	genome.wustl.edu	37	12	120638628	120638628	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:120638628G>C	ENST00000551150.1	-	0	274				PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_De_novo_Start_OutOfFrame|RPLP0_ENST00000546989.1_De_novo_Start_OutOfFrame|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_De_novo_Start_OutOfFrame|RPLP0_ENST00000228306.4_De_novo_Start_OutOfFrame|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000538804.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTTAAAGACGATGTCACTGA	0.617											OREG0022184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													33.0	25.0	28.0					12																	120638628		2203	4299	6502	-	-	-			0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.-42C>G	12.37:g.120638628G>C		1505	Q3B7A4|Q9BVK4	RNA	SNP	-	NULL	ENST00000551150.1	37	NULL	CCDS9193.1	12																																																																																			RPLP0	-	-	ENSG00000089157		0.617	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	22	0.00	0	G	NM_053275		120638628	120638628	-1	no_errors	ENST00000550296	ensembl	human	known	69_37n	rna	6	50.00	6	SNP	1.000	C
RPS5	6193	genome.wustl.edu	37	19	58899511	58899511	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:58899511G>A	ENST00000596046.1	+	1	856	c.7G>A	c.(7-9)Gag>Aag	p.E3K	RPS5_ENST00000598098.1_Missense_Mutation_p.E3K|RPS5_ENST00000196551.3_Missense_Mutation_p.E3K|RPS5_ENST00000598495.1_Missense_Mutation_p.E3K|MIR4754_ENST00000582477.1_RNA|RPS5_ENST00000601521.1_Missense_Mutation_p.E3K			P46782	RS5_HUMAN	ribosomal protein S5	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CAGGATGACCGAGTGGGAGAC	0.552																																						dbGAP											0													63.0	51.0	55.0					19																	58899511		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.7G>A	19.37:g.58899511G>A	ENSP00000472985:p.Glu3Lys		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.E3K	ENST00000596046.1	37	c.7	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599141	0.66332	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.12	3.09	0.35607	.	0.147174	0.49305	D	0.000143	T	0.37210	0.0995	N	0.14661	0.345	0.42010	D	0.990933	B	0.22003	0.063	B	0.14578	0.011	T	0.40440	-0.9563	9	0.72032	D	0.01	-51.4539	9.6502	0.39892	0.1066:0.0:0.8934:0.0	.	3	P46782	RS5_HUMAN	K	3	.	ENSP00000196551:E3K	E	+	1	0	RPS5	63591323	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	8.210000	0.89753	2.308000	0.77769	0.655000	0.94253	GAG	RPS5	-	NULL	ENSG00000083845		0.552	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	52	0.00	0	G	NM_001009		58899511	58899511	+1	no_errors	ENST00000196551	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.998	A
RPS6KA6	27330	genome.wustl.edu	37	X	83372093	83372093	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:83372093G>A	ENST00000262752.2	-	11	931	c.924C>T	c.(922-924)ttC>ttT	p.F308F	RPS6KA6_ENST00000543399.1_Silent_p.F308F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	308	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATTCCTTTTGAATAACATCC	0.313																																						dbGAP											0													52.0	49.0	50.0					X																	83372093		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.924C>T	X.37:g.83372093G>A			B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.F308	ENST00000262752.2	37	c.924	CCDS14451.1	X																																																																																			RPS6KA6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000072133		0.313	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	81	0.00	0	G	NM_014496		83372093	83372093	-1	no_errors	ENST00000262752	ensembl	human	known	69_37n	silent	37	21.28	10	SNP	1.000	A
RPS6KB1	6198	genome.wustl.edu	37	17	57970672	57970672	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:57970672G>A	ENST00000225577.4	+	1	148	c.127G>A	c.(127-129)Gag>Aag	p.E43K	TUBD1_ENST00000376094.4_5'Flank|TUBD1_ENST00000592426.1_5'Flank|TUBD1_ENST00000591611.1_5'Flank|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E43K|TUBD1_ENST00000346141.6_5'Flank|TUBD1_ENST00000325752.3_5'Flank|TUBD1_ENST00000340993.6_5'Flank|TUBD1_ENST00000539018.1_5'Flank|TUBD1_ENST00000394239.3_5'Flank|RPS6KB1_ENST00000393021.3_5'UTR|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E43K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	43					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CTCTGAGGATGAGCTGGAGGA	0.687																																						dbGAP											0													17.0	19.0	18.0					17																	57970672		2199	4300	6499	-	-	-	SO:0001583	missense	0			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.127G>A	17.37:g.57970672G>A	ENSP00000225577:p.Glu43Lys		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.E43K	ENST00000225577.4	37	c.127	CCDS11621.1	17	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400982	0.83120	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577	T;T;T	0.72505	-0.66;-0.29;-0.35	4.71	4.71	0.59529	.	0.105035	0.64402	D	0.000005	T	0.75133	0.3808	M	0.68593	2.085	0.80722	D	1	P;B;P	0.41008	0.735;0.015;0.462	P;B;B	0.44860	0.462;0.022;0.275	T	0.79145	-0.1924	10	0.66056	D	0.02	.	18.186	0.89793	0.0:0.0:1.0:0.0	.	43;43;43	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	K	43	ENSP00000441993:E43K;ENSP00000384335:E43K;ENSP00000225577:E43K	ENSP00000225577:E43K	E	+	1	0	RPS6KB1	55325454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.616000	0.90924	2.604000	0.88044	0.563000	0.77884	GAG	RPS6KB1	-	pirsf_Ribosomal_S6_kinase	ENSG00000108443		0.687	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	HGNC	protein_coding	OTTHUMT00000319324.1	38	0.00	0	G	NM_003161		57970672	57970672	+1	no_errors	ENST00000225577	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	1.000	A
RQCD1	9125	genome.wustl.edu	37	2	219457418	219457418	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:219457418C>T	ENST00000273064.6	+	7	1094	c.719C>T	c.(718-720)tCa>tTa	p.S240L	RQCD1_ENST00000509807.2_Missense_Mutation_p.S272L|RQCD1_ENST00000542068.1_Missense_Mutation_p.S240L|RQCD1_ENST00000295701.5_Missense_Mutation_p.S240L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	240					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCGACTTTCAGATAACCCC	0.448																																						dbGAP											0													111.0	112.0	111.0					2																	219457418		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.719C>T	2.37:g.219457418C>T	ENSP00000273064:p.Ser240Leu		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	p.S272L	ENST00000273064.6	37	c.815	CCDS33379.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.077590	0.94000	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701;ENST00000418808	T;T;T;T;T	0.50548	0.74;0.82;0.74;0.74;0.74	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	H	0.95004	3.61	0.80722	D	1	D;D;D	0.76494	0.979;0.999;0.999	P;D;D	0.70227	0.904;0.968;0.95	D	0.83999	0.0342	10	0.87932	D	0	-11.6424	19.4568	0.94895	0.0:1.0:0.0:0.0	.	272;240;240	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	L	240;272;240;240;56	ENSP00000273064:S240L;ENSP00000441357:S272L;ENSP00000443687:S240L;ENSP00000295701:S240L;ENSP00000396938:S56L	ENSP00000273064:S240L	S	+	2	0	RQCD1	219165662	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.598000	0.82745	2.832000	0.97577	0.655000	0.94253	TCA	RQCD1	-	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	ENSG00000144580		0.448	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RQCD1	HGNC	protein_coding	OTTHUMT00000336920.1	53	0.00	0	C	NM_005444		219457418	219457418	+1	no_errors	ENST00000509807	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	1.000	T
RTCA	8634	genome.wustl.edu	37	1	100741174	100741174	+	Missense_Mutation	SNP	C	C	G	rs201551938		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:100741174C>G	ENST00000370128.4	+	7	804	c.635C>G	c.(634-636)gCg>gGg	p.A212G	RTCA_ENST00000260563.4_Missense_Mutation_p.A225G	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	212					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										GATATGGCAGCGGCAGCAGTT	0.363																																						dbGAP											0													65.0	73.0	71.0					1																	100741174		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.635C>G	1.37:g.100741174C>G	ENSP00000359146:p.Ala212Gly		Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1	p.A225G	ENST00000370128.4	37	c.674	CCDS768.1	1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722180	0.48728	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.5	5.5	0.81552	-terminal phosphate cyclase, subset, insert domain (2);-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase domain (1);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.105382	0.64402	D	0.000003	T	0.46795	0.1411	L	0.45137	1.4	0.80722	D	1	B;B	0.17465	0.022;0.016	B;B	0.22152	0.035;0.038	T	0.40887	-0.9539	9	0.41790	T	0.15	-4.3566	19.4121	0.94679	0.0:1.0:0.0:0.0	.	225;212	O00442-2;O00442	.;RTC1_HUMAN	G	212;225	.	ENSP00000260563:A225G	A	+	2	0	RTCD1	100513762	0.995000	0.38212	0.079000	0.20413	0.921000	0.55340	7.284000	0.78650	2.603000	0.88011	0.655000	0.94253	GCG	RTCA	-	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1	ENSG00000137996		0.363	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCA	HGNC	protein_coding	OTTHUMT00000030098.2	99	0.00	0	C			100741174	100741174	+1	no_errors	ENST00000260563	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.843	G
RUNDC1	146923	genome.wustl.edu	37	17	41143047	41143047	+	Missense_Mutation	SNP	G	G	A	rs61995866		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:41143047G>A	ENST00000361677.1	+	5	1168	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	386										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAGAGGCTGGAGGTGTCAGT	0.577																																						dbGAP											0													50.0	42.0	44.0					17																	41143047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1156G>A	17.37:g.41143047G>A	ENSP00000354622:p.Glu386Lys		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.E386K	ENST00000361677.1	37	c.1156	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.213269	0.95069	.	.	ENSG00000198863	ENST00000361677	T	0.23147	1.92	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.71581	2.175	0.80722	D	1	D	0.56521	0.976	P	0.50049	0.629	T	0.29458	-1.0011	10	0.48119	T	0.1	-28.6063	19.0064	0.92852	0.0:0.0:1.0:0.0	.	386	Q96C34	RUND1_HUMAN	K	386	ENSP00000354622:E386K	ENSP00000354622:E386K	E	+	1	0	RUNDC1	38396573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.652000	0.98499	2.718000	0.92993	0.655000	0.94253	GAG	RUNDC1	-	NULL	ENSG00000198863		0.577	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	26	0.00	0	G	NM_173079		41143047	41143047	+1	no_errors	ENST00000361677	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
RUNDC1	146923	genome.wustl.edu	37	17	41143193	41143193	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:41143193G>A	ENST00000361677.1	+	5	1314	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	434	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGGTGGCTGTGAGGGACCTGC	0.587																																						dbGAP											0													58.0	50.0	53.0					17																	41143193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1302G>A	17.37:g.41143193G>A			Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.V434	ENST00000361677.1	37	c.1302	CCDS11448.1	17																																																																																			RUNDC1	-	pfam_Run,pfscan_Run	ENSG00000198863		0.587	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	37	0.00	0	G	NM_173079		41143193	41143193	+1	no_errors	ENST00000361677	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	0.998	A
RXFP2	122042	genome.wustl.edu	37	13	32366114	32366114	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:32366114G>A	ENST00000298386.2	+	15	1388	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	RXFP2_ENST00000380314.1_Missense_Mutation_p.M415I	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	439					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCATTGGCATGAGATCTTTCA	0.343																																						dbGAP											0													121.0	109.0	113.0					13																	32366114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1317G>A	13.37:g.32366114G>A	ENSP00000298386:p.Met439Ile		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.M439I	ENST00000298386.2	37	c.1317	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530625	0.64860	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.32753	1.44;1.44	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.035921	0.85682	D	0.000000	T	0.38241	0.1033	M	0.61703	1.905	0.58432	D	0.999999	P;B	0.34462	0.454;0.27	B;B	0.41723	0.365;0.291	T	0.08493	-1.0719	10	0.14656	T	0.56	.	17.1485	0.86772	0.0:0.0:1.0:0.0	.	415;439	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	I	415;439	ENSP00000369670:M415I;ENSP00000298386:M439I	ENSP00000298386:M439I	M	+	3	0	RXFP2	31264114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.661000	0.90470	0.655000	0.94253	ATG	RXFP2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000133105		0.343	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	102	0.00	0	G	NM_130806		32366114	32366114	+1	no_errors	ENST00000298386	ensembl	human	known	69_37n	missense	82	26.79	30	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	39070708	39070708	+	Missense_Mutation	SNP	C	C	G	rs200442804	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:39070708C>G	ENST00000359596.3	+	100	14451	c.14451C>G	c.(14449-14451)atC>atG	p.I4817M	RYR1_ENST00000355481.4_Missense_Mutation_p.I4812M|RYR1_ENST00000360985.3_Missense_Mutation_p.I4812M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4817					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCTGGACATCGCCATGGGGG	0.592																																						dbGAP											0													150.0	103.0	119.0					19																	39070708		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14451C>G	19.37:g.39070708C>G	ENSP00000352608:p.Ile4817Met		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.I4817M	ENST00000359596.3	37	c.14451	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270072	0.23221	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98762	-5.12;-5.12;-5.12	4.57	-2.97	0.05530	Ion transport (1);	0.000000	0.64402	U	0.000002	D	0.98498	0.9499	M	0.72353	2.195	0.41562	D	0.988632	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97385	0.9985	10	0.87932	D	0	.	11.5715	0.50836	0.0:0.4187:0.0:0.5813	.	4812;4817	P21817-2;P21817	.;RYR1_HUMAN	M	4817;4812;4812	ENSP00000352608:I4817M;ENSP00000347667:I4812M;ENSP00000354254:I4812M	ENSP00000347667:I4812M	I	+	3	3	RYR1	43762548	0.000000	0.05858	0.992000	0.48379	0.982000	0.71751	-2.304000	0.01134	-0.291000	0.09012	-0.448000	0.05591	ATC	RYR1	-	pfam_Ion_trans_dom	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	42	0.00	0	C			39070708	39070708	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.989	G
RYR2	6262	genome.wustl.edu	37	1	237586541	237586541	+	Missense_Mutation	SNP	C	C	T	rs397516552		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:237586541C>T	ENST00000366574.2	+	12	1315	c.998C>T	c.(997-999)tCt>tTt	p.S333F	RYR2_ENST00000360064.6_Missense_Mutation_p.S331F|RYR2_ENST00000542537.1_Missense_Mutation_p.S317F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	333	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCCGGTCTTCCAAGGTG	0.358																																						dbGAP											0													75.0	70.0	72.0					1																	237586541		1853	4093	5946	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.998C>T	1.37:g.237586541C>T	ENSP00000355533:p.Ser333Phe		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S331F	ENST00000366574.2	37	c.992	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669574	0.67814	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88046	-2.33;-2.33;-2.33	5.52	5.52	0.82312	MIR motif (2);MIR (2);	0.000000	0.64402	D	0.000005	D	0.91240	0.7239	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	D	0.91203	0.4993	10	0.54805	T	0.06	.	19.4398	0.94813	0.0:1.0:0.0:0.0	.	333	Q92736	RYR2_HUMAN	F	333;331;317	ENSP00000355533:S333F;ENSP00000353174:S331F;ENSP00000443798:S317F	ENSP00000353174:S331F	S	+	2	0	RYR2	235653164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.009000	0.70745	2.598000	0.87819	0.655000	0.94253	TCT	RYR2	-	pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000198626		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	32	0.00	0	C	NM_001035		237586541	237586541	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237972300	237972300	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:237972300G>A	ENST00000366574.2	+	100	14715	c.14398G>A	c.(14398-14400)Gat>Aat	p.D4800N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4806N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4784N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4800					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGATGGTGATACACCAGA	0.353																																						dbGAP											0													234.0	228.0	230.0					1																	237972300		1852	4091	5943	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14398G>A	1.37:g.237972300G>A	ENSP00000355533:p.Asp4800Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D4806N	ENST00000366574.2	37	c.14416	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.118779	0.94385	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.91792	-2.91;-2.91;-2.91	4.88	4.88	0.63580	Ion transport (1);	0.090564	0.42548	U	0.000682	D	0.91489	0.7313	L	0.46947	1.48	0.58432	D	0.999993	B;P	0.41784	0.384;0.762	B;P	0.44897	0.379;0.463	D	0.92720	0.6190	10	0.87932	D	0	.	18.3877	0.90472	0.0:0.0:1.0:0.0	.	233;4800	F5H3C7;Q92736	.;RYR2_HUMAN	N	4800;4806;4784;233	ENSP00000355533:D4800N;ENSP00000353174:D4806N;ENSP00000443798:D4784N	ENSP00000353174:D4806N	D	+	1	0	RYR2	236038923	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.813000	0.99286	2.412000	0.81896	0.563000	0.77884	GAT	RYR2	-	pfam_Ion_trans_dom	ENSG00000198626		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	95	0.00	0	G	NM_001035		237972300	237972300	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	91	25.41	31	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237994830	237994830	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:237994830C>G	ENST00000366574.2	+	104	15090	c.14773C>G	c.(14773-14775)Ctt>Gtt	p.L4925V	RYR2_ENST00000360064.6_Missense_Mutation_p.L4931V|RYR2_ENST00000542537.1_Missense_Mutation_p.L4909V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4925					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGATGTATCTTATAAACAA	0.313																																						dbGAP											0													95.0	86.0	89.0					1																	237994830		1819	4082	5901	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14773C>G	1.37:g.237994830C>G	ENSP00000355533:p.Leu4925Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L4931V	ENST00000366574.2	37	c.14791	CCDS55691.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.736184|4.736184	0.89482|0.89482	.|.	.|.	ENSG00000198626|ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537|ENST00000536033	D;D;D|.	0.98701|.	-5.08;-5.05;-5.07|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.56097|.	D|.	0.000031|.	T|T	0.56124|0.56124	0.1964|0.1964	M|M	0.74258|0.74258	2.255|2.255	0.42954|0.42954	D|D	0.994383|0.994383	D|P	0.63880|0.42123	0.993|0.771	D|B	0.67548|0.39419	0.952|0.299	T|T	0.60707|0.60707	-0.7210|-0.7210	10|8	0.87932|0.02654	D|T	0|1	.|.	18.6993|18.6993	0.91614|0.91614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4925|324	Q92736|F5H3C7	RYR2_HUMAN|.	V|C	4925;4931;4909|324	ENSP00000355533:L4925V;ENSP00000353174:L4931V;ENSP00000443798:L4909V|.	ENSP00000353174:L4931V|ENSP00000439181:S324C	L|S	+|+	1|2	0|0	RYR2|RYR2	236061453|236061453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.057000|6.057000	0.71119|0.71119	2.582000|2.582000	0.87167|0.87167	0.491000|0.491000	0.48974|0.48974	CTT|TCT	RYR2	-	NULL	ENSG00000198626		0.313	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	126	0.00	0	C	NM_001035		237994830	237994830	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	137	17.96	30	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	33825550	33825550	+	Missense_Mutation	SNP	C	C	A	rs183923528		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:33825550C>A	ENST00000389232.4	+	5	463	c.393C>A	c.(391-393)gaC>gaA	p.D131E	RYR3_ENST00000415757.3_Missense_Mutation_p.D131E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	131	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCAGACAGACAAACTTGCCT	0.468																																						dbGAP											0													105.0	99.0	101.0					15																	33825550		1972	4172	6144	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.393C>A	15.37:g.33825550C>A	ENSP00000373884:p.Asp131Glu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D131E	ENST00000389232.4	37	c.393	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611559	0.66558	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	4.73	3.62	0.41486	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	L	0.48986	1.54	0.45852	D	0.998713	D;D	0.71674	0.996;0.998	D;D	0.76071	0.987;0.924	D	0.95984	0.8980	10	0.24483	T	0.36	.	9.3928	0.38383	0.0:0.087:0.0:0.913	.	131;131	Q15413-2;Q15413	.;RYR3_HUMAN	E	131	ENSP00000373884:D131E;ENSP00000399610:D131E	ENSP00000354735:D131E	D	+	3	2	RYR3	31612842	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.469000	0.35343	0.843000	0.35070	-0.302000	0.09304	GAC	RYR3	-	pfam_Ins145_P3_rcpt,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000198838		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	73	0.00	0	C			33825550	33825550	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	A
SART3	9733	genome.wustl.edu	37	12	108954579	108954579	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:108954579G>A	ENST00000228284.3	-	1	547				ISCU_ENST00000547005.1_5'Flank|ISCU_ENST00000311893.9_5'Flank|ISCU_ENST00000392807.4_5'Flank|ISCU_ENST00000431221.2_5'Flank|SART3_ENST00000431469.2_Intron|ISCU_ENST00000539593.1_5'Flank|ISCU_ENST00000338291.4_5'Flank|SART3_ENST00000546611.1_Nonsense_Mutation_p.Q118*|ISCU_ENST00000535729.1_5'Flank|SART3_ENST00000552221.1_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3						cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CCGAGGACCTGAAAGACTGGA	0.612									Porokeratosis																													dbGAP											0													27.0	32.0	30.0					12																	108954579		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.312+39C>T	12.37:g.108954579G>A			A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Nonsense_Mutation	SNP	NULL	p.Q118*	ENST00000228284.3	37	c.352	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989024	0.53934	.	.	ENSG00000075856	ENST00000546611	.	.	.	1.03	1.03	0.20045	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	5.6834	0.17788	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000448554:Q118X	Q	-	1	0	SART3	107478709	0.000000	0.05858	0.078000	0.20375	0.108000	0.19459	-0.476000	0.06591	0.308000	0.22923	0.313000	0.20887	CAG	SART3	-	NULL	ENSG00000075856		0.612	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	49	0.00	0	G			108954579	108954579	-1	no_errors	ENST00000546611	ensembl	human	known	69_37n	nonsense	18	37.93	11	SNP	0.016	A
SBF1	6305	genome.wustl.edu	37	22	50898965	50898965	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:50898965G>A	ENST00000390679.3	-	24	3328	c.3144C>T	c.(3142-3144)ctC>ctT	p.L1048L	SBF1_ENST00000348911.6_Silent_p.L1049L|SBF1_ENST00000380817.3_Silent_p.L1048L			O95248	MTMR5_HUMAN	SET binding factor 1	1048					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCATACCTGAGGGAAGGAC	0.652																																						dbGAP											0													67.0	77.0	74.0					22																	50898965		2124	4226	6350	-	-	-	SO:0001819	synonymous_variant	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3144C>T	22.37:g.50898965G>A			A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.L1048	ENST00000390679.3	37	c.3144		22																																																																																			SBF1	-	NULL	ENSG00000100241		0.652	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		50	0.00	0	G			50898965	50898965	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	silent	28	22.22	8	SNP	1.000	A
SBF1	6305	genome.wustl.edu	37	22	50899061	50899061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:50899061G>C	ENST00000390679.3	-	24	3232	c.3048C>G	c.(3046-3048)taC>taG	p.Y1016*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.Y1017*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.Y1016*			O95248	MTMR5_HUMAN	SET binding factor 1	1016					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCCGGCGGGTACCGCAGCT	0.612																																						dbGAP											0													91.0	99.0	97.0					22																	50899061		2053	4184	6237	-	-	-	SO:0001587	stop_gained	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3048C>G	22.37:g.50899061G>C	ENSP00000375097:p.Tyr1016*		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.Y1016*	ENST00000390679.3	37	c.3048		22	.	.	.	.	.	.	.	.	.	.	G	40	8.053711	0.98629	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	.	.	.	4.47	2.33	0.28932	.	0.308665	0.31697	N	0.007218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9522	0.41645	0.1732:0.0:0.8268:0.0	.	.	.	.	X	1016;1017;1026;1016	.	ENSP00000336522:Y1026X	Y	-	3	2	SBF1	49245927	1.000000	0.71417	0.989000	0.46669	0.272000	0.26649	0.997000	0.29731	0.851000	0.35264	0.467000	0.42956	TAC	SBF1	-	NULL	ENSG00000100241		0.612	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		33	0.00	0	G			50899061	50899061	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	nonsense	17	29.17	7	SNP	1.000	C
SBF1	6305	genome.wustl.edu	37	22	50899605	50899605	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:50899605G>A	ENST00000390679.3	-	23	3134	c.2950C>T	c.(2950-2952)Cgc>Tgc	p.R984C	SBF1_ENST00000348911.6_Missense_Mutation_p.R985C|SBF1_ENST00000380817.3_Missense_Mutation_p.R984C			O95248	MTMR5_HUMAN	SET binding factor 1	984					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCAGGAGCGCAGCTGGAGC	0.647																																						dbGAP											0													33.0	44.0	40.0					22																	50899605		2041	4183	6224	-	-	-	SO:0001583	missense	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2950C>T	22.37:g.50899605G>A	ENSP00000375097:p.Arg984Cys		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R984C	ENST00000390679.3	37	c.2950		22	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523794	0.85600	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.82984	-1.67;-1.67;-1.67	3.6	3.6	0.41247	.	0.132049	0.52532	D	0.000061	D	0.90786	0.7107	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.85130	0.886;0.855;0.997	D	0.92496	0.6004	10	0.87932	D	0	.	15.3502	0.74376	0.0:0.0:1.0:0.0	.	984;985;984	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	C	984;985;994;984	ENSP00000370196:R984C;ENSP00000252027:R985C;ENSP00000375097:R984C	ENSP00000336522:R994C	R	-	1	0	SBF1	49246471	0.998000	0.40836	1.000000	0.80357	0.884000	0.51177	3.639000	0.54339	1.995000	0.58328	0.467000	0.42956	CGC	SBF1	-	NULL	ENSG00000100241		0.647	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		57	0.00	0	G			50899605	50899605	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	A
SCAF4	57466	genome.wustl.edu	37	21	33044346	33044346	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr21:33044346C>T	ENST00000286835.7	-	20	3192	c.2810G>A	c.(2809-2811)aGa>aAa	p.R937K	SCAF4_ENST00000399804.1_Missense_Mutation_p.R915K|SCAF4_ENST00000434667.3_Missense_Mutation_p.R922K	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	937						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						cCTTCCGTCTCTGTCTTCAGG	0.672																																						dbGAP											0													20.0	24.0	22.0					21																	33044346		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2810G>A	21.37:g.33044346C>T	ENSP00000286835:p.Arg937Lys		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.R937K	ENST00000286835.7	37	c.2810	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535167	0.45176	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.45276	0.96;0.93;0.9	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000008	T	0.36635	0.0974	N	0.19112	0.55	0.33816	D	0.628486	P;P;P	0.45474	0.779;0.859;0.779	B;P;B	0.44394	0.262;0.448;0.262	T	0.48139	-0.9061	10	0.46703	T	0.11	-14.0077	19.0133	0.92882	0.0:1.0:0.0:0.0	.	922;915;937	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	K	922;937;915	ENSP00000402377:R922K;ENSP00000286835:R937K;ENSP00000382703:R915K	ENSP00000286835:R937K	R	-	2	0	SCAF4	31966217	0.984000	0.35163	0.997000	0.53966	0.780000	0.44128	2.264000	0.43302	2.729000	0.93468	0.555000	0.69702	AGA	SCAF4	-	NULL	ENSG00000156304		0.672	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	48	0.00	0	C	XM_047889		33044346	33044346	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	0.958	T
SCARA5	286133	genome.wustl.edu	37	8	27762283	27762283	+	Intron	SNP	G	G	A	rs560514047		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:27762283G>A	ENST00000354914.3	-	7	1639				SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Silent_p.L346L|SCARA5_ENST00000301906.4_Silent_p.L346L|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000524352.1_Silent_p.L389L	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5						cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGCCCCAGCAGAATGTCCTTA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17637	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													144.0	116.0	126.0					8																	27762283		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1153+11C>T	8.37:g.27762283G>A			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	pfam_Collagen	p.L389	ENST00000354914.3	37	c.1165	CCDS6064.1	8																																																																																			SCARA5	-	NULL	ENSG00000168079		0.552	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	128	0.00	0	G	NM_173833		27762283	27762283	-1	no_errors	ENST00000524352	ensembl	human	known	69_37n	silent	84	20.75	22	SNP	0.000	A
SCMH1	22955	genome.wustl.edu	37	1	41579178	41579178	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:41579178G>A	ENST00000326197.7	-	7	791	c.492C>T	c.(490-492)caC>caT	p.H164H	SCMH1_ENST00000372595.1_Silent_p.H103H|SCMH1_ENST00000372596.1_Silent_p.H103H|SCMH1_ENST00000397174.2_Silent_p.H144H|SCMH1_ENST00000361705.3_Silent_p.H117H|SCMH1_ENST00000361191.5_Silent_p.H103H|SCMH1_ENST00000337495.5_Silent_p.H174H|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372597.1_Silent_p.H117H|SCMH1_ENST00000402904.2_Silent_p.H164H|SCMH1_ENST00000397171.2_Silent_p.H103H					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGAAGAAGTTGTGGGAAGGCG	0.468																																						dbGAP											0													62.0	63.0	63.0					1																	41579178		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.492C>T	1.37:g.41579178G>A				Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.H164	ENST00000326197.7	37	c.492	CCDS30688.1	1																																																																																			SCMH1	-	smart_Mbt,pfscan_Mbt	ENSG00000010803		0.468	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	64	0.00	0	G			41579178	41579178	-1	no_errors	ENST00000326197	ensembl	human	known	69_37n	silent	46	19.30	11	SNP	1.000	A
SCN1A	6323	genome.wustl.edu	37	2	166904221	166904221	+	Nonsense_Mutation	SNP	G	G	T	rs78391141	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:166904221G>T	ENST00000303395.4	-	8	1085	c.1086C>A	c.(1084-1086)taC>taA	p.Y362*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Y362*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Y362*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Y362*|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	362					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGCTTGTGTAGCCATAAT	0.418																																						dbGAP											0													112.0	110.0	110.0					2																	166904221		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1086C>A	2.37:g.166904221G>T	ENSP00000303540:p.Tyr362*		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.Y362*	ENST00000303395.4	37	c.1086	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.309931	0.95629	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.0	0.581	0.17407	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0544	0.36397	0.4348:0.0:0.5652:0.0	.	.	.	.	X	362	.	ENSP00000303540:Y362X	Y	-	3	2	SCN1A	166612467	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.304000	0.19228	0.254000	0.21573	0.655000	0.94253	TAC	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.418	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	90	0.00	0	G	NM_006920		166904221	166904221	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	nonsense	49	27.94	19	SNP	1.000	T
SCN9A	6335	genome.wustl.edu	37	2	167129104	167129104	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:167129104G>A	ENST00000409435.1	-	16	3155	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.F1053F|SCN9A_ENST00000303354.6_Silent_p.F1053F|SCN9A_ENST00000409672.1_Silent_p.F1041F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1052					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCTTGAGGAAATTGTGAC	0.383																																						dbGAP											0													140.0	132.0	135.0					2																	167129104		1901	4120	6021	-	-	-	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3156C>T	2.37:g.167129104G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.F1053	ENST00000409435.1	37	c.3159	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Na_trans_assoc	ENSG00000169432		0.383	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	153	0.00	0	G	NM_002977		167129104	167129104	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	silent	95	32.62	46	SNP	0.670	A
SCYL3	57147	genome.wustl.edu	37	1	169828266	169828266	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:169828266C>G	ENST00000367770.1	-	10	1275	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.E410Q|RN7SL333P_ENST00000476398.2_RNA|SCYL3_ENST00000367771.6_Missense_Mutation_p.E410Q			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	410					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAACCACCTCTGGTCCAAGC	0.453																																						dbGAP											0													129.0	119.0	123.0					1																	169828266		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1228G>C	1.37:g.169828266C>G	ENSP00000356744:p.Glu410Gln		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.E410Q	ENST00000367770.1	37	c.1228	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287498	0.59976	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.147701	0.64402	D	0.000010	T	0.18299	0.0439	L	0.53249	1.67	0.44852	D	0.997868	P;P;P	0.46987	0.56;0.832;0.888	B;B;B	0.43867	0.434;0.332;0.343	T	0.00852	-1.1540	10	0.38643	T	0.18	-17.0019	19.5894	0.95501	0.0:1.0:0.0:0.0	.	56;410;410	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	Q	410	ENSP00000356746:E410Q;ENSP00000356745:E410Q;ENSP00000356744:E410Q;ENSP00000407993:E410Q	ENSP00000356744:E410Q	E	-	1	0	SCYL3	168094890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.637000	0.61346	2.720000	0.93068	0.557000	0.71058	GAG	SCYL3	-	superfamily_ARM-type_fold	ENSG00000000457		0.453	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	106	0.00	0	C	NM_181093		169828266	169828266	-1	no_errors	ENST00000367770	ensembl	human	known	69_37n	missense	76	24.27	25	SNP	1.000	G
SDK1	221935	genome.wustl.edu	37	7	4281470	4281470	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:4281470G>A	ENST00000404826.2	+	43	6315	c.6176G>A	c.(6175-6177)gGa>gAa	p.G2059E	SDK1_ENST00000389531.3_Missense_Mutation_p.G2039E|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2059					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGGACAACGGAGGATTTGCT	0.592																																						dbGAP											0													97.0	81.0	86.0					7																	4281470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6176G>A	7.37:g.4281470G>A	ENSP00000385899:p.Gly2059Glu		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G2059E	ENST00000404826.2	37	c.6176	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236645	0.58886	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.61980	0.06;0.07	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.79257	0.4415	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;0.988;1.0	T	0.77726	-0.2480	10	0.39692	T	0.17	.	17.9113	0.88934	0.0:0.0:1.0:0.0	.	2039;119;546;2059	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	E	2059;307;2039	ENSP00000385899:G2059E;ENSP00000374182:G2039E	ENSP00000374182:G2039E	G	+	2	0	SDK1	4247996	1.000000	0.71417	0.142000	0.22268	0.862000	0.49288	9.265000	0.95647	2.644000	0.89710	0.650000	0.86243	GGA	SDK1	-	NULL	ENSG00000146555		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	51	0.00	0	G	NM_152744		4281470	4281470	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	A
SEL1L	6400	genome.wustl.edu	37	14	81993170	81993170	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:81993170C>G	ENST00000336735.4	-	3	363	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	SEL1L_ENST00000555824.1_Missense_Mutation_p.E83Q	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	83	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTTTCCCCCTCTTGGCTCTTG	0.418																																						dbGAP											0													180.0	185.0	183.0					14																	81993170		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.247G>C	14.37:g.81993170C>G	ENSP00000337053:p.Glu83Gln		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.E83Q	ENST00000336735.4	37	c.247	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373177	0.61624	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.58060	1.55;1.22;0.36	6.07	6.07	0.98685	.	0.485574	0.21130	N	0.079678	T	0.54046	0.1834	N	0.19112	0.55	0.44843	D	0.99785	B;D	0.53619	0.048;0.961	B;P	0.54590	0.039;0.756	T	0.54084	-0.8346	10	0.51188	T	0.08	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	83;83	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	Q	83	ENSP00000337053:E83Q;ENSP00000450709:E83Q;ENSP00000451144:E83Q	ENSP00000337053:E83Q	E	-	1	0	SEL1L	81062923	1.000000	0.71417	0.903000	0.35520	0.960000	0.62799	4.186000	0.58337	2.885000	0.99019	0.655000	0.94253	GAG	SEL1L	-	NULL	ENSG00000071537		0.418	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1	130	0.00	0	C	NM_005065		81993170	81993170	-1	no_errors	ENST00000336735	ensembl	human	known	69_37n	missense	103	18.90	24	SNP	0.999	G
SEL1L3	23231	genome.wustl.edu	37	4	25806285	25806285	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:25806285G>A	ENST00000399878.3	-	10	1776	c.1654C>T	c.(1654-1656)Cac>Tac	p.H552Y	SEL1L3_ENST00000264868.5_Missense_Mutation_p.H517Y|SEL1L3_ENST00000502949.1_Missense_Mutation_p.H399Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	552						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTAATTTGGTGAAGACCATCA	0.413																																						dbGAP											0													107.0	102.0	104.0					4																	25806285		1885	4129	6014	-	-	-	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1654C>T	4.37:g.25806285G>A	ENSP00000382767:p.His552Tyr		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.H552Y	ENST00000399878.3	37	c.1654	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390444	0.25118	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14391	2.71;2.72;2.51	6.02	5.16	0.70880	.	0.673871	0.16851	N	0.196934	T	0.14657	0.0354	L	0.57536	1.79	0.29367	N	0.864295	P	0.34412	0.453	B	0.27608	0.081	T	0.08269	-1.0730	10	0.62326	D	0.03	-10.183	11.1571	0.48495	0.0:0.2401:0.6207:0.1392	.	552	Q68CR1	SE1L3_HUMAN	Y	552;517;399	ENSP00000382767:H552Y;ENSP00000264868:H517Y;ENSP00000425438:H399Y	ENSP00000264868:H517Y	H	-	1	0	SEL1L3	25415383	0.994000	0.37717	1.000000	0.80357	0.387000	0.30353	1.752000	0.38349	1.519000	0.48950	0.655000	0.94253	CAC	SEL1L3	-	NULL	ENSG00000091490		0.413	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	103	0.00	0	G	NM_015187		25806285	25806285	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	0.991	A
SEMA4A	64218	genome.wustl.edu	37	1	156128490	156128490	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:156128490C>T	ENST00000368285.3	+	6	729				SEMA4A_ENST00000368282.1_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000355014.2_Intron|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTGGCCCCCCAGCCTCTCTC	0.552																																						dbGAP											0													85.0	85.0	85.0					1																	156128490		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.463-20C>T	1.37:g.156128490C>T			B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	RNA	SNP	-	NULL	ENST00000368285.3	37	NULL	CCDS1132.1	1																																																																																			SEMA4A	-	-	ENSG00000196189		0.552	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	35	0.00	0	C	NM_022367		156128490	156128490	+1	no_errors	ENST00000470306	ensembl	human	known	69_37n	rna	27	26.32	10	SNP	1.000	T
SECISBP2	79048	genome.wustl.edu	37	9	91977111	91977111	+	IGR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:91977111C>G	ENST00000375807.3	+	0	3454				SEMA4D_ENST00000339861.4_3'UTR|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000420101.2_3'UTR|SEMA4D_ENST00000420987.1_3'UTR|SEMA4D_ENST00000455551.2_3'UTR	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2						translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGTCTTAGTTCCTGTCACAGG	0.537																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182		9.37:g.91977111C>G			F8W892|Q5HYY1|Q8IYC0|Q9H0A1	RNA	SNP	-	NULL	ENST00000375807.3	37	NULL	CCDS6683.1	9																																																																																			SEMA4D	-	-	ENSG00000187764		0.537	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000052990.3	17	0.00	0	C	NM_024077		91977111	91977111	-1	no_errors	ENST00000469653	ensembl	human	known	69_37n	rna	21	30.00	9	SNP	0.000	G
SEPT10	151011	genome.wustl.edu	37	2	110310693	110310693	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:110310693C>T	ENST00000397712.2	-	9	1510	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000415095.1_Missense_Mutation_p.E378K|SEPT10_ENST00000545389.1_Missense_Mutation_p.E211K|SEPT10_ENST00000437928.1_Missense_Mutation_p.E363K|SEPT10_ENST00000356688.4_Missense_Mutation_p.E378K|SEPT10_ENST00000397714.2_Missense_Mutation_p.E355K|SEPT10_ENST00000334001.6_Missense_Mutation_p.E245K	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	378					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						AATATGGCTTCTTTCTCCTTT	0.383																																						dbGAP											0													200.0	202.0	202.0					2																	110310693		1921	4138	6059	-	-	-	SO:0001583	missense	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1132G>A	2.37:g.110310693C>T	ENSP00000380824:p.Glu378Lys		B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.E378K	ENST00000397712.2	37	c.1132	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526363	0.64860	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	4.78	4.78	0.61160	.	0.203022	0.32028	N	0.006688	D	0.89945	0.6862	M	0.72118	2.19	0.80722	D	1	P;D;D;D;D	0.69078	0.944;0.976;0.997;0.967;0.963	P;P;D;P;P	0.68943	0.818;0.676;0.961;0.874;0.45	D	0.90160	0.4227	10	0.46703	T	0.11	.	17.406	0.87473	0.0:1.0:0.0:0.0	.	245;211;378;355;378	B7Z371;B7Z277;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;SEP10_HUMAN	K	378;378;355;245;363;211;378	ENSP00000349116:E378K;ENSP00000380824:E378K;ENSP00000380826:E355K;ENSP00000334234:E245K;ENSP00000407790:E363K;ENSP00000439364:E211K;ENSP00000396728:E378K	ENSP00000334234:E245K	E	-	1	0	SEPT10	109667982	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	6.921000	0.75805	2.198000	0.70561	0.467000	0.42956	GAA	SEPT10	-	pirsf_Septin	ENSG00000186522		0.383	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	204	0.00	0	C	NM_144710		110310693	110310693	-1	no_errors	ENST00000397712	ensembl	human	known	69_37n	missense	145	21.58	41	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47163682	47163682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:47163682G>T	ENST00000409792.3	-	3	2486	c.2444C>A	c.(2443-2445)tCa>tAa	p.S815*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	815					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTCATAACTGAAGGCTCAAT	0.338			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													79.0	78.0	79.0					3																	47163682		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2444C>A	3.37:g.47163682G>T	ENSP00000386759:p.Ser815*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S815*	ENST00000409792.3	37	c.2444	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	32	5.161119	0.94727	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.09	4.19	0.49359	.	0.576305	0.15578	N	0.255064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.208	0.48782	0.0872:0.0:0.9128:0.0	.	.	.	.	X	815;815;815;771	.	.	S	-	2	0	SETD2	47138686	0.559000	0.26562	0.728000	0.30774	0.571000	0.35966	2.725000	0.47294	1.319000	0.45190	0.655000	0.94253	TCA	SETD2	-	NULL	ENSG00000181555		0.338	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	66	0.00	0	G	NM_014159		47163682	47163682	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	nonsense	44	20.00	11	SNP	0.987	T
SETD2	29072	genome.wustl.edu	37	3	47163993	47163993	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:47163993G>A	ENST00000409792.3	-	3	2175	c.2133C>T	c.(2131-2133)gtC>gtT	p.V711V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	711					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCATGCTTTGACCAAAGGGG	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													98.0	97.0	98.0					3																	47163993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2133C>T	3.37:g.47163993G>A			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	pfam_SET_dom,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom	p.Q345*	ENST00000409792.3	37	c.1033	CCDS2749.2	3																																																																																			SETD2	-	NULL	ENSG00000181555		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	50	0.00	0	G	NM_014159		47163993	47163993	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445387	ensembl	human	known	69_37n	nonsense	27	34.15	14	SNP	0.377	A
SETD2	29072	genome.wustl.edu	37	3	47165816	47165816	+	Missense_Mutation	SNP	G	G	A	rs539506462		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:47165816G>A	ENST00000409792.3	-	3	352	c.310C>T	c.(310-312)Cca>Tca	p.P104S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	104					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGTACAGCTGGAGGGTTTGGA	0.423			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													226.0	190.0	201.0					3																	47165816		692	1591	2283	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.310C>T	3.37:g.47165816G>A	ENSP00000386759:p.Pro104Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.P104S	ENST00000409792.3	37	c.310	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	3.507	-0.100577	0.06967	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87887	-2.31;1.54	5.42	2.63	0.31362	.	.	.	.	.	T	0.75766	0.3894	N	0.14661	0.345	0.32855	D	0.507147	B;B	0.18461	0.028;0.016	B;B	0.12156	0.007;0.007	T	0.72191	-0.4365	9	0.87932	D	0	.	8.7514	0.34618	0.1369:0.1244:0.7387:0.0	.	104;104	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	104;104;104;60	ENSP00000386759:P104S;ENSP00000416401:P60S	ENSP00000386759:P104S	P	-	1	0	SETD2	47140820	1.000000	0.71417	0.552000	0.28243	0.009000	0.06853	1.870000	0.39529	0.256000	0.21614	-0.219000	0.12488	CCA	SETD2	-	NULL	ENSG00000181555		0.423	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	135	0.00	0	G	NM_014159		47165816	47165816	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	91	24.59	30	SNP	0.997	A
SF3B4	10262	genome.wustl.edu	37	1	149898614	149898614	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:149898614G>A	ENST00000271628.8	-	3	944	c.360C>T	c.(358-360)ttC>ttT	p.F120F	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	120	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAAAGGCGCTGAAAGTATCAT	0.433																																						dbGAP											0													87.0	87.0	87.0					1																	149898614		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.360C>T	1.37:g.149898614G>A			Q5SZ63	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F120	ENST00000271628.8	37	c.360	CCDS941.1	1																																																																																			SF3B4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000143368		0.433	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	103	0.00	0	G	NM_005850		149898614	149898614	-1	no_errors	ENST00000271628	ensembl	human	known	69_37n	silent	84	24.32	27	SNP	1.000	A
SGPP1	81537	genome.wustl.edu	37	14	64153287	64153287	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:64153287G>C	ENST00000247225.6	-	3	956	c.862C>G	c.(862-864)Cac>Gac	p.H288D		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	288					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GCATATTTGTGAGTTTGGTTG	0.408																																						dbGAP											0													59.0	61.0	61.0					14																	64153287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.862C>G	14.37:g.64153287G>C	ENSP00000247225:p.His288Asp		B2RAH0|Q9H189	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.H288D	ENST00000247225.6	37	c.862	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959490	0.02267	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	2.71	0.32032	.	0.372053	0.32204	N	0.006433	T	0.35537	0.0935	L	0.55481	1.735	0.27069	N	0.963359	B	0.11235	0.004	B	0.09377	0.004	T	0.21759	-1.0236	9	0.12103	T	0.63	-6.6011	7.1241	0.25461	0.4797:0.0:0.5203:0.0	.	288	Q9BX95	SGPP1_HUMAN	D	288	.	ENSP00000247225:H288D	H	-	1	0	SGPP1	63223040	0.901000	0.30685	1.000000	0.80357	0.963000	0.63663	0.847000	0.27696	0.825000	0.34637	0.655000	0.94253	CAC	SGPP1	-	NULL	ENSG00000126821		0.408	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	HGNC	protein_coding	OTTHUMT00000072626.3	43	0.00	0	G	NM_030791		64153287	64153287	-1	no_errors	ENST00000247225	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	0.978	C
SGSM1	129049	genome.wustl.edu	37	22	25308675	25308675	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:25308675G>A	ENST00000400359.4	+	23	3056	c.3049G>A	c.(3049-3051)Ggc>Agc	p.G1017S	SGSM1_ENST00000400358.4_Missense_Mutation_p.G962S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1017	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCCCACGGAGGCGCCATGGA	0.512																																						dbGAP											0													84.0	85.0	84.0					22																	25308675		2160	4277	6437	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3049G>A	22.37:g.25308675G>A	ENSP00000383212:p.Gly1017Ser		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.G1017S	ENST00000400359.4	37	c.3049	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	31	5.080593	0.94050	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.09911	2.93;2.93	5.3	4.29	0.51040	Rab-GAP/TBC domain (5);	0.049486	0.85682	N	0.000000	T	0.22627	0.0546	L	0.37850	1.14	0.80722	D	1	B;P;P;D	0.89917	0.073;0.583;0.916;1.0	B;P;P;D	0.97110	0.099;0.738;0.861;1.0	T	0.00926	-1.1512	10	0.48119	T	0.1	-18.5135	13.3576	0.60638	0.0761:0.0:0.9239:0.0	.	962;1017;1034;1017	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	1017;962;1017	ENSP00000383211:G962S;ENSP00000383212:G1017S	ENSP00000383211:G962S	G	+	1	0	SGSM1	23638675	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	9.779000	0.99018	1.390000	0.46547	0.655000	0.94253	GGC	SGSM1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167037		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	78	0.00	0	G	XM_059318		25308675	25308675	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	56	12.31	8	SNP	1.000	A
SH3BP4	23677	genome.wustl.edu	37	2	235950431	235950431	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:235950431C>T	ENST00000409212.1	+	4	1525	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	SH3BP4_ENST00000344528.4_Missense_Mutation_p.H340Y|SH3BP4_ENST00000392011.2_Missense_Mutation_p.H340Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	340					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CATCAGCATCCACGTGCCCGA	0.642																																						dbGAP											0													32.0	36.0	35.0					2																	235950431		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1018C>T	2.37:g.235950431C>T	ENSP00000386862:p.His340Tyr		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.H340Y	ENST00000409212.1	37	c.1018	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388743	0.42308	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.40225	1.04;1.04;1.04	5.8	4.92	0.64577	ZU5 (1);	0.095752	0.64402	D	0.000001	T	0.51736	0.1692	M	0.74647	2.275	0.58432	D	0.999999	P;P	0.52316	0.952;0.952	P;P	0.47891	0.56;0.56	T	0.56571	-0.7957	10	0.45353	T	0.12	-0.2058	15.0819	0.72122	0.1428:0.8572:0.0:0.0	.	340;340	A8K594;Q9P0V3	.;SH3B4_HUMAN	Y	340	ENSP00000375867:H340Y;ENSP00000386862:H340Y;ENSP00000340237:H340Y	ENSP00000340237:H340Y	H	+	1	0	SH3BP4	235615170	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	7.571000	0.82399	1.439000	0.47511	0.655000	0.94253	CAC	SH3BP4	-	pfam_ZU5	ENSG00000130147		0.642	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	8	0.00	0	C			235950431	235950431	+1	no_errors	ENST00000344528	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	T
SH3GL2	6456	genome.wustl.edu	37	9	17747112	17747112	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:17747112G>A	ENST00000380607.4	+	2	214	c.94G>A	c.(94-96)Gac>Aac	p.D32N	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	32	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GCTAGATGATGACTTCAAAGA	0.383																																						dbGAP											0													135.0	116.0	122.0					9																	17747112		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.94G>A	9.37:g.17747112G>A	ENSP00000369981:p.Asp32Asn		B2R618|Q9NQK5	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.D32N	ENST00000380607.4	37	c.94	CCDS6483.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.692016	0.96793	.	.	ENSG00000107295	ENST00000541215;ENST00000397481;ENST00000380607	T	0.38887	1.11	5.97	5.97	0.96955	BAR (3);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.88241	2.94	0.80722	D	1	D	0.54964	0.969	D	0.63877	0.919	T	0.74957	-0.3487	10	0.87932	D	0	.	19.1953	0.93686	0.0:0.0:1.0:0.0	.	32	Q99962	SH3G2_HUMAN	N	32	ENSP00000369981:D32N	ENSP00000369981:D32N	D	+	1	0	SH3GL2	17737112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.885000	0.92439	2.828000	0.97474	0.655000	0.94253	GAC	SH3GL2	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107295		0.383	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL2	HGNC	protein_coding	OTTHUMT00000051796.1	52	0.00	0	G	NM_003026		17747112	17747112	+1	no_errors	ENST00000380607	ensembl	human	known	69_37n	missense	49	22.73	15	SNP	1.000	A
SHANK2	22941	genome.wustl.edu	37	11	70331427	70331427	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:70331427G>C	ENST00000423696.2	-	15	3870	c.3834C>G	c.(3832-3834)ctC>ctG	p.L1278L	SHANK2_ENST00000338508.4_Silent_p.L1658L|SHANK2_ENST00000449833.2_Silent_p.L1062L|SHANK2_ENST00000409161.1_Silent_p.L1061L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1278					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTTGGAGCGAGGCTGGCGG	0.577																																						dbGAP											0													60.0	58.0	59.0					11																	70331427		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3834C>G	11.37:g.70331427G>C			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.L1658	ENST00000423696.2	37	c.4974		11																																																																																			SHANK2	-	NULL	ENSG00000162105		0.577	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		39	0.00	0	G	NM_012309		70331427	70331427	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	silent	38	11.63	5	SNP	1.000	C
SHANK2	22941	genome.wustl.edu	37	11	70507864	70507864	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:70507864C>T	ENST00000423696.2	-	6	753				SHANK2_ENST00000357171.3_Missense_Mutation_p.M3I|SHANK2_ENST00000409530.1_Missense_Mutation_p.M2I|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449833.2_Missense_Mutation_p.M3I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M2I|SHANK2_ENST00000449116.2_Missense_Mutation_p.M3I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGGGACGTTCATCATCATAG	0.582																																						dbGAP											0													91.0	96.0	94.0					11																	70507864		2200	4294	6494	-	-	-	SO:0001627	intron_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-81G>A	11.37:g.70507864C>T			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.M3I	ENST00000423696.2	37	c.9		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.83|18.83	3.707943|3.707943	0.68615|0.68615	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	.|T;T;T;T;T	.|0.56444	.|2.46;2.46;0.86;0.46;0.85	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	.|.	.|.	.|.	.|.	T|T	0.54581|0.54581	0.1867|0.1867	N|N	0.08118|0.08118	0|0	0.31058|0.31058	N|N	0.714445|0.714445	.|P;P	.|0.52577	.|0.851;0.954	.|P;D	.|0.66351	.|0.838;0.943	T|T	0.64728|0.64728	-0.6339|-0.6339	5|9	.|0.87932	.|D	.|0	.|.	17.342|17.342	0.87299|0.87299	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3;3	.|B7ZKU9;Q9UPX8-4	.|.;.	K|I	2|3;2;2;3;3	.|ENSP00000399423:M3I;ENSP00000386491:M2I;ENSP00000387324:M2I;ENSP00000394939:M3I;ENSP00000349694:M3I	.|ENSP00000349694:M3I	E|M	-|-	1|3	0|0	SHANK2|SHANK2	70185512|70185512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.322000|6.322000	0.72886|0.72886	2.081000|2.081000	0.62600|0.62600	0.491000|0.491000	0.48974|0.48974	GAA|ATG	SHANK2	-	NULL	ENSG00000162105		0.582	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		61	0.00	0	C	NM_012309		70507864	70507864	-1	no_errors	ENST00000449833	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	1.000	T
SHPRH	257218	genome.wustl.edu	37	6	146256180	146256180	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:146256180C>T	ENST00000367505.2	-	13	3117	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	SHPRH_ENST00000275233.7_Silent_p.K951K|SHPRH_ENST00000367503.3_Silent_p.K951K|SHPRH_ENST00000438092.2_Silent_p.K951K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	951					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGTCAGAAATCTTCCTGAGTT	0.517																																						dbGAP											0													84.0	85.0	85.0					6																	146256180		1956	4164	6120	-	-	-	SO:0001819	synonymous_variant	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2853G>A	6.37:g.146256180C>T			Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.K951	ENST00000367505.2	37	c.2853	CCDS43513.2	6																																																																																			SHPRH	-	pfam_SNF2_N	ENSG00000146414		0.517	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	60	0.00	0	C	NM_173082		146256180	146256180	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	silent	40	13.04	6	SNP	1.000	T
SHROOM4	57477	genome.wustl.edu	37	X	50377931	50377931	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:50377931G>C	ENST00000289292.7	-	4	1425	c.1142C>G	c.(1141-1143)tCc>tGc	p.S381C	SHROOM4_ENST00000460112.3_Missense_Mutation_p.S265C|SHROOM4_ENST00000376020.2_Missense_Mutation_p.S381C			Q9ULL8	SHRM4_HUMAN	shroom family member 4	381					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGTGGGTTGGAATCCACGCT	0.542																																						dbGAP											0													50.0	36.0	41.0					X																	50377931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1142C>G	X.37:g.50377931G>C	ENSP00000289292:p.Ser381Cys		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S381C	ENST00000289292.7	37	c.1142	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.689845	0.00738	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.46451	0.87;0.87;0.87	5.17	-0.978	0.10279	.	0.987507	0.08266	N	0.972312	T	0.31040	0.0784	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30621	-0.9972	10	0.38643	T	0.18	.	2.0903	0.03655	0.1179:0.1401:0.3078:0.4342	.	381	Q9ULL8	SHRM4_HUMAN	C	381;381;265	ENSP00000289292:S381C;ENSP00000365188:S381C;ENSP00000421450:S265C	ENSP00000289292:S381C	S	-	2	0	SHROOM4	50394671	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	-0.036000	0.12185	-0.189000	0.10482	0.600000	0.82982	TCC	SHROOM4	-	NULL	ENSG00000158352		0.542	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	33	0.00	0	G	NM_020717		50377931	50377931	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	14	37.50	9	SNP	0.000	C
SKOR1	390598	genome.wustl.edu	37	15	68118403	68118403	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:68118403G>C	ENST00000380035.2	+	2	295	c.237G>C	c.(235-237)gaG>gaC	p.E79D	SKOR1_ENST00000554240.1_Missense_Mutation_p.E40D|SKOR1_ENST00000341418.5_Missense_Mutation_p.E265D|SKOR1_ENST00000389002.1_Missense_Mutation_p.E70D|SKOR1_ENST00000554054.1_Missense_Mutation_p.E51D			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	79					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AGGTGGGCGAGACGTCGCTGT	0.652																																						dbGAP											0													50.0	48.0	49.0					15																	68118403		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.237G>C	15.37:g.68118403G>C	ENSP00000369374:p.Glu79Asp		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.E79D	ENST00000380035.2	37	c.237		15	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492290	0.64074	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.83	4.83	0.62350	.	0.111808	0.64402	D	0.000012	T	0.76357	0.3976	L	0.39898	1.24	0.45607	D	0.99854	P	0.40619	0.724	B	0.34452	0.183	T	0.80614	-0.1304	10	0.66056	D	0.02	-24.3992	16.5018	0.84259	0.0:0.0:1.0:0.0	.	70	P84550-3	.	D	265;40;51;79;70	ENSP00000343200:E265D;ENSP00000451193:E40D;ENSP00000452361:E51D;ENSP00000369374:E79D;ENSP00000373654:E70D	ENSP00000343200:E265D	E	+	3	2	SKOR1	65905457	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.783000	0.62403	2.220000	0.72140	0.561000	0.74099	GAG	SKOR1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000188779		0.652	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	16	0.00	0	G	NM_001031807		68118403	68118403	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	C
SLA	6503	genome.wustl.edu	37	8	134050912	134050912	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:134050912G>C	ENST00000338087.5	-	9	1507	c.688C>G	c.(688-690)Cga>Gga	p.R230G	SLA_ENST00000427060.2_Missense_Mutation_p.R270G|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.R247G|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.R203G|SLA_ENST00000524345.1_Missense_Mutation_p.R122G	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	230	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ATGCTCTCTCGAAGGCCATAG	0.532																																						dbGAP											0													139.0	121.0	127.0					8																	134050912		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.688C>G	8.37:g.134050912G>C	ENSP00000337548:p.Arg230Gly		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.R270G	ENST00000338087.5	37	c.808	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074364	0.76415	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	D;D;D;T;T	0.83591	-1.73;-1.74;-1.72;0.52;1.52	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	M	0.78456	2.415	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90858	0.4736	10	0.87932	D	0	-34.926	12.5884	0.56430	0.0:0.0:0.7428:0.2572	.	203;230;230;230	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	G	230;270;247;122;203	ENSP00000337548:R230G;ENSP00000394049:R270G;ENSP00000378759:R247G;ENSP00000427928:R122G;ENSP00000428559:R203G	ENSP00000337548:R230G	R	-	1	2	SLA	134120094	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	4.175000	0.58263	2.805000	0.96524	0.655000	0.94253	CGA	SLA	-	NULL	ENSG00000155926		0.532	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1	66	0.00	0	G			134050912	134050912	-1	no_errors	ENST00000427060	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	0.995	C
SLAMF9	89886	genome.wustl.edu	37	1	159921619	159921619	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:159921619G>A	ENST00000368093.3	-	4	818	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Silent_p.F143F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	234						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGGAGGCAGAAGGCTGTTG	0.512																																						dbGAP											0													88.0	82.0	84.0					1																	159921619		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.702C>T	1.37:g.159921619G>A			Q5JRQ9|Q5JRR0|Q6UWG1	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.F234	ENST00000368093.3	37	c.702	CCDS1191.1	1																																																																																			SLAMF9	-	NULL	ENSG00000162723		0.512	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF9	HGNC	protein_coding	OTTHUMT00000060630.1	53	0.00	0	G	NM_033438		159921619	159921619	-1	no_errors	ENST00000368093	ensembl	human	known	69_37n	silent	80	10.00	9	SNP	0.878	A
SLC14A1	6563	genome.wustl.edu	37	18	43314269	43314269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:43314269C>A	ENST00000321925.4	+	5	604	c.372C>A	c.(370-372)taC>taA	p.Y124*	SLC14A1_ENST00000591943.1_3'UTR|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000589700.1_Nonsense_Mutation_p.Y124*|SLC14A1_ENST00000415427.3_Nonsense_Mutation_p.Y180*|SLC14A1_ENST00000502059.2_Nonsense_Mutation_p.Y16*|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Nonsense_Mutation_p.Y180*|SLC14A1_ENST00000402943.2_Nonsense_Mutation_p.Y19*|SLC14A1_ENST00000586142.1_Nonsense_Mutation_p.Y124*	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	124					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTATGGCTACAATGCCACCC	0.493																																						dbGAP											0													178.0	160.0	166.0					18																	43314269		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.372C>A	18.37:g.43314269C>A	ENSP00000318546:p.Tyr124*		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Nonsense_Mutation	SNP	pfam_Urea_transporter	p.Y180*	ENST00000321925.4	37	c.540	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.348343	0.98228	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000436407	.	.	.	5.46	2.3	0.28687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1497	10.8633	0.46839	0.0:0.6748:0.0:0.3252	.	.	.	.	X	124;180;16;19;180	.	ENSP00000318546:Y124X	Y	+	3	2	SLC14A1	41568267	0.996000	0.38824	1.000000	0.80357	0.962000	0.63368	0.453000	0.21811	0.688000	0.31529	0.591000	0.81541	TAC	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.493	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	141	0.00	0	C	NM_015865		43314269	43314269	+1	no_errors	ENST00000415427	ensembl	human	known	69_37n	nonsense	95	20.17	24	SNP	1.000	A
SLC16A1	6566	genome.wustl.edu	37	1	113460161	113460161	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:113460161C>G	ENST00000538576.1	-	4	1698	c.867G>C	c.(865-867)aaG>aaC	p.K289N	SLC16A1_ENST00000433570.4_Missense_Mutation_p.K289N|SLC16A1_ENST00000369626.3_Missense_Mutation_p.K289N	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	289					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AATGCTGACTCTTCCCATAAC	0.433																																						dbGAP											0													69.0	69.0	69.0					1																	113460161		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.867G>C	1.37:g.113460161C>G	ENSP00000441065:p.Lys289Asn		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.K289N	ENST00000538576.1	37	c.867	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127319	0.56721	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.74	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.90145	3.09	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.79645	-0.1717	10	0.72032	D	0.01	.	11.0762	0.48032	0.0:0.8562:0.0:0.1438	.	289;289	Q49A45;P53985	.;MOT1_HUMAN	N	289	ENSP00000358640:K289N;ENSP00000441065:K289N;ENSP00000416167:K289N;ENSP00000445061:K289N;ENSP00000399104:K289N	ENSP00000358640:K289N	K	-	3	2	SLC16A1	113261684	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	3.018000	0.49625	1.568000	0.49683	0.563000	0.77884	AAG	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.433	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	34	0.00	0	C	NM_003051		113460161	113460161	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	G
SLC16A6	9120	genome.wustl.edu	37	17	66267692	66267692	+	Silent	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:66267692G>T	ENST00000327268.4	-	6	773	c.609C>A	c.(607-609)atC>atA	p.I203I	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.I203I	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	203					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTCTGATAAAGATGGGTCTGA	0.468																																						dbGAP											0													116.0	112.0	113.0					17																	66267692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.609C>A	17.37:g.66267692G>T			Q6P1X3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I203	ENST00000327268.4	37	c.609	CCDS11675.1	17																																																																																			SLC16A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000108932		0.468	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	HGNC	protein_coding	OTTHUMT00000448323.1	65	0.00	0	G	NM_004694		66267692	66267692	-1	no_errors	ENST00000327268	ensembl	human	known	69_37n	silent	85	19.05	20	SNP	0.001	T
SLC22A7	10864	genome.wustl.edu	37	6	43267186	43267186	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:43267186C>T	ENST00000372585.5	+	3	553	c.458C>T	c.(457-459)gCc>gTc	p.A153V	SLC22A7_ENST00000372589.3_Missense_Mutation_p.A151V|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.A151V	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	153					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TTCTTCTTCGCCGGTGTGCTG	0.562																																						dbGAP											0													118.0	113.0	115.0					6																	43267186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.458C>T	6.37:g.43267186C>T	ENSP00000361666:p.Ala153Val		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A153V	ENST00000372585.5	37	c.458	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	C	0.405	-0.916384	0.02415	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.79141	0.52;0.52;-1.24;-1.24;-1.24	5.08	-1.93	0.07594	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.290600	0.05362	N	0.533884	T	0.34395	0.0896	N	0.20304	0.555	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.34229	-0.9837	10	0.02654	T	1	.	10.926	0.47191	0.0:0.1601:0.0:0.8399	.	153;151;151	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	V	22;212;151;153;151	ENSP00000416052:A22V;ENSP00000411818:A212V;ENSP00000361670:A151V;ENSP00000361666:A153V;ENSP00000361655:A151V	ENSP00000361655:A151V	A	+	2	0	SLC22A7	43375164	0.000000	0.05858	0.003000	0.11579	0.357000	0.29423	0.495000	0.22483	-0.220000	0.09988	0.467000	0.42956	GCC	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.562	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	137	0.00	0	C			43267186	43267186	+1	no_errors	ENST00000372585	ensembl	human	known	69_37n	missense	66	22.35	19	SNP	0.000	T
SLC25A20	788	genome.wustl.edu	37	3	48896537	48896537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:48896537G>A	ENST00000319017.4	-	7	904	c.706C>T	c.(706-708)Cga>Tga	p.R236*	SLC25A20_ENST00000544097.1_Nonsense_Mutation_p.R186*|SLC25A20_ENST00000430379.1_Nonsense_Mutation_p.R163*	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	236					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTCTGGAATCGAGACTTGAGC	0.602																																						dbGAP											0													55.0	52.0	53.0					3																	48896537		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.706C>T	3.37:g.48896537G>A	ENSP00000326305:p.Arg236*		B2R7F4|Q9UIQ2	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R236*	ENST00000319017.4	37	c.706	CCDS2779.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.049527	0.98629	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	.	.	.	5.84	5.84	0.93424	.	0.093621	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0841	19.753	0.96275	0.0:0.0:1.0:0.0	.	.	.	.	X	163;236;186	.	ENSP00000326305:R236X	R	-	1	2	SLC25A20	48871541	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.512000	0.81728	2.767000	0.95098	0.555000	0.69702	CGA	SLC25A20	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000178537		0.602	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A20	HGNC	protein_coding	OTTHUMT00000257516.2	36	0.00	0	G	NM_000387		48896537	48896537	-1	no_errors	ENST00000319017	ensembl	human	known	69_37n	nonsense	13	35.00	7	SNP	1.000	A
SLC25A44	9673	genome.wustl.edu	37	1	156180300	156180300	+	3'UTR	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:156180300C>G	ENST00000359511.4	+	0	1195				PMF1_ENST00000368279.3_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|PMF1_ENST00000368273.4_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1_ENST00000565805.1_5'Flank|SLC25A44_ENST00000423538.2_3'UTR|PMF1_ENST00000368277.3_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					AGCACCCTCTCCAGGTGCTCC	0.597																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.*78C>G	1.37:g.156180300C>G			O75034	RNA	SNP	-	NULL	ENST00000359511.4	37	NULL	CCDS1133.1	1																																																																																			SLC25A44	-	-	ENSG00000160785		0.597	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	14	0.00	0	C	NM_014655		156180300	156180300	+1	no_errors	ENST00000469537	ensembl	human	known	69_37n	rna	11	38.89	7	SNP	0.000	G
SLC26A8	116369	genome.wustl.edu	37	6	35918970	35918970	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:35918970C>T	ENST00000490799.1	-	19	2795	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	SLC26A8_ENST00000355574.2_Silent_p.V814V|SLC26A8_ENST00000394602.2_Silent_p.V709V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTTCCCGTATCACTGTCTCGG	0.542																																						dbGAP											0													141.0	120.0	127.0					6																	35918970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2442G>A	6.37:g.35918970C>T				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.V814	ENST00000490799.1	37	c.2442	CCDS4813.1	6																																																																																			SLC26A8	-	NULL	ENSG00000112053		0.542	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	93	0.00	0	C			35918970	35918970	-1	no_errors	ENST00000355574	ensembl	human	known	69_37n	silent	40	22.64	12	SNP	0.999	T
SLC30A5	64924	genome.wustl.edu	37	5	68414432	68414432	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:68414432G>A	ENST00000396591.3	+	12	2156	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	516					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGATCCTCCAGAATTAGACAC	0.303																																						dbGAP											0													143.0	148.0	146.0					5																	68414432		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1546G>A	5.37:g.68414432G>A	ENSP00000379836:p.Glu516Lys		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E516K	ENST00000396591.3	37	c.1546	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457228	0.63401	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.67698	-0.28	6.06	6.06	0.98353	.	0.085944	0.85682	D	0.000000	T	0.71108	0.3301	L	0.55834	1.745	0.80722	D	1	B;B;B	0.32245	0.047;0.361;0.018	B;B;B	0.41174	0.215;0.349;0.063	T	0.68311	-0.5442	10	0.49607	T	0.09	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	345;345;516	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	K	516;129	ENSP00000379836:E516K	ENSP00000379836:E516K	E	+	1	0	SLC30A5	68450188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.152000	0.71812	2.880000	0.98712	0.650000	0.86243	GAA	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000145740		0.303	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	210	0.00	0	G			68414432	68414432	+1	no_errors	ENST00000396591	ensembl	human	known	69_37n	missense	139	27.98	54	SNP	1.000	A
SLC31A2	1318	genome.wustl.edu	37	9	115925089	115925089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:115925089C>A	ENST00000259392.3	+	4	457	c.324C>A	c.(322-324)taC>taA	p.Y108*		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	108					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	TCATCGGCTACTTCATCATGC	0.478																																						dbGAP											0													307.0	302.0	304.0					9																	115925089		2016	4186	6202	-	-	-	SO:0001587	stop_gained	0				CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"""Solute carriers"""	11017	protein-coding gene	gene with protein product	"""copper transporter 2"""	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.324C>A	9.37:g.115925089C>A	ENSP00000259392:p.Tyr108*			Nonsense_Mutation	SNP	pfam_Cop_transporter	p.Y108*	ENST00000259392.3	37	c.324	CCDS6788.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.534264	0.96460	.	.	ENSG00000136867	ENST00000259392	.	.	.	6.17	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.5005	9.1161	0.36758	0.0:0.8355:0.0:0.1645	.	.	.	.	X	108	.	ENSP00000259392:Y108X	Y	+	3	2	SLC31A2	114964910	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	2.357000	0.44125	0.943000	0.37553	0.655000	0.94253	TAC	SLC31A2	-	pfam_Cop_transporter	ENSG00000136867		0.478	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	HGNC	protein_coding	OTTHUMT00000055509.2	143	0.00	0	C	NM_001860		115925089	115925089	+1	no_errors	ENST00000259392	ensembl	human	known	69_37n	nonsense	110	14.73	19	SNP	1.000	A
SLC4A1AP	22950	genome.wustl.edu	37	2	27917512	27917512	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:27917512G>C	ENST00000326019.6	+	14	2635	c.2353G>C	c.(2353-2355)Gat>Cat	p.D785H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	785						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TCAAAGTGGAGATGGCAGAAC	0.358																																						dbGAP											0													99.0	96.0	97.0					2																	27917512		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2353G>C	2.37:g.27917512G>C	ENSP00000323837:p.Asp785His		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D785H	ENST00000326019.6	37	c.2353	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063908	0.76187	.	.	ENSG00000163798	ENST00000326019	T	0.62232	0.04	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80859	-0.1194	10	0.87932	D	0	-22.9137	17.0395	0.86484	0.0:0.0:1.0:0.0	.	785	Q9BWU0	NADAP_HUMAN	H	785	ENSP00000323837:D785H	ENSP00000323837:D785H	D	+	1	0	SLC4A1AP	27771016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.551000	0.73909	2.832000	0.97577	0.655000	0.94253	GAT	SLC4A1AP	-	NULL	ENSG00000163798		0.358	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	125	0.00	0	G	NM_018158		27917512	27917512	+1	no_errors	ENST00000326019	ensembl	human	known	69_37n	missense	72	25.77	25	SNP	1.000	C
SLC4A5	57835	genome.wustl.edu	37	2	74483038	74483039	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:74483038_74483039TC>AT	ENST00000377634.4	-	13	1287_1288	c.888_889GA>AT	c.(886-891)aaGAag>aaATag	p.K297*	SLC4A5_ENST00000357822.5_Nonsense_Mutation_p.K297*|SLC4A5_ENST00000359484.4_Nonsense_Mutation_p.K233*|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Nonsense_Mutation_p.K297*|SLC4A5_ENST00000358683.4_Nonsense_Mutation_p.K233*|SLC4A5_ENST00000423644.1_Nonsense_Mutation_p.K297*|SLC4A5_ENST00000346834.4_Nonsense_Mutation_p.K297*|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Nonsense_Mutation_p.K297*					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGGGGATCTTCTTCATGAATT	0.559																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.888_889delinsAT	2.37:g.74483038_74483039delinsAT	ENSP00000366861:p.Lys297*			Nonsense_Mutation|Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.K297*|p.K296	ENST00000377634.4	37	c.889|c.888	CCDS1936.1	2																																																																																			SLC4A5	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000188687		0.559	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	39	0.00	0	T|C			74483038|74483039	74483038|74483039	-1	no_errors	ENST00000357822	ensembl	human	known	69_37n	nonsense|silent	27	25.00	9	SNP	1.000	A|T
SLC5A7	60482	genome.wustl.edu	37	2	108618395	108618395	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:108618395G>A	ENST00000264047.2	+	6	916	c.640G>A	c.(640-642)Gac>Aac	p.D214N	SLC5A7_ENST00000540517.1_Missense_Mutation_p.D109N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D214N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	214					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGCAGTCGCAGACATCGGGTT	0.483																																						dbGAP											0													222.0	210.0	214.0					2																	108618395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.640G>A	2.37:g.108618395G>A	ENSP00000264047:p.Asp214Asn		Q53TF2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.D214N	ENST00000264047.2	37	c.640	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984536	0.74474	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92965	-2.87;-3.14;-2.87	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	L	0.60455	1.87	0.80722	D	1	P	0.36086	0.536	B	0.36464	0.225	D	0.89629	0.3854	10	0.34782	T	0.22	-20.4237	19.3766	0.94512	0.0:0.0:1.0:0.0	.	214	Q9GZV3	SC5A7_HUMAN	N	214;109;214	ENSP00000387346:D214N;ENSP00000445351:D109N;ENSP00000264047:D214N	ENSP00000264047:D214N	D	+	1	0	SLC5A7	107984827	1.000000	0.71417	0.962000	0.40283	0.970000	0.65996	6.785000	0.75089	2.580000	0.87095	0.643000	0.83706	GAC	SLC5A7	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	ENSG00000115665		0.483	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	135	0.00	0	G			108618395	108618395	+1	no_errors	ENST00000264047	ensembl	human	known	69_37n	missense	74	30.84	33	SNP	1.000	A
SLC5A7	60482	genome.wustl.edu	37	2	108626921	108626921	+	Silent	SNP	A	A	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:108626921A>G	ENST00000264047.2	+	9	1623	c.1347A>G	c.(1345-1347)ggA>ggG	p.G449G	SLC5A7_ENST00000540517.1_Silent_p.G344G|SLC5A7_ENST00000409059.1_Silent_p.G449G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	449					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAATAACTGGAGGGGAGCCAT	0.433																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1347A>G	2.37:g.108626921A>G			Q53TF2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.G449	ENST00000264047.2	37	c.1347	CCDS2074.1	2																																																																																			SLC5A7	-	pfscan_Na/solute_symporter	ENSG00000115665		0.433	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	136	0.00	0	A			108626921	108626921	+1	no_errors	ENST00000264047	ensembl	human	known	69_37n	silent	77	23.00	23	SNP	1.000	G
SLC6A2	6530	genome.wustl.edu	37	16	55729244	55729244	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:55729244C>T	ENST00000379906.2	+	7	1332	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	SLC6A2_ENST00000566163.1_Silent_p.F314F|SLC6A2_ENST00000561820.1_Silent_p.F359F|SLC6A2_ENST00000414754.3_Silent_p.F359F|SLC6A2_ENST00000567238.1_Silent_p.F254F|SLC6A2_ENST00000568943.1_Silent_p.F359F|SLC6A2_ENST00000219833.8_Silent_p.F359F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	359					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTCTGGGTTCGCCATCTTCT	0.577																																						dbGAP											0													185.0	126.0	146.0					16																	55729244		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1077C>T	16.37:g.55729244C>T			B2R707|B4DX48|Q96KH8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.F359	ENST00000379906.2	37	c.1077	CCDS10754.1	16																																																																																			SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000103546		0.577	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	58	0.00	0	C			55729244	55729244	+1	no_errors	ENST00000219833	ensembl	human	known	69_37n	silent	17	41.38	12	SNP	0.807	T
SLC9A1	6548	genome.wustl.edu	37	1	27436083	27436083	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:27436083G>A	ENST00000263980.3	-	3	1574	c.999C>T	c.(997-999)ttC>ttT	p.F333F	SLC9A1_ENST00000374086.3_Silent_p.F333F|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	333					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGAGGAAGACGAAGAGCGGCT	0.627																																						dbGAP											0													133.0	131.0	132.0					1																	27436083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.999C>T	1.37:g.27436083G>A			B1ALD6|D3DPL4|Q96EM2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F333	ENST00000263980.3	37	c.999	CCDS295.1	1																																																																																			SLC9A1	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000090020		0.627	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	65	0.00	0	G	NM_003047		27436083	27436083	-1	no_errors	ENST00000263980	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	1.000	A
SLC9B2	133308	genome.wustl.edu	37	4	103949982	103949982	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:103949982C>T	ENST00000394785.3	-	11	1945	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	SLC9B2_ENST00000362026.3_Silent_p.L438L|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000503230.1_Silent_p.L381L|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	438					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										AACACACCATCAGAAATGTAG	0.343																																						dbGAP											0													66.0	68.0	67.0					4																	103949982		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1314G>A	4.37:g.103949982C>T			B5ME52|Q6ZMD8|Q96D95	Silent	SNP	pfam_Cation/H_exchanger	p.L438	ENST00000394785.3	37	c.1314	CCDS3662.1	4																																																																																			SLC9B2	-	pfam_Cation/H_exchanger	ENSG00000164038		0.343	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B2	HGNC	protein_coding	OTTHUMT00000253805.1	73	0.00	0	C	NM_178833		103949982	103949982	-1	no_errors	ENST00000362026	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	0.728	T
SLC9C2	284525	genome.wustl.edu	37	1	173504976	173504976	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:173504976G>T	ENST00000367714.3	-	15	2190	c.1768C>A	c.(1768-1770)Cca>Aca	p.P590T	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	590					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TACTCAGGTGGAATAAAATGT	0.259																																						dbGAP											0													36.0	42.0	40.0					1																	173504976		2156	4224	6380	-	-	-	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1768C>A	1.37:g.173504976G>T	ENSP00000356687:p.Pro590Thr		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P590T	ENST00000367714.3	37	c.1768	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329282	0.24167	.	.	ENSG00000162753	ENST00000367714	T	0.05025	3.51	5.81	-2.18	0.07037	.	0.776613	0.10934	N	0.618043	T	0.01189	0.0039	L	0.42245	1.32	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.48917	-0.8992	10	0.23302	T	0.38	1.9265	0.6193	0.00775	0.2199:0.2443:0.2983:0.2374	.	590	Q5TAH2	S9A11_HUMAN	T	590	ENSP00000356687:P590T	ENSP00000356687:P590T	P	-	1	0	SLC9A11	171771599	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.869000	0.04232	-0.749000	0.04747	-0.199000	0.12753	CCA	SLC9C2	-	NULL	ENSG00000162753		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	37	0.00	0	G	NM_178527		173504976	173504976	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.000	T
SLCO1C1	53919	genome.wustl.edu	37	12	20852638	20852638	+	Splice_Site	SNP	A	A	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:20852638A>C	ENST00000266509.2	+	2	496	c.128A>C	c.(127-129)aAg>aCg	p.K43T	SLCO1C1_ENST00000381552.1_Splice_Site_p.K43T|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Splice_Site_p.K43T|SLCO1C1_ENST00000545604.1_Splice_Site_p.K43T	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	43					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GGTGAACTAAAGGTAGAGCAA	0.368																																						dbGAP											0													50.0	51.0	51.0					12																	20852638		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.129+1A>C	12.37:g.20852638A>C			B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.K43T	ENST00000266509.2	37	c.128	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966132	0.74131	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);	0.053050	0.85682	D	0.000000	T	0.80232	0.4585	M	0.92507	3.315	0.49389	D	0.999786	D;D;D	0.71674	0.996;0.998;0.991	D;D;D	0.76071	0.978;0.987;0.984	D	0.84431	0.0577	10	0.56958	D	0.05	.	13.1583	0.59531	1.0:0.0:0.0:0.0	.	43;43;43	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	T	43	ENSP00000444149:K43T;ENSP00000438665:K43T;ENSP00000266509:K43T;ENSP00000370964:K43T	ENSP00000266509:K43T	K	+	2	0	SLCO1C1	20743905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.497000	0.66924	2.045000	0.60652	0.528000	0.53228	AAG	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.368	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	38	0.00	0	A	NM_017435	Missense_Mutation	20852638	20852638	+1	no_errors	ENST00000381552	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	1.000	C
SLITRK5	26050	genome.wustl.edu	37	13	88328417	88328417	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:88328417G>A	ENST00000325089.6	+	2	993	c.774G>A	c.(772-774)ctG>ctA	p.L258L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	258	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATTCAGCCCTGGTGGGGGATG	0.488																																						dbGAP											0													100.0	100.0	100.0					13																	88328417		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.774G>A	13.37:g.88328417G>A			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L258	ENST00000325089.6	37	c.774	CCDS9465.1	13																																																																																			SLITRK5	-	smart_Cys-rich_flank_reg_C	ENSG00000165300		0.488	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	40	0.00	0	G			88328417	88328417	+1	no_errors	ENST00000325089	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.997	A
SLK	9748	genome.wustl.edu	37	10	105758977	105758977	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:105758977G>A	ENST00000369755.3	+	6	1233	c.688G>A	c.(688-690)Gag>Aag	p.E230K	SLK_ENST00000335753.4_Missense_Mutation_p.E230K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAAATGGCTGAGATAGAACC	0.418																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											0													80.0	78.0	78.0					10																	105758977		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.688G>A	10.37:g.105758977G>A	ENSP00000358770:p.Glu230Lys		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom	p.E230K	ENST00000369755.3	37	c.688	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958791	0.92726	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	D;T	0.85702	-2.02;2.0	5.68	3.66	0.41972	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060704	0.64402	D	0.000002	T	0.79857	0.4518	L	0.45137	1.4	0.49389	D	0.999784	D;P	0.54207	0.965;0.888	B;B	0.39904	0.313;0.216	T	0.83068	-0.0144	10	0.49607	T	0.09	.	16.7216	0.85411	0.0:0.2541:0.7459:0.0	.	230;230	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	230	ENSP00000336824:E230K;ENSP00000358770:E230K	ENSP00000336824:E230K	E	+	1	0	SLK	105748967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.543000	0.67225	2.677000	0.91161	0.591000	0.81541	GAG	SLK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065613		0.418	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	41	0.00	0	G	NM_014720		105758977	105758977	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	A
SMAD2	4087	genome.wustl.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423																																						dbGAP											5	Substitution - Nonsense(4)|Deletion - Frameshift(1)	large_intestine(4)|kidney(1)											162.0	130.0	141.0					18																	45368211		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1391C>G	18.37:g.45368211G>C	ENSP00000384449:p.Ser464*			Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S464*	ENST00000402690.2	37	c.1391	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.723736	0.98929	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA	SMAD2	-	pfscan_SMAD_dom_Dwarfin-type	ENSG00000175387		0.423	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	81	0.00	0	G	NM_005901		45368211	45368211	-1	no_errors	ENST00000262160	ensembl	human	known	69_37n	nonsense	56	29.11	23	SNP	1.000	C
SMARCA2	6595	genome.wustl.edu	37	9	2039663	2039663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:2039663C>T	ENST00000382203.1	+	4	762	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.Q185*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.Q185*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.Q185*|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	185	QLQ. {ECO:0000255|PROSITE- ProRule:PRU01001}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCTTCGAGCTCAGATTTTAGC	0.602																																						dbGAP											0													57.0	57.0	57.0					9																	2039663		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.553C>T	9.37:g.2039663C>T	ENSP00000371638:p.Gln185*		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.Q185*	ENST00000382203.1	37	c.553	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.636923	0.96693	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-28.7116	19.6091	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	X	185	.	ENSP00000265773:Q185X	Q	+	1	0	SMARCA2	2029663	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.811000	0.86092	2.650000	0.89964	0.655000	0.94253	CAG	SMARCA2	-	pfam_Gln-Leu-Gln_QLQ,smart_Gln-Leu-Gln_QLQ	ENSG00000080503		0.602	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	42	0.00	0	C	NM_003070		2039663	2039663	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	nonsense	28	12.50	4	SNP	1.000	T
SMARCC1	6599	genome.wustl.edu	37	3	47676820	47676820	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:47676820C>T	ENST00000254480.5	-	24	2625	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	836	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTGTTCTCTTCAGTCTCCTTT	0.393																																						dbGAP											0													143.0	133.0	137.0					3																	47676820		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2506G>A	3.37:g.47676820C>T	ENSP00000254480:p.Glu836Lys		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.E836K	ENST00000254480.5	37	c.2506	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873951	0.51695	.	.	ENSG00000173473	ENST00000254480	T	0.43294	0.95	5.63	5.63	0.86233	.	0.158055	0.56097	D	0.000038	T	0.37320	0.0999	L	0.38953	1.18	0.46678	D	0.999152	B	0.14805	0.011	B	0.16289	0.015	T	0.07121	-1.0789	10	0.34782	T	0.22	-17.0618	18.241	0.89967	0.0:1.0:0.0:0.0	.	836	Q92922	SMRC1_HUMAN	K	836	ENSP00000254480:E836K	ENSP00000254480:E836K	E	-	1	0	SMARCC1	47651824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.487000	0.53222	2.656000	0.90262	0.655000	0.94253	GAA	SMARCC1	-	NULL	ENSG00000173473		0.393	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	165	0.00	0	C			47676820	47676820	-1	no_errors	ENST00000254480	ensembl	human	known	69_37n	missense	122	18.67	28	SNP	1.000	T
SMC3	9126	genome.wustl.edu	37	10	112362728	112362728	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:112362728C>T	ENST00000361804.4	+	27	3569	c.3443C>T	c.(3442-3444)gCt>gTt	p.A1148V		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1148	Ala/Asp-rich (DA-box).				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTGACCAGGCTCTGGATGCT	0.403																																						dbGAP											0													102.0	102.0	102.0					10																	112362728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3443C>T	10.37:g.112362728C>T	ENSP00000354720:p.Ala1148Val		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.A1148V	ENST00000361804.4	37	c.3443	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491621	0.84962	.	.	ENSG00000108055	ENST00000361804	D	0.92199	-2.99	5.33	5.33	0.75918	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97779	1.0231	10	0.87932	D	0	.	19.0089	0.92865	0.0:1.0:0.0:0.0	.	1148	Q9UQE7	SMC3_HUMAN	V	1148	ENSP00000354720:A1148V	ENSP00000354720:A1148V	A	+	2	0	SMC3	112352718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.474000	0.81024	2.502000	0.84385	0.585000	0.79938	GCT	SMC3	-	pfam_RecF/RecN/SMC	ENSG00000108055		0.403	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	84	0.00	0	C	NM_005445		112362728	112362728	+1	no_errors	ENST00000361804	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	1.000	T
SMCHD1	23347	genome.wustl.edu	37	18	2666919	2666919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:2666919C>T	ENST00000320876.6	+	3	651	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q105*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	105					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTCGGTCAATCAGTTACTACT	0.393																																						dbGAP											0													108.0	96.0	100.0					18																	2666919		1913	4134	6047	-	-	-	SO:0001587	stop_gained	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.313C>T	18.37:g.2666919C>T	ENSP00000326603:p.Gln105*		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.Q105*	ENST00000320876.6	37	c.313	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.422439	0.97555	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8772	0.96880	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000261598:Q105X	Q	+	1	0	SMCHD1	2656919	1.000000	0.71417	0.885000	0.34714	0.082000	0.17680	7.462000	0.80851	2.774000	0.95407	0.585000	0.79938	CAG	SMCHD1	-	NULL	ENSG00000101596		0.393	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	45	0.00	0	C			2666919	2666919	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	nonsense	40	20.00	10	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18827805	18827805	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:18827805G>C	ENST00000446231.2	-	58	10533	c.10121C>G	c.(10120-10122)tCa>tGa	p.S3374*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S3375*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3374					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTGTGTGCTGACAAAAGCCA	0.418																																						dbGAP											0													88.0	85.0	86.0					16																	18827805		1921	4143	6064	-	-	-	SO:0001587	stop_gained	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10121C>G	16.37:g.18827805G>C	ENSP00000402515:p.Ser3374*		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	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.S3375*	ENST00000446231.2	37	c.10124	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	53	21.435419	0.99940	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	3374;3375	.	ENSP00000374118:S3375X	S	-	2	0	SMG1	18735306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.378000	0.52432	2.941000	0.99782	0.655000	0.94253	TCA	SMG1	-	NULL	ENSG00000157106		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	70	0.00	0	G	NM_015092		18827805	18827805	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	nonsense	52	11.86	7	SNP	1.000	C
SMG1	23049	genome.wustl.edu	37	16	18895441	18895441	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:18895441G>C	ENST00000446231.2	-	9	1482	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	SMG1_ENST00000389467.3_Missense_Mutation_p.S357C|SMG1_ENST00000565224.1_Missense_Mutation_p.S331C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	357	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAGAGTAGTAGAAAATGCAAG	0.378																																						dbGAP											0													46.0	41.0	42.0					16																	18895441		1820	4075	5895	-	-	-	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1070C>G	16.37:g.18895441G>C	ENSP00000402515:p.Ser357Cys		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	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.S357C	ENST00000446231.2	37	c.1070	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092482	0.76756	.	.	ENSG00000157106	ENST00000446231;ENST00000389467;ENST00000532700	T;T;T	0.69435	-0.4;-0.4;2.5	5.47	5.47	0.80525	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.76314	0.3970	L	0.35854	1.095	0.51233	D	0.999915	D	0.76494	0.999	D	0.74674	0.984	T	0.78432	-0.2206	10	0.87932	D	0	.	19.3158	0.94213	0.0:0.0:1.0:0.0	.	357	Q96Q15	SMG1_HUMAN	C	357;357;331	ENSP00000402515:S357C;ENSP00000374118:S357C;ENSP00000432825:S331C	ENSP00000374118:S357C	S	-	2	0	SMG1	18802942	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.696000	0.98695	2.577000	0.86979	0.555000	0.69702	TCT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.378	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	46	0.00	0	G	NM_015092		18895441	18895441	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	C
SMO	6608	genome.wustl.edu	37	7	128845151	128845151	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:128845151C>G	ENST00000249373.3	+	3	925	c.645C>G	c.(643-645)atC>atG	p.I215M		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	215					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GCTGCGGCATCCAGTGCCAGA	0.612			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													61.0	57.0	58.0					7																	128845151		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.645C>G	7.37:g.128845151C>G	ENSP00000249373:p.Ile215Met		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.I215M	ENST00000249373.3	37	c.645	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501798	0.64298	.	.	ENSG00000128602	ENST00000249373	T	0.79141	-1.24	5.75	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	L	0.53249	1.67	0.58432	D	0.999999	P	0.41041	0.736	B	0.41988	0.372	T	0.70107	-0.4963	10	0.51188	T	0.08	.	10.5083	0.44847	0.0:0.7881:0.0:0.2119	.	215	Q99835	SMO_HUMAN	M	215	ENSP00000249373:I215M	ENSP00000249373:I215M	I	+	3	3	SMO	128632387	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.667000	0.46808	0.347000	0.23924	0.555000	0.69702	ATC	SMO	-	NULL	ENSG00000128602		0.612	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	40	0.00	0	C	NM_005631		128845151	128845151	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	G
SMTNL1	219537	genome.wustl.edu	37	11	57310448	57310448	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:57310448G>A	ENST00000399154.2	+	1	333	c.333G>A	c.(331-333)atG>atA	p.M111I	SMTNL1_ENST00000457912.1_Missense_Mutation_p.M129I|SMTNL1_ENST00000527972.1_Missense_Mutation_p.M111I			A8MU46	SMTL1_HUMAN	smoothelin-like 1	111	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CTCAGGAGATGACTGGCAGGA	0.522																																						dbGAP											0													41.0	43.0	42.0					11																	57310448		1978	4168	6146	-	-	-	SO:0001583	missense	0			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.333G>A	11.37:g.57310448G>A	ENSP00000382108:p.Met111Ile			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.M129I	ENST00000399154.2	37	c.387		11	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405060	0.25378	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02421	4.3;4.3;4.34	4.64	0.504	0.16946	.	1.530180	0.04853	U	0.442732	T	0.02267	0.0070	N	0.24115	0.695	0.09310	N	1	B	0.23806	0.091	B	0.15870	0.014	T	0.48293	-0.9048	10	0.17832	T	0.49	0.3183	4.6588	0.12632	0.0874:0.4506:0.3172:0.1448	.	129	C9J621	.	I	129;111;111	ENSP00000406485:M129I;ENSP00000432651:M111I;ENSP00000382108:M111I	ENSP00000382108:M111I	M	+	3	0	SMTNL1	57067024	0.005000	0.15991	0.000000	0.03702	0.042000	0.13812	1.608000	0.36847	-0.055000	0.13244	-0.181000	0.13052	ATG	SMTNL1	-	NULL	ENSG00000214872		0.522	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		58	0.00	0	G	XM_166203		57310448	57310448	+1	no_errors	ENST00000457912	ensembl	human	known	69_37n	missense	22	23.33	7	SNP	0.000	A
TCP1	6950	genome.wustl.edu	37	6	160206679	160206679	+	Intron	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:160206679C>G	ENST00000321394.7	-	5	658				TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000546023.1_5'Flank|SNORA29_ENST00000384183.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AACCCTCCCTCTTCAGATCAT	0.368																																						dbGAP											0													189.0	195.0	193.0					6																	160206679		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.378-151G>C	6.37:g.160206679C>G			E1P5B2|Q15556|Q5TCM3	RNA	SNP	-	NULL	ENST00000321394.7	37	NULL	CCDS5269.1	6																																																																																			SNORA29	-	-	ENSG00000206910		0.368	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA29	HGNC	protein_coding	OTTHUMT00000042917.2	12	0.00	0	C	NM_030752		160206679	160206679	-1	no_errors	ENST00000384183	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	1.000	G
SNX13	23161	genome.wustl.edu	37	7	17873687	17873687	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:17873687C>G	ENST00000409389.1	-	15	1757	c.1585G>C	c.(1585-1587)Gat>Cat	p.D529H	SNX13_ENST00000428135.3_Missense_Mutation_p.D529H			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	529					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CCATCCCCATCATCGGATCCT	0.353																																						dbGAP											0													61.0	56.0	58.0					7																	17873687		1904	4123	6027	-	-	-	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1585G>C	7.37:g.17873687C>G	ENSP00000386705:p.Asp529His		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D529H	ENST00000409389.1	37	c.1585		7	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527106	0.85706	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.19394	2.15;2.4	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	P;P;D	0.78314	0.846;0.887;0.991	T	0.05146	-1.0903	10	0.42905	T	0.14	-14.6877	19.3779	0.94518	0.0:1.0:0.0:0.0	.	326;529;529	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	H	529;529;577	ENSP00000386705:D529H;ENSP00000398789:D529H	ENSP00000242044:D577H	D	-	1	0	SNX13	17840212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.576000	0.86940	0.637000	0.83480	GAT	SNX13	-	NULL	ENSG00000071189		0.353	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	77	0.00	0	C	NM_015132		17873687	17873687	-1	no_errors	ENST00000428135	ensembl	human	novel	69_37n	missense	58	10.77	7	SNP	1.000	G
SNX15	29907	genome.wustl.edu	37	11	64802327	64802327	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:64802327G>A	ENST00000377244.3	+	4	395	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.E89K	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	89	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						AGGCCGGTTTGAAGCCTCAGT	0.617																																					Esophageal Squamous(56;269 1304 3324 8253)	dbGAP											0													56.0	55.0	55.0					11																	64802327		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.265G>A	11.37:g.64802327G>A	ENSP00000366452:p.Glu89Lys		E5KQS6|Q9NRS5	Missense_Mutation	SNP	pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox	p.E89K	ENST00000377244.3	37	c.265	CCDS8089.1	11	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224914	0.58668	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.24	5.24	0.73138	Phox homologous domain (5);	0.056664	0.64402	D	0.000002	T	0.47783	0.1464	L	0.33093	0.98	0.80722	D	1	P;B;D	0.64830	0.885;0.166;0.994	P;B;D	0.64506	0.589;0.092;0.926	T	0.39722	-0.9600	10	0.45353	T	0.12	-16.4541	16.3129	0.82904	0.0:0.0:1.0:0.0	.	89;89;89	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	K	89;85;77;89	ENSP00000366452:E89K;ENSP00000437277:E85K;ENSP00000431690:E77K;ENSP00000316410:E89K	ENSP00000316410:E89K	E	+	1	0	SNX15	64558903	1.000000	0.71417	0.870000	0.34147	0.083000	0.17756	9.006000	0.93592	2.461000	0.83175	0.455000	0.32223	GAA	SNX15	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000110025		0.617	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX15	HGNC	protein_coding	OTTHUMT00000091004.3	29	0.00	0	G			64802327	64802327	+1	no_errors	ENST00000377244	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	1.000	A
SNX16	64089	genome.wustl.edu	37	8	82736169	82736169	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:82736169C>G	ENST00000345957.4	-	4	747	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	SNX16_ENST00000353788.4_Missense_Mutation_p.E128Q|SNX16_ENST00000396330.2_Missense_Mutation_p.E157Q	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	157	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GGAAACATCTCTTTTAACTGA	0.323																																						dbGAP											0													55.0	54.0	55.0					8																	82736169		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.469G>C	8.37:g.82736169C>G	ENSP00000322652:p.Glu157Gln		A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E157Q	ENST00000345957.4	37	c.469	CCDS6234.1	8	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062099	0.55432	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957;ENST00000523757;ENST00000521810	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.78	5.78	0.91487	Phox homologous domain (5);	0.247387	0.46758	D	0.000262	T	0.33469	0.0864	N	0.12637	0.245	0.58432	D	0.999998	B;B	0.26935	0.164;0.037	B;B	0.36244	0.22;0.088	T	0.12142	-1.0559	10	0.17832	T	0.49	-13.3027	20.0119	0.97458	0.0:1.0:0.0:0.0	.	128;157	Q658L0;P57768	.;SNX16_HUMAN	Q	128;157;157;128;157	ENSP00000322631:E128Q;ENSP00000379621:E157Q;ENSP00000322652:E157Q;ENSP00000430038:E128Q;ENSP00000428734:E157Q	ENSP00000322652:E157Q	E	-	1	0	SNX16	82898724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.733000	0.93635	0.591000	0.81541	GAG	SNX16	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000104497		0.323	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX16	HGNC	protein_coding	OTTHUMT00000379929.1	63	0.00	0	C	NM_022133		82736169	82736169	-1	no_errors	ENST00000345957	ensembl	human	known	69_37n	missense	61	30.68	27	SNP	1.000	G
SNX17	9784	genome.wustl.edu	37	2	27599023	27599023	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:27599023G>A	ENST00000233575.2	+	12	1377	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	SNX17_ENST00000542478.1_Silent_p.V171V|SNX17_ENST00000543024.1_Silent_p.V171V|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Silent_p.V360V	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	385	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGATGGTGAAGAAATCTG	0.522																																						dbGAP											0													140.0	130.0	133.0					2																	27599023		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1155G>A	2.37:g.27599023G>A			B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.V385	ENST00000233575.2	37	c.1155	CCDS1750.1	2																																																																																			SNX17	-	NULL	ENSG00000115234		0.522	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	34	0.00	0	G	NM_014748		27599023	27599023	+1	no_errors	ENST00000233575	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	1.000	A
SOGA1	140710	genome.wustl.edu	37	20	35467841	35467841	+	5'UTR	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:35467841C>T	ENST00000357779.3	-	0	303				SOGA1_ENST00000279034.6_5'UTR|SOGA1_ENST00000237536.4_Missense_Mutation_p.E231K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1						insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCTCAATCTCGTCCTGCGGA	0.617																																						dbGAP											0													25.0	27.0	26.0					20																	35467841		2093	4219	6312	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.-24G>A	20.37:g.35467841C>T			A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_DUF3166	p.E231K	ENST00000357779.3	37	c.691		20	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624159	0.87560	.	.	ENSG00000149639	ENST00000237536	T	0.34072	1.38	4.86	4.86	0.63082	.	0.000000	0.40818	N	0.001007	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58352	-0.7651	7	0.56958	D	0.05	-33.6773	16.9289	0.86184	0.0:1.0:0.0:0.0	.	.	.	.	K	231	ENSP00000237536:E231K	ENSP00000237536:E231K	E	-	1	0	KIAA0889	34901255	1.000000	0.71417	0.958000	0.39756	0.416000	0.31233	7.535000	0.82014	2.517000	0.84864	0.491000	0.48974	GAG	SOGA1	-	NULL	ENSG00000149639		0.617	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		36	0.00	0	C	NM_199181		35467841	35467841	-1	no_errors	ENST00000237536	ensembl	human	novel	69_37n	missense	10	33.33	5	SNP	1.000	T
SORBS1	10580	genome.wustl.edu	37	10	97117484	97117484	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:97117484C>T	ENST00000361941.3	-	21	2058	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SORBS1_ENST00000371239.1_Missense_Mutation_p.E455K|SORBS1_ENST00000607232.1_Missense_Mutation_p.E445K|SORBS1_ENST00000371247.2_Missense_Mutation_p.E678K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E490K|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Missense_Mutation_p.E632K|SORBS1_ENST00000393949.1_Missense_Mutation_p.E648K|SORBS1_ENST00000371245.3_Missense_Mutation_p.E529K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E648K|SORBS1_ENST00000277982.5_Missense_Mutation_p.E700K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E425K|SORBS1_ENST00000371246.2_Missense_Mutation_p.E700K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E516K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E529K|SORBS1_ENST00000371241.1_Missense_Mutation_p.E384K	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATTTGTCTCTCATTCTCCAAG	0.458																																						dbGAP											0													73.0	71.0	71.0					10																	97117484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2032G>A	10.37:g.97117484C>T	ENSP00000355136:p.Glu678Lys			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.E678K	ENST00000361941.3	37	c.2032	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.487867	0.96323	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.7	5.7	0.88788	.	0.000000	0.37261	N	0.002170	T	0.67887	0.2941	L	0.58101	1.795	0.80722	D	1	D;P;D;D;D;D;D;D;D;D;D;D;P	0.76494	0.998;0.951;0.998;0.97;0.996;0.964;0.998;0.998;0.997;0.999;0.996;0.998;0.925	D;P;D;P;D;P;D;D;D;D;D;D;P	0.87578	0.993;0.622;0.998;0.888;0.94;0.774;0.997;0.971;0.995;0.997;0.966;0.998;0.548	T	0.68492	-0.5394	10	0.72032	D	0.01	-18.0214	19.8379	0.96666	0.0:1.0:0.0:0.0	.	746;393;632;516;425;384;455;529;678;700;490;648;172	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	K	529;425;516;678;632;700;648;529;490;678;700;384;648;455	ENSP00000360291:E529K;ENSP00000302556:E425K;ENSP00000360295:E516K;ENSP00000360293:E678K;ENSP00000360271:E632K;ENSP00000360292:E700K;ENSP00000377521:E648K;ENSP00000343998:E529K;ENSP00000277985:E490K;ENSP00000355136:E678K;ENSP00000277982:E700K;ENSP00000360285:E384K;ENSP00000277984:E648K;ENSP00000360283:E455K	ENSP00000277982:E700K	E	-	1	0	SORBS1	97107474	1.000000	0.71417	0.969000	0.41365	0.934000	0.57294	7.212000	0.77941	2.694000	0.91930	0.555000	0.69702	GAG	SORBS1	-	NULL	ENSG00000095637		0.458	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	63	0.00	0	C			97117484	97117484	-1	no_errors	ENST00000361941	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	1.000	T
SOS2	6655	genome.wustl.edu	37	14	50671070	50671070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:50671070C>A	ENST00000216373.5	-	2	419	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	SOS2_ENST00000543680.1_Nonsense_Mutation_p.E49*	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	49					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATCAGCTCTTCAATATAATAG	0.333																																						dbGAP											0													134.0	144.0	141.0					14																	50671070		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.145G>T	14.37:g.50671070C>A	ENSP00000216373:p.Glu49*		B7ZKT6|D3DSB4|Q15503|Q17RN1	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E49*	ENST00000216373.5	37	c.145	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384886	0.82792	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000216373:E49X	E	-	1	0	SOS2	49740820	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.741000	0.84997	2.605000	0.88082	0.655000	0.94253	GAA	SOS2	-	superfamily_Histone-fold	ENSG00000100485		0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	72	0.00	0	C			50671070	50671070	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	nonsense	72	12.20	10	SNP	1.000	A
SOX5	6660	genome.wustl.edu	37	12	23728724	23728724	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:23728724C>T	ENST00000451604.2	-	10	1314	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	SOX5_ENST00000545921.1_Missense_Mutation_p.D395N|SOX5_ENST00000546136.1_Missense_Mutation_p.D392N|SOX5_ENST00000537393.1_Missense_Mutation_p.D370N|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.D19N|SOX5_ENST00000309359.1_Missense_Mutation_p.D392N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	405					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GATTTGCCATCAGAGGTCTTG	0.498																																						dbGAP											0													179.0	176.0	177.0					12																	23728724		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1213G>A	12.37:g.23728724C>T	ENSP00000398273:p.Asp405Asn		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D405N	ENST00000451604.2	37	c.1213	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.195502	0.94960	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.26;-4.33	5.09	5.09	0.68999	.	0.101694	0.64402	D	0.000002	D	0.95319	0.8481	L	0.38175	1.15	0.80722	D	1	B;B;P	0.40731	0.144;0.262;0.728	B;B;B	0.41764	0.127;0.131;0.366	D	0.95622	0.8682	10	0.56958	D	0.05	.	18.8434	0.92194	0.0:1.0:0.0:0.0	.	370;405;19	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	N	392;392;405;357;370;19;395	ENSP00000437487:D392N;ENSP00000308927:D392N;ENSP00000398273:D405N;ENSP00000439832:D370N;ENSP00000379328:D19N;ENSP00000443520:D395N	ENSP00000308927:D392N	D	-	1	0	SOX5	23619991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.962000	0.76048	2.536000	0.85505	0.491000	0.48974	GAT	SOX5	-	NULL	ENSG00000134532		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	142	0.00	0	C	NM_006940		23728724	23728724	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	missense	120	24.05	38	SNP	1.000	T
SPAG4	6676	genome.wustl.edu	37	20	34208630	34208630	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:34208630G>A	ENST00000374273.3	+	11	1214	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	368	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGATGAAACTGAAGTTTCCTT	0.522																																						dbGAP											0													99.0	112.0	108.0					20																	34208630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1102G>A	20.37:g.34208630G>A	ENSP00000363391:p.Glu368Lys		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E368K	ENST00000374273.3	37	c.1102	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520999	0.85495	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.81330	-1.38;-1.48	5.22	5.22	0.72569	Sad1/UNC-like, C-terminal (2);	0.206886	0.44902	D	0.000410	D	0.84456	0.5476	L	0.37697	1.125	0.39494	D	0.968093	D	0.71674	0.998	D	0.79108	0.992	D	0.85673	0.1296	10	0.59425	D	0.04	-9.1571	14.1426	0.65329	0.0:0.0:1.0:0.0	.	368	Q9NPE6	SPAG4_HUMAN	K	368;72	ENSP00000363391:E368K;ENSP00000399231:E72K	ENSP00000363391:E368K	E	+	1	0	SPAG4	33672044	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.674000	0.61612	2.706000	0.92434	0.655000	0.94253	GAA	SPAG4	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000061656		0.522	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	48	0.00	0	G	NM_003116		34208630	34208630	+1	no_errors	ENST00000374273	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	A
SPATA1	100505741	genome.wustl.edu	37	1	84991642	84991642	+	RNA	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:84991642G>C	ENST00000370638.2	+	0	695							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		TAATGAGGCTGATGGAACAAT	0.363																																						dbGAP											0													48.0	48.0	48.0					1																	84991642		2203	4300	6503	-	-	-			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84991642G>C			A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	-	NULL	ENST00000370638.2	37	NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.363	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	37	0.00	0	G	NM_022354		84991642	84991642	+1	no_errors	ENST00000370638	ensembl	human	known	69_37n	rna	36	12.20	5	SNP	0.000	C
SPEG	10290	genome.wustl.edu	37	2	220341673	220341673	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:220341673G>A	ENST00000312358.7	+	19	4661	c.4529G>A	c.(4528-4530)gGa>gAa	p.G1510E	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1510	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGGTCGAGGGAAAACCACTG	0.632																																						dbGAP											0													70.0	76.0	74.0					2																	220341673		2075	4210	6285	-	-	-	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4529G>A	2.37:g.220341673G>A	ENSP00000311684:p.Gly1510Glu		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1510E	ENST00000312358.7	37	c.4529	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	g	21.7	4.190357	0.78789	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.78003	-1.14	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36002	U	0.002853	D	0.93145	0.7817	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95861	0.8883	10	0.87932	D	0	.	18.7126	0.91662	0.0:0.0:1.0:0.0	.	1510	Q15772	SPEG_HUMAN	E	1510	ENSP00000311684:G1510E	ENSP00000265327:G1510E	G	+	2	0	SPEG	220049917	1.000000	0.71417	0.969000	0.41365	0.913000	0.54294	9.448000	0.97600	2.414000	0.81942	0.586000	0.80456	GGA	SPEG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000072195		0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	44	0.00	0	G	NM_005876		220341673	220341673	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	missense	18	21.74	5	SNP	1.000	A
SPICE1	152185	genome.wustl.edu	37	3	113169309	113169309	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:113169309C>T	ENST00000295872.4	-	15	2456	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	733					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.E733*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CGATTCAATTCTGCAATCCGT	0.398																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											118.0	111.0	113.0					3																	113169309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2197G>A	3.37:g.113169309C>T	ENSP00000295872:p.Glu733Lys		D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.E733K	ENST00000295872.4	37	c.2197	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996000	0.93167	.	.	ENSG00000163611	ENST00000295872	T	0.68903	-0.36	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.74258	2.255	0.44719	D	0.997717	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.83484	0.0066	10	0.87932	D	0	-20.3703	16.3533	0.83225	0.0:1.0:0.0:0.0	.	629;733	B3KX77;Q8N0Z3	.;SPICE_HUMAN	K	733	ENSP00000295872:E733K	ENSP00000295872:E733K	E	-	1	0	SPICE1	114651999	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.264000	0.58859	2.660000	0.90430	0.557000	0.71058	GAA	SPICE1	-	NULL	ENSG00000163611		0.398	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	92	0.00	0	C	NM_144718		113169309	113169309	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	T
SPPL3	121665	genome.wustl.edu	37	12	121220515	121220515	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:121220515G>A	ENST00000353487.2	-	6	948	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	150						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATGACAGACAGAGAGAATGAC	0.433																																						dbGAP											0													154.0	112.0	126.0					12																	121220515		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.445C>T	12.37:g.121220515G>A			Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.L149	ENST00000353487.2	37	c.445	CCDS9208.1	12																																																																																			SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	ENSG00000157837		0.433	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	52	0.00	0	G	NM_139015		121220515	121220515	-1	no_errors	ENST00000353487	ensembl	human	known	69_37n	silent	51	25.00	17	SNP	0.999	A
SPTLC2	9517	genome.wustl.edu	37	14	77978728	77978728	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:77978728C>T	ENST00000216484.2	-	12	1781	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	530					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TCCCCAACTTCATCTATCTCC	0.453																																						dbGAP											0													112.0	106.0	108.0					14																	77978728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1588G>A	14.37:g.77978728C>T	ENSP00000216484:p.Glu530Lys		Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E530K	ENST00000216484.2	37	c.1588	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396462	0.83011	.	.	ENSG00000100596	ENST00000216484	D	0.95205	-3.64	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.87881	0.6289	N	0.08118	0	0.80722	D	1	B	0.32245	0.361	B	0.27170	0.077	D	0.85783	0.1362	10	0.33141	T	0.24	-23.6763	19.5768	0.95447	0.0:1.0:0.0:0.0	.	530	O15270	SPTC2_HUMAN	K	530	ENSP00000216484:E530K	ENSP00000216484:E530K	E	-	1	0	SPTLC2	77048481	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	2.617000	0.88574	0.644000	0.83932	GAA	SPTLC2	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000100596		0.453	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	79	0.00	0	C	NM_004863		77978728	77978728	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	52	25.35	18	SNP	1.000	T
SPTY2D1	144108	genome.wustl.edu	37	11	18633094	18633094	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:18633094C>T	ENST00000336349.5	-	5	2129	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	632										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TCACTTTCATCTTTGTATCTG	0.313																																						dbGAP											0													162.0	150.0	154.0					11																	18633094		2198	4293	6491	-	-	-	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1894G>A	11.37:g.18633094C>T	ENSP00000337991:p.Asp632Asn		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.D632N	ENST00000336349.5	37	c.1894	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.091629	0.94149	.	.	ENSG00000179119	ENST00000336349	T	0.60797	0.16	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73433	-0.3984	10	0.62326	D	0.03	-17.301	19.9212	0.97085	0.0:1.0:0.0:0.0	.	632	Q68D10	SPT2_HUMAN	N	632	ENSP00000337991:D632N	ENSP00000337991:D632N	D	-	1	0	SPTY2D1	18589670	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.472000	0.66768	2.712000	0.92718	0.563000	0.77884	GAT	SPTY2D1	-	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	ENSG00000179119		0.313	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	156	0.00	0	C	NM_194285		18633094	18633094	-1	no_errors	ENST00000336349	ensembl	human	known	69_37n	missense	146	10.43	17	SNP	1.000	T
SRGAP1	57522	genome.wustl.edu	37	12	64505738	64505738	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:64505738G>A	ENST00000355086.3	+	17	2640	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E643K|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E683K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	706					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCCTGTTTATGAGAAATGTAT	0.388																																						dbGAP											0													128.0	120.0	122.0					12																	64505738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2116G>A	12.37:g.64505738G>A	ENSP00000347198:p.Glu706Lys		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E706K	ENST00000355086.3	37	c.2116	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.404884	0.96051	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.21191	3.05;2.61;2.02	5.05	5.05	0.67936	.	0.000000	0.35013	U	0.003518	T	0.40719	0.1128	M	0.87180	2.865	0.80722	D	1	P;P	0.40302	0.615;0.712	B;P	0.44673	0.269;0.457	T	0.44345	-0.9334	9	.	.	.	.	18.7984	0.92005	0.0:0.0:1.0:0.0	.	706;643	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	K	706;683;643	ENSP00000347198:E706K;ENSP00000350480:E683K;ENSP00000437948:E643K	.	E	+	1	0	SRGAP1	62792005	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.787000	0.99055	2.523000	0.85059	0.555000	0.69702	GAG	SRGAP1	-	NULL	ENSG00000196935		0.388	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	104	0.00	0	G			64505738	64505738	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	72	17.24	15	SNP	1.000	A
SRM	6723	genome.wustl.edu	37	1	11116764	11116764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:11116764G>T	ENST00000376957.2	-	4	512	c.432C>A	c.(430-432)taC>taA	p.Y144*		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	144	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	TCGAGCTAGAGTAGCCAATGG	0.562																																						dbGAP											0													100.0	88.0	92.0					1																	11116764		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.432C>A	1.37:g.11116764G>T	ENSP00000366156:p.Tyr144*		B1AKP9|Q15511	Nonsense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.Y144*	ENST00000376957.2	37	c.432	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225890	0.79576	.	.	ENSG00000116649	ENST00000376957	.	.	.	5.35	4.44	0.53790	.	0.245363	0.42172	D	0.000754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	7.5174	0.27608	0.2585:0.0:0.7415:0.0	.	.	.	.	X	144	.	ENSP00000366156:Y144X	Y	-	3	2	SRM	11039351	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.402000	0.34600	1.393000	0.46605	-0.254000	0.11334	TAC	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.562	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	91	0.00	0	G	NM_003132		11116764	11116764	-1	no_errors	ENST00000376957	ensembl	human	known	69_37n	nonsense	49	19.67	12	SNP	1.000	T
SRR	63826	genome.wustl.edu	37	17	2227019	2227020	+	Missense_Mutation	DNP	CT	CT	GG	rs77340213		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:2227019_2227020CT>GG	ENST00000344595.5	+	8	1193_1194	c.875_876CT>GG	c.(874-876)gCT>gGG	p.A292G	SRR_ENST00000576848.1_Missense_Mutation_p.A66G|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	292					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	GGAGTGGCTGCTGTGCTGTCTC	0.45																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	Exception_encountered	17.37:g.2227019_2227020delinsGG	ENSP00000339435:p.Ala292Gly		D3DTI5|Q6IA55	Missense_Mutation|Silent	SNP	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	p.A292G|p.A292	ENST00000344595.5	37	c.875|c.876	CCDS11017.1	17																																																																																			SRR	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	ENSG00000167720		0.450	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRR	HGNC	protein_coding	OTTHUMT00000207129.2	105|93	0.94|0.00	1|0	C|T	NM_021947		2227019|2227020	2227019|2227020	+1	no_errors	ENST00000344595	ensembl	human	known	69_37n	missense|silent	51|52	27.14|22.06	19|15	SNP	1.000	G
STAB2	55576	genome.wustl.edu	37	12	104134419	104134419	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:104134419G>C	ENST00000388887.2	+	55	5970	c.5766G>C	c.(5764-5766)caG>caC	p.Q1922H		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTGAAGCAGAAGTGTCTCT	0.577																																						dbGAP											0													87.0	83.0	84.0					12																	104134419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5766G>C	12.37:g.104134419G>C	ENSP00000373539:p.Gln1922His			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.Q1922H	ENST00000388887.2	37	c.5766	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031222	0.35797	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.89343	-2.5	5.46	2.05	0.26809	.	0.501324	0.20312	N	0.094820	D	0.86768	0.6012	M	0.80746	2.51	0.24512	N	0.994201	P	0.40266	0.71	B	0.41988	0.372	T	0.74463	-0.3657	10	0.13108	T	0.6	.	6.9183	0.24371	0.2106:0.1497:0.6397:0.0	.	1922	Q8WWQ8	STAB2_HUMAN	H	1922;609	ENSP00000373539:Q1922H	ENSP00000258495:Q609H	Q	+	3	2	STAB2	102658549	0.194000	0.23325	0.986000	0.45419	0.404000	0.30871	-0.134000	0.10436	0.584000	0.29591	0.655000	0.94253	CAG	STAB2	-	NULL	ENSG00000136011		0.577	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	34	0.00	0	G			104134419	104134419	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.996	C
SRSF9	8683	genome.wustl.edu	37	12	120899912	120899912	+	Nonsense_Mutation	SNP	G	G	T	rs201844994		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:120899912G>T	ENST00000229390.3	-	4	759	c.576C>A	c.(574-576)taC>taA	p.Y192*		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	192	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y192*(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGACCGTGAGTAGCCATAGC	0.483																																						dbGAP											1	Substitution - Nonsense(1)	prostate(1)											51.0	47.0	49.0					12																	120899912		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.576C>A	12.37:g.120899912G>T	ENSP00000229390:p.Tyr192*		Q52LD1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y192*	ENST00000229390.3	37	c.576	CCDS9199.1	12	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022684	0.93462	.	.	ENSG00000111786	ENST00000229390	.	.	.	5.87	0.828	0.18841	.	0.197792	0.45606	D	0.000358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6448	0.39861	0.3654:0.0:0.6346:0.0	.	.	.	.	X	192	.	ENSP00000229390:Y192X	Y	-	3	2	SRSF9	119384295	0.990000	0.36364	0.996000	0.52242	0.999000	0.98932	0.093000	0.15086	-0.043000	0.13513	0.655000	0.94253	TAC	SRSF9	-	NULL	ENSG00000111786		0.483	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF9	HGNC	protein_coding	OTTHUMT00000108983.2	65	0.00	0	G	NM_003769		120899912	120899912	-1	no_errors	ENST00000229390	ensembl	human	known	69_37n	nonsense	32	23.81	10	SNP	1.000	T
STAC	6769	genome.wustl.edu	37	3	36534670	36534670	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:36534670G>A	ENST00000273183.3	+	6	1015	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.E178K	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	239					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGTTCCTGAGGAAGCCAATGG	0.488																																						dbGAP											0													103.0	105.0	105.0					3																	36534670		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.715G>A	3.37:g.36534670G>A	ENSP00000273183:p.Glu239Lys		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E239K	ENST00000273183.3	37	c.715	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006922	0.93287	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.75477	-0.94;1.06;0.88	5.44	5.44	0.79542	.	0.056069	0.64402	D	0.000001	D	0.82513	0.5053	L	0.51422	1.61	0.58432	D	0.999994	D;D	0.76494	0.998;0.999	D;D	0.80764	0.989;0.994	T	0.80832	-0.1206	10	0.39692	T	0.17	.	16.5657	0.84588	0.0:0.0:1.0:0.0	.	178;239	E9PEA7;Q99469	.;STAC_HUMAN	K	239;178;171;167	ENSP00000273183:E239K;ENSP00000393713:E178K;ENSP00000398403:E167K	ENSP00000273183:E239K	E	+	1	0	STAC	36509674	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.111000	0.71541	2.723000	0.93209	0.655000	0.94253	GAA	STAC	-	NULL	ENSG00000144681		0.488	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	74	0.00	0	G	NM_003149		36534670	36534670	+1	no_errors	ENST00000273183	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	A
STARD9	57519	genome.wustl.edu	37	15	42980217	42980217	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:42980217C>G	ENST00000290607.7	+	23	6498	c.6441C>G	c.(6439-6441)atC>atG	p.I2147M		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2147					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TCCAGAAAATCACCCCAAACC	0.517																																						dbGAP											0													63.0	64.0	64.0					15																	42980217		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.6441C>G	15.37:g.42980217C>G	ENSP00000290607:p.Ile2147Met		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I2147M	ENST00000290607.7	37	c.6441	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321891	0.41096	.	.	ENSG00000159433	ENST00000290607	T	0.70869	-0.52	5.01	0.65	0.17812	.	.	.	.	.	T	0.58206	0.2106	L	0.38175	1.15	0.09310	N	1	.	.	.	.	.	.	T	0.54437	-0.8294	7	0.87932	D	0	.	1.2942	0.02066	0.1734:0.4491:0.1688:0.2087	.	.	.	.	M	2147	ENSP00000290607:I2147M	ENSP00000290607:I2147M	I	+	3	3	STARD9	40767509	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.215000	0.09279	-0.125000	0.11703	0.561000	0.74099	ATC	STARD9	-	NULL	ENSG00000159433		0.517	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	24	0.00	0	C			42980217	42980217	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.000	G
STAT1	6772	genome.wustl.edu	37	2	191850372	191850372	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:191850372C>G	ENST00000361099.3	-	15	1623	c.1236G>C	c.(1234-1236)caG>caC	p.Q412H	STAT1_ENST00000392323.2_Missense_Mutation_p.Q414H|STAT1_ENST00000392322.3_Missense_Mutation_p.Q412H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.Q412H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	412					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CAGCATTTTTCTGTTCTTTCA	0.403																																						dbGAP											0													158.0	144.0	149.0					2																	191850372		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1236G>C	2.37:g.191850372C>G	ENSP00000354394:p.Gln412His		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.Q412H	ENST00000361099.3	37	c.1236	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975311	0.53720	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.11	2.35	0.29111	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.057898	0.64402	D	0.000001	D	0.92482	0.7613	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.61874	0.887;0.895	D	0.90449	0.4437	10	0.45353	T	0.12	-25.4316	10.2884	0.43581	0.0:0.7821:0.0:0.2179	.	412;412	P42224-2;P42224	.;STAT1_HUMAN	H	412;412;412;414	ENSP00000354394:Q412H;ENSP00000386244:Q412H;ENSP00000376136:Q412H;ENSP00000376137:Q414H	ENSP00000354394:Q412H	Q	-	3	2	STAT1	191558617	1.000000	0.71417	0.996000	0.52242	0.711000	0.40976	2.914000	0.48797	0.277000	0.22141	-0.137000	0.14449	CAG	STAT1	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000115415		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	130	0.00	0	C	NM_007315		191850372	191850372	-1	no_errors	ENST00000361099	ensembl	human	known	69_37n	missense	89	29.92	38	SNP	1.000	G
STX1A	6804	genome.wustl.edu	37	7	73117062	73117062	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:73117062G>A	ENST00000222812.3	-	8	705				STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395155.3_Intron|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_Missense_Mutation_p.S264L|STX1A_ENST00000395156.3_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)						calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTGGTTACCTGAGAACTTGGT	0.657																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.678+112C>T	7.37:g.73117062G>A			O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,pfscan_T_SNARE_dom	p.S264L	ENST00000222812.3	37	c.791	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830007	0.32329	.	.	ENSG00000106089	ENST00000395154	T	0.45668	0.89	5.23	5.23	0.72850	.	.	.	.	.	T	0.57242	0.2040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58036	-0.7707	6	0.59425	D	0.04	.	14.1752	0.65537	0.0:0.0:1.0:0.0	.	.	.	.	L	264	ENSP00000378583:S264L	ENSP00000378583:S264L	S	-	2	0	STX1A	72754998	0.997000	0.39634	0.976000	0.42696	0.240000	0.25518	2.910000	0.48766	2.724000	0.93272	0.561000	0.74099	TCA	STX1A	-	NULL	ENSG00000106089		0.657	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1	11	0.00	0	G	NM_004603		73117062	73117062	-1	no_errors	ENST00000395154	ensembl	human	putative	69_37n	missense	9	35.71	5	SNP	0.991	A
SVOP	55530	genome.wustl.edu	37	12	109316518	109316518	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:109316518C>T	ENST00000299134.5	-	10	907	c.908G>A	c.(907-909)tGa>tAa	p.*303*		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						CCTCCTCACTCAGGTACTCGC	0.547																																						dbGAP											0													93.0	93.0	93.0					12																	109316518		2045	4189	6234	-	-	-	SO:0001819	synonymous_variant	0			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.908G>A	12.37:g.109316518C>T			Q9NPW5	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.*303	ENST00000299134.5	37	c.908		12																																																																																			SVOP	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000166111		0.547	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	SVOP	HGNC	protein_coding	OTTHUMT00000403982.1	108	0.00	0	C	NM_018711		109316518	109316518	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000299134	ensembl	human	known	69_37n	silent	57	28.05	23	SNP	0.998	T
SVOP	55530	genome.wustl.edu	37	12	109366203	109366203	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:109366203G>C	ENST00000299134.5	-	3	234	c.235C>G	c.(235-237)Cag>Gag	p.Q79E		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GTACTGGTCTGAGATATTTCC	0.493																																						dbGAP											0													208.0	182.0	190.0					12																	109366203		692	1591	2283	-	-	-	SO:0001583	missense	0			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.235C>G	12.37:g.109366203G>C	ENSP00000299134:p.Gln79Glu		Q9NPW5	Nonsense_Mutation	SNP	NULL	p.S17*	ENST00000299134.5	37	c.50		12	.	.	.	.	.	.	.	.	.	.	-	37	6.256988	0.97417	.	.	ENSG00000166111	ENST00000299134;ENST00000546618	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	T	0.73513	0.3596	.	.	.	.	.	.	.	.	.	.	.	.	T	0.73538	-0.3951	3	.	.	.	.	17.3801	0.87402	0.0:0.0:1.0:0.0	.	.	.	.	E	79;46	.	.	Q	-	1	0	SVOP	.	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.653000	0.91088	2.460000	0.83146	0.555000	0.69702	CAG	SVOP	-	NULL	ENSG00000166111		0.493	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	SVOP	HGNC	protein_coding	OTTHUMT00000403982.1	97	0.00	0	G	NM_018711		109366203	109366203	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550436	ensembl	human	known	69_37n	nonsense	62	22.22	18	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152782834	152782834	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:152782834C>G	ENST00000367255.5	-	21	2893	c.2292G>C	c.(2290-2292)aaG>aaC	p.K764N	SYNE1_ENST00000413186.2_Missense_Mutation_p.K764N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K331N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K764N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K771N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K754N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K764N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K771N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K771N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	764					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGTAATTATCTTGTATTGGG	0.428										HNSCC(10;0.0054)																												dbGAP											0													168.0	149.0	156.0					6																	152782834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2292G>C	6.37:g.152782834C>G	ENSP00000356224:p.Lys764Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K764N	ENST00000367255.5	37	c.2292	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883285	0.33255	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;D;D;D;T	0.93366	-0.43;-0.41;-0.51;-0.43;0.11;-3.11;-3.19;-3.21;1.16	6.07	0.656	0.17844	.	0.000000	0.64402	D	0.000004	D	0.92770	0.7701	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999;0.999;0.999	D	0.89770	0.3953	10	0.32370	T	0.25	.	8.1597	0.31192	0.0:0.3253:0.0:0.6747	.	747;764;331;754;764;764;771	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	764;771;764;771;771;764;754;764;331	ENSP00000356224:K764N;ENSP00000396024:K771N;ENSP00000265368:K764N;ENSP00000390975:K771N;ENSP00000341887:K771N;ENSP00000356222:K764N;ENSP00000356217:K754N;ENSP00000414510:K764N;ENSP00000438508:K331N	ENSP00000265368:K764N	K	-	3	2	SYNE1	152824527	0.999000	0.42202	0.948000	0.38648	0.346000	0.29079	1.004000	0.29822	0.163000	0.19507	-0.142000	0.14014	AAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	87	0.00	0	C	NM_182961		152782834	152782834	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	56	32.14	27	SNP	0.587	G
SYNPO2	171024	genome.wustl.edu	37	4	119951999	119951999	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:119951999G>A	ENST00000429713.2	+	4	2251	c.2069G>A	c.(2068-2070)aGa>aAa	p.R690K	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.R690K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R690K	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	690						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAAAAGGAGAAGCACGACA	0.463																																						dbGAP											0													85.0	93.0	91.0					4																	119951999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2069G>A	4.37:g.119951999G>A	ENSP00000395143:p.Arg690Lys		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R690K	ENST00000429713.2	37	c.2069	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590230	0.86851	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.27720	1.65;1.7;1.68	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000003	T	0.57770	0.2076	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;0.998;0.997	D;D;D;D	0.83275	0.914;0.996;0.989;0.978	T	0.58674	-0.7595	9	.	.	.	-16.7184	18.6838	0.91557	0.0:0.0:1.0:0.0	.	690;690;690;690	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	K	690	ENSP00000306015:R690K;ENSP00000395143:R690K;ENSP00000390965:R690K	.	R	+	2	0	SYNPO2	120171447	1.000000	0.71417	0.983000	0.44433	0.918000	0.54935	4.737000	0.62066	2.413000	0.81919	0.655000	0.94253	AGA	SYNPO2	-	NULL	ENSG00000172403		0.463	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	59	0.00	0	G			119951999	119951999	+1	no_errors	ENST00000307142	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	1.000	A
SYNRG	11276	genome.wustl.edu	37	17	35902444	35902444	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:35902444G>A	ENST00000339208.6	-	15	2972	c.2832C>T	c.(2830-2832)ctC>ctT	p.L944L	SYNRG_ENST00000394378.2_Silent_p.L866L|SYNRG_ENST00000346661.4_Silent_p.L944L|SYNRG_ENST00000591288.1_Silent_p.L738L|SYNRG_ENST00000585472.1_Silent_p.L865L|SYNRG_ENST00000345615.4_Silent_p.L866L|SYNRG_ENST00000502449.2_Silent_p.L821L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	944					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTACTTTGGAGAGAGATGTCA	0.458																																						dbGAP											0													123.0	120.0	121.0					17																	35902444		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2832C>T	17.37:g.35902444G>A			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.L944	ENST00000339208.6	37	c.2832	CCDS11321.1	17																																																																																			SYNRG	-	NULL	ENSG00000006114		0.458	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	64	0.00	0	G	NM_007247		35902444	35902444	-1	no_errors	ENST00000339208	ensembl	human	known	69_37n	silent	46	36.99	27	SNP	0.673	A
SYT1	6857	genome.wustl.edu	37	12	79689854	79689854	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:79689854G>C	ENST00000261205.4	+	7	1137	c.480G>C	c.(478-480)ctG>ctC	p.L160L	SYT1_ENST00000457153.2_Silent_p.L157L|SYT1_ENST00000552744.1_Silent_p.L160L|SYT1_ENST00000393240.3_Silent_p.L160L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTCAGCTGCTGGTAGGGATCA	0.433																																						dbGAP											0													83.0	77.0	79.0					12																	79689854		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.480G>C	12.37:g.79689854G>C			Q6AI31	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting	p.W62S	ENST00000261205.4	37	c.185	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	G	7.749	0.702863	0.15172	.	.	ENSG00000067715	ENST00000549559	.	.	.	5.52	1.45	0.22620	.	.	.	.	.	T	0.54303	0.1850	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	7.0491	0.25063	0.0641:0.2336:0.5812:0.1211	.	.	.	.	S	62	.	.	W	+	2	0	SYT1	78213985	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	1.265000	0.33027	0.060000	0.16281	-0.172000	0.13284	TGG	SYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting	ENSG00000067715		0.433	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	61	0.00	0	G	NM_005639		79689854	79689854	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000549559	ensembl	human	novel	69_37n	missense	35	27.08	13	SNP	1.000	C
SYT14	255928	genome.wustl.edu	37	1	210187039	210187039	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:210187039C>T	ENST00000472886.1	+	3	137	c.123C>T	c.(121-123)ctC>ctT	p.L41L	SYT14_ENST00000367015.1_Silent_p.L3L|SYT14_ENST00000422431.1_Silent_p.L86L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Silent_p.L41L|SYT14_ENST00000537238.1_Silent_p.L3L|SYT14_ENST00000367019.1_Silent_p.L41L|SYT14_ENST00000534859.1_Silent_p.L41L			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	41					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGATGCTGCTCCTTTTTCTCT	0.348																																						dbGAP											0													158.0	167.0	164.0					1																	210187039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.123C>T	1.37:g.210187039C>T			B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L86	ENST00000472886.1	37	c.258	CCDS31014.1	1																																																																																			SYT14	-	NULL	ENSG00000143469		0.348	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	227	0.00	0	C	NM_153262		210187039	210187039	+1	no_errors	ENST00000422431	ensembl	human	known	69_37n	silent	257	17.10	53	SNP	1.000	T
SYTL2	54843	genome.wustl.edu	37	11	85436737	85436737	+	Intron	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:85436737C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.G255R|SYTL2_ENST00000359152.5_Missense_Mutation_p.G779R|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.G255R	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGTGAAGTTCCAGTTGCTTCC	0.438																																						dbGAP											0													128.0	133.0	131.0					11																	85436737		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2201G>A	11.37:g.85436737C>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G779R	ENST00000528231.1	37	c.2335	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416475	0.25552	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.25912	1.77;1.79;1.79	6.17	4.29	0.51040	.	0.462648	0.18543	N	0.138143	T	0.16557	0.0398	N	0.19112	0.55	0.09310	N	1	B;B;B	0.27140	0.169;0.169;0.169	B;B;B	0.28553	0.091;0.091;0.091	T	0.21552	-1.0242	9	.	.	.	-5.5789	10.7838	0.46393	0.0:0.8508:0.0:0.1492	.	255;255;255	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	R	779;255;255	ENSP00000352065:G779R;ENSP00000346576:G255R;ENSP00000432694:G255R	.	G	-	1	0	SYTL2	85114385	0.000000	0.05858	0.005000	0.12908	0.939000	0.58152	-0.305000	0.08188	0.912000	0.36772	0.655000	0.94253	GGA	SYTL2	-	NULL	ENSG00000137501		0.438	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	64	0.00	0	C	NM_206927		85436737	85436737	-1	no_errors	ENST00000359152	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	0.011	T
TACR3	6870	genome.wustl.edu	37	4	104579457	104579457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:104579457G>A	ENST00000304883.2	-	2	792	c.652C>T	c.(652-654)Cag>Tag	p.Q218*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	218					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAAAGACACTGAGGGAAGGCA	0.423																																						dbGAP											0													144.0	134.0	138.0					4																	104579457		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.652C>T	4.37:g.104579457G>A	ENSP00000303325:p.Gln218*		Q0P510	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.Q218*	ENST00000304883.2	37	c.652	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.468891	0.98302	.	.	ENSG00000169836	ENST00000304883	.	.	.	5.94	5.94	0.96194	.	0.058454	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.4207	0.94720	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000303325:Q218X	Q	-	1	0	TACR3	104798906	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.514000	0.67043	2.834000	0.97654	0.586000	0.80456	CAG	TACR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NK1_rcpt	ENSG00000169836		0.423	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	82	0.00	0	G	NM_001059		104579457	104579457	-1	no_errors	ENST00000304883	ensembl	human	known	69_37n	nonsense	52	18.75	12	SNP	1.000	A
TAF1A	9015	genome.wustl.edu	37	1	222750952	222750952	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:222750952G>A	ENST00000352967.4	-	5	627	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.H147Y|TAF1A_ENST00000350027.4_Missense_Mutation_p.H147Y|TAF1A_ENST00000391882.1_Missense_Mutation_p.H33Y|TAF1A_ENST00000366890.1_Missense_Mutation_p.H33Y	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	147					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 from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		AGCATTCCATGATGCAGAAGG	0.378																																						dbGAP											0													121.0	118.0	119.0					1																	222750952		2203	4300	6503	-	-	-	SO:0001583	missense	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.439C>T	1.37:g.222750952G>A	ENSP00000327072:p.His147Tyr		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.H147Y	ENST00000352967.4	37	c.439	CCDS1531.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988942	0.35131	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	6.05	5.07	0.68467	.	0.222537	0.52532	D	0.000071	T	0.54431	0.1858	M	0.62723	1.935	0.34211	D	0.674252	D;B	0.65815	0.995;0.145	P;B	0.58266	0.836;0.048	T	0.66716	-0.5853	10	0.66056	D	0.02	-10.3208	11.131	0.48347	0.0:0.0:0.735:0.265	.	147;147	B4DS21;Q15573	.;TAF1A_HUMAN	Y	33;147;147;33;109;109;147	ENSP00000355856:H33Y;ENSP00000339976:H147Y;ENSP00000327072:H147Y;ENSP00000375754:H33Y;ENSP00000375755:H109Y;ENSP00000437725:H147Y	ENSP00000339976:H147Y	H	-	1	0	TAF1A	220817575	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.650000	0.37292	2.886000	0.99085	0.650000	0.86243	CAT	TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.378	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	87	0.00	0	G	NM_005681		222750952	222750952	-1	no_errors	ENST00000350027	ensembl	human	known	69_37n	missense	110	13.39	17	SNP	1.000	A
TAF4B	6875	genome.wustl.edu	37	18	23866325	23866325	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:23866325G>A	ENST00000269142.5	+	7	2450	c.1452G>A	c.(1450-1452)gtG>gtA	p.V484V	TAF4B_ENST00000400466.2_Silent_p.V484V|TAF4B_ENST00000578121.1_Silent_p.V484V	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	484					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TTCCATCTGTGAAACCTGTTG	0.478																																						dbGAP											0													89.0	83.0	85.0					18																	23866325		1878	4123	6001	-	-	-	SO:0001819	synonymous_variant	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1452G>A	18.37:g.23866325G>A			Q29YA4|Q29YA5	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.V484	ENST00000269142.5	37	c.1452	CCDS42421.1	18																																																																																			TAF4B	-	NULL	ENSG00000141384		0.478	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	47	0.00	0	G	NM_005640		23866325	23866325	+1	no_errors	ENST00000269142	ensembl	human	known	69_37n	silent	38	33.33	19	SNP	0.468	A
TAF4B	6875	genome.wustl.edu	37	18	23901147	23901147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:23901147C>T	ENST00000269142.5	+	11	3114	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	TAF4B_ENST00000578121.1_Nonsense_Mutation_p.R711*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	706					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TGCTCAGCATCGAATGACTAC	0.393																																						dbGAP											0													69.0	61.0	64.0					18																	23901147		1870	4109	5979	-	-	-	SO:0001587	stop_gained	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2116C>T	18.37:g.23901147C>T	ENSP00000269142:p.Arg706*		Q29YA4|Q29YA5	Nonsense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.R706*	ENST00000269142.5	37	c.2116	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	C	42	9.565505	0.99207	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	.	.	.	4.48	4.48	0.54585	.	0.137901	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9008	12.1676	0.54139	0.2744:0.7256:0.0:0.0	.	.	.	.	X	709;706	.	ENSP00000269142:R706X	R	+	1	2	TAF4B	22155145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.311000	0.33562	2.502000	0.84385	0.591000	0.81541	CGA	TAF4B	-	pfam_TAF4	ENSG00000141384		0.393	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	33	0.00	0	C	NM_005640		23901147	23901147	+1	no_errors	ENST00000269142	ensembl	human	known	69_37n	nonsense	31	25.58	11	SNP	0.997	T
TARBP1	6894	genome.wustl.edu	37	1	234528352	234528352	+	Intron	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:234528352G>C	ENST00000040877.1	-	29	4560				TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCCTGCTTGGAGTAAATTAG	0.299																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4561-54C>G	1.37:g.234528352G>C			Q9H581	RNA	SNP	-	NULL	ENST00000040877.1	37	NULL	CCDS1601.1	1																																																																																			TARBP1	-	-	ENSG00000059588		0.299	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	47	0.00	0	G	NM_005646		234528352	234528352	-1	no_errors	ENST00000471918	ensembl	human	known	69_37n	rna	65	15.58	12	SNP	0.000	C
MAP3K12	7786	genome.wustl.edu	37	12	53895905	53895905	+	5'Flank	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:53895905G>A	ENST00000267079.2	-	0	0				MAP3K12_ENST00000547488.1_5'Flank|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000456234.2_Missense_Mutation_p.E33K|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000266987.2_Missense_Mutation_p.E54K|TARBP2_ENST00000394357.2_Missense_Mutation_p.E33K|MAP3K12_ENST00000547151.1_5'Flank|TARBP2_ENST00000549028.1_3'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCTCAAAGCCGAGGGCCAAGC	0.607																																						dbGAP											0													92.0	78.0	83.0					12																	53895905		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895905G>A	Exception_encountered		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.E54K	ENST00000267079.2	37	c.160	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987143	0.93106	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	T;T;T	0.78364	-1.17;-1.17;-1.17	3.95	3.95	0.45737	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.114616	0.56097	D	0.000024	D	0.85017	0.5601	M	0.64404	1.975	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.982;0.993;0.989	D	0.83786	0.0228	10	0.32370	T	0.25	-24.7365	15.2673	0.73672	0.0:0.0:1.0:0.0	.	54;54;54	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	K	54;33;54;33	ENSP00000266987:E54K;ENSP00000416077:E33K;ENSP00000377885:E33K	ENSP00000266987:E54K	E	+	1	0	TARBP2	52182172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.187000	0.94912	2.197000	0.70478	0.467000	0.42956	GAG	TARBP2	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000139546		0.607	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TARBP2	HGNC	protein_coding	OTTHUMT00000406267.1	47	0.00	0	G	NM_006301		53895905	53895905	+1	no_errors	ENST00000266987	ensembl	human	known	69_37n	missense	30	32.61	15	SNP	1.000	A
TBC1D4	9882	genome.wustl.edu	37	13	75880569	75880569	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:75880569C>G	ENST00000377636.3	-	15	2978	c.2632G>C	c.(2632-2634)Gac>Cac	p.D878H	TBC1D4_ENST00000431480.2_Missense_Mutation_p.D870H|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D815H|TBC1D4_ENST00000425511.1_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	878					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTTCATAGTCTAATTTAACT	0.333																																						dbGAP											0													117.0	119.0	118.0					13																	75880569		1837	4084	5921	-	-	-	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2632G>C	13.37:g.75880569C>G	ENSP00000366863:p.Asp878His		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.D878H	ENST00000377636.3	37	c.2632	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346171	0.82022	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03745	3.82;3.87;3.89	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.70275	2.135	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.998	D;D;P	0.67725	0.916;0.953;0.871	T	0.00007	-1.2505	10	0.62326	D	0.03	-31.887	20.2963	0.98556	0.0:1.0:0.0:0.0	.	815;870;878	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	H	878;870;815	ENSP00000366863:D878H;ENSP00000395986:D870H;ENSP00000366852:D815H	ENSP00000366852:D815H	D	-	1	0	TBC1D4	74778570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.291000	0.59025	2.813000	0.96785	0.655000	0.94253	GAC	TBC1D4	-	NULL	ENSG00000136111		0.333	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	78	0.00	0	C	NM_014832		75880569	75880569	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	G
TBC1D8	11138	genome.wustl.edu	37	2	101670693	101670693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:101670693C>A	ENST00000376840.4	-	4	462	c.463G>T	c.(463-465)Gag>Tag	p.E155*	TBC1D8_ENST00000409318.1_Nonsense_Mutation_p.E170*			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	155	GRAM 1.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTCCGCCTCGGGGAAGTTG	0.612																																						dbGAP											0													34.0	39.0	38.0					2																	101670693		2070	4239	6309	-	-	-	SO:0001587	stop_gained	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.463G>T	2.37:g.101670693C>A	ENSP00000366036:p.Glu155*		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E170*	ENST00000376840.4	37	c.508	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.510293	0.96386	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-16.2642	20.0216	0.97506	0.0:1.0:0.0:0.0	.	.	.	.	X	155;170	.	ENSP00000366036:E155X	E	-	1	0	TBC1D8	101037125	0.995000	0.38212	0.984000	0.44739	0.983000	0.72400	2.917000	0.48821	2.735000	0.93741	0.650000	0.86243	GAG	TBC1D8	-	pfam_GRAM,smart_GRAM	ENSG00000204634		0.612	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	53	0.00	0	C	NM_007063		101670693	101670693	-1	no_errors	ENST00000409318	ensembl	human	known	69_37n	nonsense	19	34.48	10	SNP	0.968	A
TBCEL	219899	genome.wustl.edu	37	11	120916442	120916442	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:120916442G>C	ENST00000529397.1	+	2	143	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	TBCEL_ENST00000422003.2_Missense_Mutation_p.E15Q	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	15						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AGTATTATGTGAAAAATATAG	0.388																																						dbGAP											0													52.0	60.0	57.0					11																	120916442		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.43G>C	11.37:g.120916442G>C	ENSP00000437184:p.Glu15Gln		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.E15Q	ENST00000529397.1	37	c.43	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476499	0.84640	.	.	ENSG00000154114	ENST00000529397;ENST00000528512;ENST00000422003;ENST00000524726	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.68593	2.085	0.58432	D	0.999998	P	0.46142	0.873	B	0.44108	0.441	T	0.56780	-0.7922	10	0.46703	T	0.11	-7.5927	19.6408	0.95757	0.0:0.0:1.0:0.0	.	15	Q5QJ74	TBCEL_HUMAN	Q	15	ENSP00000437184:E15Q;ENSP00000431803:E15Q;ENSP00000403925:E15Q;ENSP00000432783:E15Q	ENSP00000284259:E15Q	E	+	1	0	TBCEL	120421652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.385000	0.97223	2.643000	0.89663	0.650000	0.86243	GAA	TBCEL	-	NULL	ENSG00000154114		0.388	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	56	0.00	0	G	NM_152715		120916442	120916442	+1	no_errors	ENST00000422003	ensembl	human	known	69_37n	missense	22	25.81	8	SNP	1.000	C
TBX19	9095	genome.wustl.edu	37	1	168267010	168267010	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:168267010G>A	ENST00000367821.3	+	4	703	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	218					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AGCCTTCTTGGATGCCAAGGA	0.328																																						dbGAP											0													90.0	85.0	87.0					1																	168267010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.652G>A	1.37:g.168267010G>A	ENSP00000356795:p.Asp218Asn		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.D218N	ENST00000367821.3	37	c.652	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.015419|5.015419	0.93404|0.93404	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969;ENST00000441464	D|.	0.90133|.	-2.62|.	4.74|4.74	4.74|4.74	0.60224|0.60224	p53-like transcription factor, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84750|0.84750	0.5541|0.5541	M|M	0.93507|0.93507	3.425|3.425	0.44316|.	D|.	0.997199|.	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.87578|.	0.998;0.916|.	D|D	0.89105|0.89105	0.3492|0.3492	9|4	0.72032|.	D|.	0.01|.	.|.	17.7066|17.7066	0.88310|0.88310	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	218;149|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	N|E	218;158|150;50	ENSP00000356795:D218N|.	ENSP00000356795:D218N|.	D|G	+|+	1|2	0|0	TBX19|TBX19	166533634|166533634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.160000|9.160000	0.94734|0.94734	2.343000|2.343000	0.79666|0.79666	0.443000|0.443000	0.29094|0.29094	GAT|GGA	TBX19	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	ENSG00000143178		0.328	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	94	0.00	0	G	NM_005149		168267010	168267010	+1	no_errors	ENST00000367821	ensembl	human	known	69_37n	missense	109	12.80	16	SNP	1.000	A
TBX3	6926	genome.wustl.edu	37	12	115120802	115120803	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:115120802_115120803insA	ENST00000257566.3	-	1	592_593	c.203_204insT	c.(202-204)ttgfs	p.L68fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.L68fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	68					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCGCCCCCACCAATTGATCCAT	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.204dupT	12.37:g.115120804_115120804dupA	ENSP00000257566:p.Leu68fs		Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L68fs	ENST00000257566.3	37	c.204_203	CCDS9176.1	12																																																																																			TBX3	-	NULL	ENSG00000135111		0.698	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	16	0.00	0	-	NM_016569, NM_005996		115120802	115120803	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	1.000:1.000	A
TBX5	6910	genome.wustl.edu	37	12	114793599	114793599	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:114793599G>A	ENST00000310346.4	-	9	1961	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TBX5_ENST00000349716.5_Missense_Mutation_p.S382L|TBX5_ENST00000405440.2_Missense_Mutation_p.S432L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	432				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGGGGCCCCGAGGTGAAGTG	0.647																																					NSCLC(152;1358 1980 4050 23898 40356)	dbGAP											0													25.0	26.0	26.0					12																	114793599		2203	4298	6501	-	-	-	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1295C>T	12.37:g.114793599G>A	ENSP00000309913:p.Ser432Leu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.S432L	ENST00000310346.4	37	c.1295	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888701	0.91814	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.60797	0.16;0.16;0.16	5.27	4.38	0.52667	.	0.230621	0.38436	N	0.001691	T	0.72669	0.3489	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71935	-0.4442	10	0.34782	T	0.22	.	13.5027	0.61467	0.0749:0.0:0.9251:0.0	.	432	Q99593	TBX5_HUMAN	L	382;432;329;432	ENSP00000337723:S382L;ENSP00000309913:S432L;ENSP00000384152:S432L	ENSP00000309913:S432L	S	-	2	0	TBX5	113277982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.223000	0.43536	0.655000	0.94253	TCG	TBX5	-	NULL	ENSG00000089225		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	20	0.00	0	G	NM_080717		114793599	114793599	-1	no_errors	ENST00000310346	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	A
TBX5	6910	genome.wustl.edu	37	12	114793746	114793746	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:114793746G>C	ENST00000310346.4	-	9	1814	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	TBX5_ENST00000349716.5_Missense_Mutation_p.S333C|TBX5_ENST00000405440.2_Missense_Mutation_p.S383C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	383					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGGGGCGCAGAGCTGGCATA	0.617																																					NSCLC(152;1358 1980 4050 23898 40356)	dbGAP											0													76.0	67.0	70.0					12																	114793746		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1148C>G	12.37:g.114793746G>C	ENSP00000309913:p.Ser383Cys		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.S383C	ENST00000310346.4	37	c.1148	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613940	0.87359	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.49139	0.79;0.79;0.79	5.27	5.27	0.74061	.	0.112087	0.64402	D	0.000008	T	0.58963	0.2159	M	0.68952	2.095	0.80722	D	1	D	0.57571	0.98	P	0.50231	0.635	T	0.62996	-0.6735	10	0.54805	T	0.06	.	18.8889	0.92391	0.0:0.0:1.0:0.0	.	383	Q99593	TBX5_HUMAN	C	333;383;280;383	ENSP00000337723:S333C;ENSP00000309913:S383C;ENSP00000384152:S383C	ENSP00000309913:S383C	S	-	2	0	TBX5	113278129	1.000000	0.71417	0.930000	0.37139	0.883000	0.51084	9.476000	0.97823	2.463000	0.83235	0.655000	0.94253	TCT	TBX5	-	NULL	ENSG00000089225		0.617	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	48	0.00	0	G	NM_080717		114793746	114793746	-1	no_errors	ENST00000310346	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	1.000	C
TCF4	6925	genome.wustl.edu	37	18	53252513	53252513	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:53252513G>A	ENST00000356073.4	-	3	754	c.143C>T	c.(142-144)tCa>tTa	p.S48L	TCF4_ENST00000568673.1_Missense_Mutation_p.S24L|TCF4_ENST00000566286.1_Missense_Mutation_p.S46L|TCF4_ENST00000568740.1_Missense_Mutation_p.S24L|TCF4_ENST00000565018.2_Missense_Mutation_p.S48L|TCF4_ENST00000567880.1_Missense_Mutation_p.S48L|TCF4_ENST00000540999.1_Missense_Mutation_p.S24L|TCF4_ENST00000566279.1_Missense_Mutation_p.S48L|TCF4_ENST00000354452.3_Missense_Mutation_p.S48L|TCF4_ENST00000398339.1_Missense_Mutation_p.S150L|TCF4_ENST00000564403.2_Missense_Mutation_p.S48L|TCF4_ENST00000537578.1_Missense_Mutation_p.S24L|TCF4_ENST00000564999.1_Missense_Mutation_p.S48L	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	48	Essential for MYOD1 inhibition. {ECO:0000250}.			TGSN -> EFGG (in Ref. 9; CAA36298). {ECO:0000305}.	DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTACATACTTGAGCCAGTAAA	0.343																																						dbGAP											0													93.0	98.0	96.0					18																	53252513		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.143C>T	18.37:g.53252513G>A	ENSP00000348374:p.Ser48Leu		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S150L	ENST00000356073.4	37	c.449	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856390	0.71834	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000540999;ENST00000537578;ENST00000398339	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.14	5.14	0.70334	.	0.258643	0.26871	N	0.022071	T	0.40372	0.1114	L	0.57536	1.79	0.52501	D	0.999957	B;B;B;B	0.33940	0.151;0.433;0.113;0.376	B;B;B;B	0.40066	0.185;0.318;0.036;0.073	T	0.39231	-0.9624	10	0.87932	D	0	-6.7523	18.5515	0.91066	0.0:0.0:1.0:0.0	.	24;48;150;48	B7Z5M6;G0LNT9;E9PH57;P15884	.;.;.;ITF2_HUMAN	L	48;48;24;24;150	ENSP00000346440:S48L;ENSP00000348374:S48L;ENSP00000445202:S24L;ENSP00000440731:S24L;ENSP00000381382:S150L	ENSP00000346440:S48L	S	-	2	0	TCF4	51403511	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.336000	0.96533	2.532000	0.85374	0.563000	0.77884	TCA	TCF4	-	NULL	ENSG00000196628		0.343	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	65	0.00	0	G	NM_003199		53252513	53252513	-1	no_errors	ENST00000398339	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	A
TCHH	7062	genome.wustl.edu	37	1	152084986	152084986	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:152084986C>T	ENST00000368804.1	-	2	706	c.707G>A	c.(706-708)aGa>aAa	p.R236K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	236					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAACACTCTGTCTTGCCG	0.582																																						dbGAP											0													104.0	117.0	113.0					1																	152084986		2068	4194	6262	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.707G>A	1.37:g.152084986C>T	ENSP00000357794:p.Arg236Lys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R236K	ENST00000368804.1	37	c.707	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	8.822	0.937857	0.18206	.	.	ENSG00000159450	ENST00000368804	T	0.04917	3.53	1.94	1.94	0.25998	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	P	0.53988	0.739	T	0.24154	-1.0168	9	0.05959	T	0.93	.	9.4664	0.38816	0.0:1.0:0.0:0.0	.	236	Q07283	TRHY_HUMAN	K	236	ENSP00000357794:R236K	ENSP00000357794:R236K	R	-	2	0	TCHH	150351610	.	.	0.003000	0.11579	0.042000	0.13812	.	.	1.062000	0.40625	0.298000	0.19748	AGA	TCHH	-	NULL	ENSG00000159450		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	37	0.00	0	C	NM_007113		152084986	152084986	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.011	T
TCTN2	79867	genome.wustl.edu	37	12	124171390	124171390	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:124171390C>T	ENST00000303372.5	+	6	700	c.572C>T	c.(571-573)tCa>tTa	p.S191L	TCTN2_ENST00000426174.2_Missense_Mutation_p.S190L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	191					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAGGAATGCTCATCAAATTTA	0.512																																						dbGAP											0													148.0	114.0	126.0					12																	124171390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.572C>T	12.37:g.124171390C>T	ENSP00000304941:p.Ser191Leu		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.S191L	ENST00000303372.5	37	c.572	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546239	0.65198	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.84298	-1.83;-1.83	5.45	3.49	0.39957	Domain of unknown function DUF1619 (1);	0.343436	0.24251	N	0.040176	D	0.84524	0.5491	M	0.69823	2.125	0.19775	N	0.99995	P;P	0.43231	0.801;0.801	B;B	0.43889	0.435;0.435	T	0.78204	-0.2295	10	0.72032	D	0.01	-9.1157	9.9785	0.41800	0.2871:0.582:0.1309:0.0	.	190;191	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	190;191	ENSP00000395171:S190L;ENSP00000304941:S191L	ENSP00000304941:S191L	S	+	2	0	TCTN2	122737343	0.868000	0.29978	0.373000	0.26003	0.120000	0.20174	1.745000	0.38278	1.229000	0.43630	0.644000	0.83932	TCA	TCTN2	-	pfam_DUF1619	ENSG00000168778		0.512	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	36	0.00	0	C	NM_024809		124171390	124171390	+1	no_errors	ENST00000303372	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.575	T
TET2	54790	genome.wustl.edu	37	4	106156375	106156375	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:106156375C>G	ENST00000540549.1	+	3	2136	c.1276C>G	c.(1276-1278)Ctg>Gtg	p.L426V	TET2_ENST00000380013.4_Missense_Mutation_p.L426V|TET2_ENST00000413648.2_Missense_Mutation_p.L426V|TET2_ENST00000545826.1_Missense_Mutation_p.L426V|TET2_ENST00000513237.1_Missense_Mutation_p.L447V|TET2_ENST00000305737.2_Missense_Mutation_p.L426V|TET2_ENST00000394764.1_Missense_Mutation_p.L426V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	426					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAAAGCACTCTGAATGGTGG	0.478			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													88.0	87.0	88.0					4																	106156375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1276C>G	4.37:g.106156375C>G	ENSP00000442788:p.Leu426Val		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.L426V	ENST00000540549.1	37	c.1276	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044354	0.55110	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.11277	2.79;3.77;2.79;3.76;3.77;2.79;2.83	5.0	4.15	0.48705	.	8.316520	0.00166	N	0.000007	T	0.25791	0.0628	L	0.34521	1.04	0.23769	N	0.996891	D;D;D	0.76494	0.978;0.978;0.999	P;P;D	0.69307	0.647;0.647;0.963	T	0.33111	-0.9881	10	0.72032	D	0.01	.	10.1845	0.42988	0.0:0.9083:0.0:0.0917	.	447;426;426	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	V	426;426;426;447;426;426;426;426	ENSP00000306705:L426V;ENSP00000442788:L426V;ENSP00000442867:L426V;ENSP00000425443:L447V;ENSP00000369351:L426V;ENSP00000378245:L426V;ENSP00000391448:L426V	ENSP00000265149:L426V	L	+	1	2	TET2	106375824	0.962000	0.33011	0.994000	0.49952	0.995000	0.86356	1.539000	0.36104	2.314000	0.78098	0.650000	0.86243	CTG	TET2	-	NULL	ENSG00000168769		0.478	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	99	0.00	0	C	NM_017628		106156375	106156375	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.990	G
TET2	54790	genome.wustl.edu	37	4	106190766	106190766	+	Splice_Site	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:106190766G>C	ENST00000540549.1	+	9	4904		c.e9-1		TET2_ENST00000380013.4_Splice_Site|TET2_ENST00000545826.1_Splice_Site|TET2_ENST00000513237.1_Splice_Site			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTATTTTTCAGATTGAATATG	0.408			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													88.0	74.0	78.0					4																	106190766		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4045-1G>C	4.37:g.106190766G>C			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Splice_Site	SNP	-	e7-1	ENST00000540549.1	37	c.4045-1	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	30	5.057050	0.93846	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2087	0.98285	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TET2	106410215	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.681000	0.98653	2.791000	0.96007	0.655000	0.94253	.	TET2	-	-	ENSG00000168769		0.408	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	48	0.00	0	G	NM_017628	Intron	106190766	106190766	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	splice_site	23	34.29	12	SNP	1.000	C
TFAP2A	7020	genome.wustl.edu	37	6	10398657	10398657	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:10398657C>T	ENST00000482890.1	-	8	1659	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	TFAP2A_ENST00000379608.3_Missense_Mutation_p.R430K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R436K|TFAP2A_ENST00000379613.3_Missense_Mutation_p.R438K|TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R432K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	436					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCTCACTTTCTGTGCTTCTC	0.637																																						dbGAP											0													215.0	222.0	220.0					6																	10398657		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1307G>A	6.37:g.10398657C>T	ENSP00000418541:p.Arg436Lys		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.R436K	ENST00000482890.1	37	c.1307	CCDS4510.1	6	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262404	0.59431	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97888	-4.57;-4.56;-4.59;-4.59;-4.56	5.23	5.23	0.72850	.	0.045393	0.85682	D	0.000000	D	0.96411	0.8829	M	0.79475	2.455	0.58432	D	0.999999	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.17979	0.001;0.001;0.02	D	0.94396	0.7618	10	0.87932	D	0	-6.7242	18.8138	0.92070	0.0:1.0:0.0:0.0	.	432;436;430	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	K	438;436;432;430;436	ENSP00000368933:R438K;ENSP00000368924:R436K;ENSP00000316516:R432K;ENSP00000368928:R430K;ENSP00000418541:R436K	ENSP00000316516:R432K	R	-	2	0	TFAP2A	10506643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	2.450000	0.82876	0.655000	0.94253	AGA	TFAP2A	-	NULL	ENSG00000137203		0.637	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	54	0.00	0	C	NM_003220		10398657	10398657	-1	no_errors	ENST00000379604	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	T
TFDP3	51270	genome.wustl.edu	37	X	132351621	132351621	+	Missense_Mutation	SNP	G	G	C	rs368393446		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:132351621G>C	ENST00000310125.4	-	1	755	c.667C>G	c.(667-669)Cta>Gta	p.L223V		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	223	DCB1. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ATTTGCTGTAGAATAAGTTGT	0.488																																						dbGAP											0													135.0	132.0	133.0					X																	132351621		2195	4297	6492	-	-	-	SO:0001583	missense	0			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.667C>G	X.37:g.132351621G>C	ENSP00000385461:p.Leu223Val		Q6DK49|Q9NZ54	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.L223V	ENST00000310125.4	37	c.667	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	g	6.599	0.478914	0.12581	.	.	ENSG00000183434	ENST00000310125	T	0.25579	1.79	0.208	-0.415	0.12355	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.25306	0.0615	L	0.47016	1.485	0.58432	D	0.999991	P	0.38788	0.647	P	0.44623	0.455	T	0.08186	-1.0734	9	0.52906	T	0.07	.	7.0542	0.25089	0.2509:0.0:0.7491:0.0	.	223	Q5H9I0	TFDP3_HUMAN	V	223	ENSP00000385461:L223V	ENSP00000385461:L223V	L	-	1	2	TFDP3	132179287	0.864000	0.29904	0.069000	0.20011	0.068000	0.16541	-0.323000	0.07997	-2.075000	0.00876	-2.053000	0.00404	CTA	TFDP3	-	pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr	ENSG00000183434		0.488	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	HGNC	protein_coding	OTTHUMT00000058337.1	133	0.00	0	G	NM_016521		132351621	132351621	-1	no_errors	ENST00000310125	ensembl	human	known	69_37n	missense	63	30.43	28	SNP	0.991	C
TG	7038	genome.wustl.edu	37	8	133883642	133883642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:133883642C>A	ENST00000220616.4	+	4	364	c.324C>A	c.(322-324)taC>taA	p.Y108*	TG_ENST00000377869.1_Nonsense_Mutation_p.Y108*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	108	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGAGTGGCTACATTAACAGCA	0.507																																						dbGAP											0													189.0	163.0	172.0					8																	133883642		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.324C>A	8.37:g.133883642C>A	ENSP00000220616:p.Tyr108*		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Y108*	ENST00000220616.4	37	c.324	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941586	0.73557	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	.	.	.	5.58	1.77	0.24775	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8955	0.35460	0.0:0.7073:0.0:0.2927	.	.	.	.	X	108	.	ENSP00000220616:Y108X	Y	+	3	2	TG	133952824	0.506000	0.26139	0.100000	0.21137	0.812000	0.45895	0.938000	0.28965	0.323000	0.23307	0.460000	0.39030	TAC	TG	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.507	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	131	0.00	0	C	NM_003235		133883642	133883642	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	nonsense	75	13.64	12	SNP	0.395	A
THOC6	79228	genome.wustl.edu	37	16	3077655	3077655	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:3077655C>T	ENST00000326266.8	+	13	1319	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	THOC6_ENST00000575576.1_Silent_p.F317F|THOC6_ENST00000574549.1_Silent_p.F317F|THOC6_ENST00000253952.9_Silent_p.F296F	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	341					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCCTGTCCTTCTGATCTCTGA	0.468																																						dbGAP											0													77.0	75.0	76.0					16																	3077655		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.1023C>T	16.37:g.3077655C>T			B2RA85|Q8NBR1|Q9BTV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F341	ENST00000326266.8	37	c.1023	CCDS10491.1	16																																																																																			THOC6	-	NULL	ENSG00000131652		0.468	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC6	HGNC	protein_coding	OTTHUMT00000436981.1	51	0.00	0	C	NM_024339		3077655	3077655	+1	no_errors	ENST00000326266	ensembl	human	known	69_37n	silent	23	32.35	11	SNP	1.000	T
THSD7A	221981	genome.wustl.edu	37	7	11446994	11446994	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:11446994C>T	ENST00000423059.4	-	20	4106	c.3855G>A	c.(3853-3855)gtG>gtA	p.V1285V	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1285					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCTGACAGTTCACAGGGCATT	0.448										HNSCC(18;0.044)																												dbGAP											0													74.0	74.0	74.0					7																	11446994		1960	4157	6117	-	-	-	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3855G>A	7.37:g.11446994C>T				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.V1285	ENST00000423059.4	37	c.3855	CCDS47543.1	7																																																																																			THSD7A	-	superfamily_Thrombospondin_1_rpt	ENSG00000005108		0.448	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	66	0.00	0	C	XM_928187.2		11446994	11446994	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	silent	39	15.22	7	SNP	1.000	T
TIAM2	26230	genome.wustl.edu	37	6	155578203	155578203	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:155578203C>G	ENST00000461783.3	+	29	6327	c.5054C>G	c.(5053-5055)tCt>tGt	p.S1685C	TIAM2_ENST00000275246.7_Missense_Mutation_p.S610C|TIAM2_ENST00000456144.1_Missense_Mutation_p.S1714C|TIAM2_ENST00000367174.2_Missense_Mutation_p.S1061C|TIAM2_ENST00000528391.2_Missense_Mutation_p.S1029C|TIAM2_ENST00000456877.2_Missense_Mutation_p.S997C|TIAM2_ENST00000360366.4_Missense_Mutation_p.S1709C|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000529824.2_Missense_Mutation_p.S1714C|TIAM2_ENST00000318981.5_Missense_Mutation_p.S1685C			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1685					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTTTAACATCTGTTGTCAGT	0.408																																						dbGAP											0													74.0	73.0	73.0					6																	155578203		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.5054C>G	6.37:g.155578203C>G	ENSP00000437188:p.Ser1685Cys		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S1714C	ENST00000461783.3	37	c.5141	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957187	0.73902	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.16196	2.89;2.77;2.89;2.76;2.84;2.77;2.7;2.73;2.36	5.85	5.85	0.93711	.	0.056348	0.64402	D	0.000001	T	0.34164	0.0888	M	0.63843	1.955	0.46678	D	0.999159	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.96;0.999;0.999;0.998	T	0.02893	-1.1097	10	0.87932	D	0	.	18.3513	0.90339	0.0:1.0:0.0:0.0	.	1029;1714;1709;1685	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	C	1685;1931;1714;1685;1061;1709;1714;997;1029;610	ENSP00000437188:S1685C;ENSP00000407746:S1714C;ENSP00000327315:S1685C;ENSP00000356142:S1061C;ENSP00000353528:S1709C;ENSP00000433348:S1714C;ENSP00000407183:S997C;ENSP00000435335:S1029C;ENSP00000275246:S610C	ENSP00000275246:S610C	S	+	2	0	TIAM2	155619895	1.000000	0.71417	0.015000	0.15790	0.865000	0.49528	7.142000	0.77339	2.761000	0.94854	0.655000	0.94253	TCT	TIAM2	-	NULL	ENSG00000146426		0.408	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	67	0.00	0	C	NM_012454		155578203	155578203	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	0.935	G
TIMM44	10469	genome.wustl.edu	37	19	7993025	7993025	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:7993025G>A	ENST00000270538.3	-	11	1333	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	TIMM44_ENST00000598968.1_5'UTR|CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	355					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGCCTGCTGGATGGGGTGGG	0.642																																						dbGAP											0													114.0	81.0	92.0					19																	7993025		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1065C>T	19.37:g.7993025G>A			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.I355	ENST00000270538.3	37	c.1065	CCDS12192.1	19																																																																																			TIMM44	-	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	ENSG00000104980		0.642	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	75	0.00	0	G			7993025	7993025	-1	no_errors	ENST00000270538	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	1.000	A
TJP2	9414	genome.wustl.edu	37	9	71831312	71831312	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:71831312G>C	ENST00000377245.4	+	3	380	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q	TJP2_ENST00000348208.4_Missense_Mutation_p.E58Q|TJP2_ENST00000453658.2_Missense_Mutation_p.E35Q|TJP2_ENST00000539225.1_Missense_Mutation_p.E89Q|TJP2_ENST00000265384.7_Missense_Mutation_p.E58Q|TJP2_ENST00000377259.1_Missense_Mutation_p.E35Q|TJP2_ENST00000535702.1_Missense_Mutation_p.E62Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	58	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCCCCACTTTGAAAATGGAGA	0.498																																						dbGAP											0													100.0	90.0	93.0					9																	71831312		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.172G>C	9.37:g.71831312G>C	ENSP00000366453:p.Glu58Gln		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.E89Q	ENST00000377245.4	37	c.265	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354788	0.41700	.	.	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.63	4.73	0.59995	PDZ/DHR/GLGF (4);	0.046249	0.85682	D	0.000000	T	0.54775	0.1879	N	0.20483	0.58	0.54753	D	0.999983	B;D;B;D;B	0.71674	0.018;0.997;0.312;0.998;0.068	B;D;B;D;B	0.75484	0.09;0.977;0.143;0.986;0.097	T	0.48937	-0.8990	10	0.11485	T	0.65	.	15.0634	0.71973	0.0686:0.0:0.9314:0.0	.	89;62;58;58;58	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	Q	35;35;35;58;58;58;62;89	ENSP00000392178:E35Q;ENSP00000366469:E35Q;ENSP00000402941:E35Q;ENSP00000366453:E58Q;ENSP00000345893:E58Q;ENSP00000265384:E58Q;ENSP00000442090:E62Q;ENSP00000438262:E89Q	ENSP00000265384:E58Q	E	+	1	0	TJP2	71021132	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.728000	0.84847	1.510000	0.48803	0.655000	0.94253	GAA	TJP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000119139		0.498	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	69	0.00	0	G	NM_201629		71831312	71831312	+1	no_errors	ENST00000539225	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	1.000	C
TJP3	27134	genome.wustl.edu	37	19	3744005	3744005	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:3744005G>C	ENST00000541714.2	+	15	2374	c.1912G>C	c.(1912-1914)Gag>Cag	p.E638Q	TJP3_ENST00000589378.1_Missense_Mutation_p.E647Q|TJP3_ENST00000262968.9_Missense_Mutation_p.E671Q|TJP3_ENST00000587686.1_Missense_Mutation_p.E657Q|TJP3_ENST00000382008.3_Missense_Mutation_p.E652Q|TJP3_ENST00000539908.2_Missense_Mutation_p.E602Q	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	638	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGACTGCTGAGATGCCTGA	0.522																																						dbGAP											0													113.0	104.0	107.0					19																	3744005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1912G>C	19.37:g.3744005G>C	ENSP00000439278:p.Glu638Gln		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens	p.E671Q	ENST00000541714.2	37	c.2011	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640881	0.87859	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.12039	2.74;2.92;2.72;2.8	4.68	4.68	0.58851	Guanylate kinase/L-type calcium channel (1);	0.054710	0.64402	D	0.000001	T	0.40862	0.1134	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.77557	0.988;0.99;0.961;0.987	T	0.45264	-0.9273	10	0.87932	D	0	.	15.1061	0.72322	0.0:0.0:1.0:0.0	.	657;671;652;638	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	Q	638;602;652;671	ENSP00000439278:E638Q;ENSP00000439991:E602Q;ENSP00000371438:E652Q;ENSP00000262968:E671Q	ENSP00000262968:E671Q	E	+	1	0	TJP3	3695005	1.000000	0.71417	0.882000	0.34594	0.967000	0.64934	9.601000	0.98297	2.143000	0.66587	0.655000	0.94253	GAG	TJP3	-	smart_Guanylate_kin/L-typ_Ca_channel	ENSG00000105289		0.522	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1	78	0.00	0	G			3744005	3744005	+1	no_errors	ENST00000262968	ensembl	human	known	69_37n	missense	74	10.84	9	SNP	0.999	C
TLN1	7094	genome.wustl.edu	37	9	35704102	35704102	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:35704102C>T	ENST00000314888.9	-	46	6470	c.6117G>A	c.(6115-6117)ggG>ggA	p.G2039G	TLN1_ENST00000540444.1_Silent_p.G1933G|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2039					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCTGGCTCCCAGCTGCGT	0.642																																						dbGAP											0													54.0	52.0	52.0					9																	35704102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6117G>A	9.37:g.35704102C>T			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.G2039	ENST00000314888.9	37	c.6117	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.642	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	32	0.00	0	C	NM_006289		35704102	35704102	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	0.992	T
TLR4	7099	genome.wustl.edu	37	9	120476417	120476417	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:120476417G>A	ENST00000355622.6	+	3	2112	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	TLR4_ENST00000394487.4_Missense_Mutation_p.E631K|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	671					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGGTAGAGGTGAAAACATCTA	0.423																																						dbGAP											0													126.0	115.0	119.0					9																	120476417		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2011G>A	9.37:g.120476417G>A	ENSP00000363089:p.Glu671Lys		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E671K	ENST00000355622.6	37	c.2011	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547333	0.65311	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.02472	4.28;4.28	6.03	6.03	0.97812	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.201720	0.38005	N	0.001853	T	0.06188	0.0160	L	0.43923	1.385	0.43907	D	0.996543	P	0.43973	0.823	P	0.48089	0.566	T	0.18304	-1.0341	10	0.54805	T	0.06	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	671	O00206	TLR4_HUMAN	K	631;671	ENSP00000377997:E631K;ENSP00000363089:E671K	ENSP00000363089:E671K	E	+	1	0	TLR4	119516238	0.996000	0.38824	0.786000	0.31890	0.441000	0.31987	4.133000	0.57983	2.861000	0.98227	0.655000	0.94253	GAA	TLR4	-	pirsf_Toll-like_receptor,superfamily_TIR_dom	ENSG00000136869		0.423	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	76	0.00	0	G	NM_138554		120476417	120476417	+1	no_errors	ENST00000355622	ensembl	human	known	69_37n	missense	95	12.84	14	SNP	0.963	A
TM7SF3	51768	genome.wustl.edu	37	12	27126946	27126946	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:27126946G>A	ENST00000343028.4	-	12	1890	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	555						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCTTCTGGAAGAGCCCTTTAA	0.532																																						dbGAP											0													96.0	91.0	93.0					12																	27126946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1665C>T	12.37:g.27126946G>A			B3KMZ3|Q9NUS4	Silent	SNP	NULL	p.L555	ENST00000343028.4	37	c.1665	CCDS8710.1	12																																																																																			TM7SF3	-	NULL	ENSG00000064115		0.532	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	64	0.00	0	G	NM_016551		27126946	27126946	-1	no_errors	ENST00000343028	ensembl	human	known	69_37n	silent	54	16.67	11	SNP	0.999	A
TM9SF2	9375	genome.wustl.edu	37	13	100211679	100211679	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:100211679C>G	ENST00000376387.4	+	16	2005	c.1815C>G	c.(1813-1815)atC>atG	p.I605M		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	605					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					ATTTCTTAATCTATGCAGTAC	0.358																																						dbGAP											0													131.0	124.0	127.0					13																	100211679		2203	4300	6503	-	-	-	SO:0001583	missense	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1815C>G	13.37:g.100211679C>G	ENSP00000365567:p.Ile605Met		A8K399|Q2TAY5	Missense_Mutation	SNP	pfam_EMP70	p.I605M	ENST00000376387.4	37	c.1815	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123985	0.37533	.	.	ENSG00000125304	ENST00000376387	T	0.50813	0.73	5.93	-2.9	0.05648	.	0.206559	0.50627	D	0.000106	T	0.33673	0.0871	L	0.33245	0.995	0.53005	D	0.999964	B;B	0.23058	0.032;0.079	B;B	0.35899	0.068;0.213	T	0.03384	-1.1042	10	0.44086	T	0.13	-9.5428	6.1085	0.20087	0.4038:0.4341:0.0585:0.1037	.	571;605	E9PHW5;Q99805	.;TM9S2_HUMAN	M	605	ENSP00000365567:I605M	ENSP00000365567:I605M	I	+	3	3	TM9SF2	99009680	0.977000	0.34250	0.744000	0.31058	0.972000	0.66771	0.280000	0.18790	-0.726000	0.04895	-0.264000	0.10439	ATC	TM9SF2	-	pfam_EMP70	ENSG00000125304		0.358	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	123	0.00	0	C			100211679	100211679	+1	no_errors	ENST00000376387	ensembl	human	known	69_37n	missense	77	28.04	30	SNP	0.980	G
TMED9	54732	genome.wustl.edu	37	5	177022334	177022334	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:177022334C>T	ENST00000332598.6	+	5	682	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	209					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTCCATTCTGCAGACCCT	0.587																																						dbGAP											0													78.0	74.0	76.0					5																	177022334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.625C>T	5.37:g.177022334C>T			Q14437|Q8WZ61	Silent	SNP	pfam_GOLD,pfscan_GOLD	p.L209	ENST00000332598.6	37	c.625	CCDS4428.1	5																																																																																			TMED9	-	pfam_GOLD	ENSG00000184840		0.587	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED9	HGNC	protein_coding	OTTHUMT00000253433.1	32	0.00	0	C	NM_017510		177022334	177022334	+1	no_errors	ENST00000332598	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	1.000	T
TMEM180	79847	genome.wustl.edu	37	10	104231094	104231094	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:104231094C>T	ENST00000238936.4	+	6	1006	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	TMEM180_ENST00000369931.3_Missense_Mutation_p.L106F|TMEM180_ENST00000366277.2_5'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	257						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGCCGGTATCTCCGGCAGCT	0.637																																						dbGAP											0													85.0	74.0	77.0					10																	104231094		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.769C>T	10.37:g.104231094C>T	ENSP00000238936:p.Leu257Phe		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L257F	ENST00000238936.4	37	c.769	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122571	0.77436	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.87491	-2.26	5.52	4.61	0.57282	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	L	0.37897	1.145	0.80722	D	1	P;B;D	0.89917	0.649;0.302;1.0	B;B;D	0.91635	0.216;0.25;0.999	D	0.85606	0.1255	10	0.19147	T	0.46	.	13.1624	0.59552	0.0:0.9231:0.0:0.0769	.	106;257;106	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	F	106;257;106	ENSP00000238936:L257F	ENSP00000238936:L257F	L	+	1	0	TMEM180	104221084	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.354000	0.59417	1.323000	0.45263	0.561000	0.74099	CTC	TMEM180	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138111		0.637	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	57	0.00	0	C	NM_024789		104231094	104231094	+1	no_errors	ENST00000238936	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	T
TMEM214	54867	genome.wustl.edu	37	2	27260482	27260482	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:27260482G>C	ENST00000238788.9	+	9	1126	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	TMEM214_ENST00000404032.3_Missense_Mutation_p.G310A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	355					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGGCATTTGGAGCAAAGCCG	0.557																																						dbGAP											0													119.0	124.0	123.0					2																	27260482		1982	4163	6145	-	-	-	SO:0001583	missense	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1064G>C	2.37:g.27260482G>C	ENSP00000238788:p.Gly355Ala		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	pfam_DUF2359_TMEM214	p.G355A	ENST00000238788.9	37	c.1064	CCDS42664.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.40|12.40	1.926315|1.926315	0.34002|0.34002	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000425720|ENST00000238788;ENST00000404032;ENST00000537397	.|T;T	.|0.47869	.|0.83;0.83	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56717|0.56717	0.2004|0.2004	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52692	.|0.955;0.549	.|P;B	.|0.52109	.|0.69;0.271	T|T	0.48990|0.48990	-0.8985|-0.8985	5|10	.|0.18276	.|T	.|0.48	-8.6804|-8.6804	17.5913|17.5913	0.87997|0.87997	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|310;355	.|Q6NUQ4-2;Q6NUQ4	.|.;TM214_HUMAN	Q|A	114|355;310;95	.|ENSP00000238788:G355A;ENSP00000384417:G310A	.|ENSP00000238788:G355A	E|G	+|+	1|2	0|0	TMEM214|TMEM214	27113986|27113986	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.956000|0.956000	0.61745|0.61745	9.222000|9.222000	0.95196|0.95196	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	GAG|GGA	TMEM214	-	pfam_DUF2359_TMEM214	ENSG00000119777		0.557	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	106	0.00	0	G	NM_017727		27260482	27260482	+1	no_errors	ENST00000238788	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	1.000	C
TMEM219	124446	genome.wustl.edu	37	16	29982865	29982865	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:29982865G>A	ENST00000566848.1	+	4	1189	c.722G>A	c.(721-723)tGa>tAa	p.*241*	TAOK2_ENST00000308893.4_5'Flank|TAOK2_ENST00000543033.1_5'Flank|TMEM219_ENST00000414689.2_Silent_p.*241*|TAOK2_ENST00000279394.3_5'Flank|TMEM219_ENST00000279396.6_Silent_p.*241*|TMEM219_ENST00000561899.2_Silent_p.*241*			Q86XT9	TM219_HUMAN	transmembrane protein 219	0					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(1)|prostate(2)	4						ACCCGGCTCTGAGGGCACTGG	0.612																																						dbGAP											0													106.0	104.0	105.0					16																	29982865		1931	4132	6063	-	-	-	SO:0001819	synonymous_variant	0				CCDS42145.1	16p11.2	2008-08-08			ENSG00000149932	ENSG00000149932			25201	protein-coding gene	gene with protein product							Standard	NM_194280		Approved		uc010bzk.1	Q86XT9		ENST00000566848.1:c.722G>A	16.37:g.29982865G>A			D5FK14|Q8WVV8	Silent	SNP	NULL	p.*241	ENST00000566848.1	37	c.722	CCDS42145.1	16																																																																																			TMEM219	-	NULL	ENSG00000149932		0.612	TMEM219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM219	HGNC	protein_coding	OTTHUMT00000435307.1	62	0.00	0	G	NM_001083613		29982865	29982865	+1	no_errors	ENST00000279396	ensembl	human	known	69_37n	silent	67	24.72	22	SNP	0.997	A
TMX1	81542	genome.wustl.edu	37	14	51721100	51721100	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:51721100G>A	ENST00000457354.2	+	8	831	c.706G>A	c.(706-708)Gag>Aag	p.E236K	Y_RNA_ENST00000364950.1_RNA	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	236					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						GAAAAAAGTGGAGGAGGAACA	0.338																																						dbGAP											0													96.0	93.0	94.0					14																	51721100		1822	4084	5906	-	-	-	SO:0001583	missense	0			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.706G>A	14.37:g.51721100G>A	ENSP00000393316:p.Glu236Lys		B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E236K	ENST00000457354.2	37	c.706	CCDS41953.1	14	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378066	0.61735	.	.	ENSG00000139921	ENST00000457354	T	0.17370	2.28	4.94	4.94	0.65067	.	0.338511	0.30193	N	0.010186	T	0.22003	0.0530	L	0.59436	1.845	0.46678	D	0.999155	P;P	0.44627	0.839;0.629	B;B	0.42959	0.403;0.227	T	0.01266	-1.1401	10	0.51188	T	0.08	-5.7127	14.0036	0.64449	0.0:0.0:1.0:0.0	.	152;236	B4DZX7;Q9H3N1	.;TMX1_HUMAN	K	236	ENSP00000393316:E236K	ENSP00000393316:E236K	E	+	1	0	TMX1	50790850	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.800000	0.47900	2.464000	0.83262	0.563000	0.77884	GAG	TMX1	-	NULL	ENSG00000139921		0.338	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX1	HGNC	protein_coding	OTTHUMT00000411206.1	89	0.00	0	G	NM_030755		51721100	51721100	+1	no_errors	ENST00000457354	ensembl	human	known	69_37n	missense	55	27.63	21	SNP	1.000	A
TNIK	23043	genome.wustl.edu	37	3	170843929	170843929	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:170843929C>T	ENST00000436636.2	-	17	2129	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	TNIK_ENST00000369326.5_Silent_p.L566L|TNIK_ENST00000475336.1_Silent_p.L511L|TNIK_ENST00000284483.8_Silent_p.L595L|TNIK_ENST00000357327.5_Silent_p.L566L|TNIK_ENST00000488470.1_Silent_p.L540L|TNIK_ENST00000538048.1_Silent_p.L540L|TNIK_ENST00000460047.1_Silent_p.L540L|TNIK_ENST00000470834.1_Silent_p.L566L|TNIK_ENST00000341852.6_Silent_p.L511L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	595	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTACAGCTACCAGATGTGGGA	0.473																																						dbGAP											0													61.0	64.0	63.0					3																	170843929		1872	4118	5990	-	-	-	SO:0001819	synonymous_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1785G>A	3.37:g.170843929C>T			A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L595	ENST00000436636.2	37	c.1785	CCDS46956.1	3																																																																																			TNIK	-	NULL	ENSG00000154310		0.473	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	48	0.00	0	C	XM_039796		170843929	170843929	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	1.000	T
TOP1	7150	genome.wustl.edu	37	20	39744072	39744072	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:39744072G>C	ENST00000361337.2	+	16	1950	c.1700G>C	c.(1699-1701)aGa>aCa	p.R567T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	567					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CTTTTTGATAGACTCAATGTG	0.418			T	NUP98	AML*																																	dbGAP		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													86.0	77.0	80.0					20																	39744072		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1700G>C	20.37:g.39744072G>C	ENSP00000354522:p.Arg567Thr		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI	p.R567T	ENST00000361337.2	37	c.1700	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.274952	0.95459	.	.	ENSG00000198900	ENST00000361337	T	0.43294	0.95	6.17	6.17	0.99709	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	H	0.94658	3.565	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.81529	-0.0891	10	0.87932	D	0	-15.7213	20.8794	0.99867	0.0:0.0:1.0:0.0	.	567	P11387	TOP1_HUMAN	T	567	ENSP00000354522:R567T	ENSP00000354522:R567T	R	+	2	0	TOP1	39177486	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.016000	0.88706	2.941000	0.99782	0.655000	0.94253	AGA	TOP1	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000198900		0.418	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	63	0.00	0	G			39744072	39744072	+1	no_errors	ENST00000361337	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	1.000	C
TOP3A	7156	genome.wustl.edu	37	17	18181268	18181268	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:18181268C>G	ENST00000321105.5	-	18	2762	c.2548G>C	c.(2548-2550)Gac>Cac	p.D850H	TOP3A_ENST00000542570.1_Missense_Mutation_p.D755H|TOP3A_ENST00000540524.1_Missense_Mutation_p.D380H	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	850	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGGGCTGTCTGCCCACAGG	0.647																																						dbGAP											0													39.0	44.0	42.0					17																	18181268		2202	4300	6502	-	-	-	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2548G>C	17.37:g.18181268C>G	ENSP00000321636:p.Asp850His		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.D850H	ENST00000321105.5	37	c.2548	CCDS11194.1	17	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368140	0.24771	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.40476	1.03;1.03;1.03	5.55	4.58	0.56647	Zinc finger, GRF-type (1);	0.084250	0.85682	D	0.000000	T	0.70885	0.3275	M	0.92219	3.285	0.58432	D	0.999998	D;D	0.65815	0.995;0.995	D;D	0.69307	0.963;0.941	T	0.79210	-0.1897	10	0.72032	D	0.01	-25.5235	14.395	0.67005	0.0:0.9287:0.0:0.0713	.	755;850	B4DK80;Q13472	.;TOP3A_HUMAN	H	850;380;755	ENSP00000321636:D850H;ENSP00000446425:D380H;ENSP00000442336:D755H	ENSP00000321636:D850H	D	-	1	0	TOP3A	18121993	0.930000	0.31532	0.586000	0.28679	0.371000	0.29859	2.035000	0.41155	1.353000	0.45828	0.549000	0.68633	GAC	TOP3A	-	pfam_Znf_GRF	ENSG00000177302		0.647	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	21	0.00	0	C			18181268	18181268	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	1.000	G
TP53BP1	7158	genome.wustl.edu	37	15	43701291	43701292	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:43701291_43701292insA	ENST00000263801.3	-	26	5640_5641	c.5388_5389insT	c.(5386-5391)tgtaacfs	p.N1797fs	TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.N1752fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.N1802fs|TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.N1800fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1797	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TAAGCTGTGTTACACTGCAAGA	0.485								Other conserved DNA damage response genes																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5389dupT	15.37:g.43701292_43701292dupA	ENSP00000263801:p.Asn1797fs		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Ins	INS	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.N1801fs	ENST00000263801.3	37	c.5404_5403	CCDS10096.1	15																																																																																			TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000067369		0.485	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	36	0.00	0	-			43701291	43701292	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	frame_shift_ins	29	21.62	8	INS	1.000:1.000	A
TRAF5	7188	genome.wustl.edu	37	1	211526623	211526623	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:211526623C>T	ENST00000261464.5	+	2	96	c.42C>T	c.(40-42)ttC>ttT	p.F14F	TRAF5_ENST00000367004.3_Silent_p.F14F|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Silent_p.F14F|TRAF5_ENST00000336184.2_Silent_p.F14F	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	14					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CCTGTGGTTTCATCCGCCAGA	0.478											OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													132.0	132.0	132.0					1																	211526623		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.42C>T	1.37:g.211526623C>T		2198	B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.F14	ENST00000261464.5	37	c.42	CCDS1497.1	1																																																																																			TRAF5	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000082512		0.478	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	35	0.00	0	C	NM_004619		211526623	211526623	+1	no_errors	ENST00000261464	ensembl	human	known	69_37n	silent	45	13.46	7	SNP	0.320	T
TRDMT1	1787	genome.wustl.edu	37	10	17203488	17203488	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:17203488G>A	ENST00000377799.3	-	5	430	c.383C>T	c.(382-384)tCt>tTt	p.S128F	TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.S104F|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	128	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TTACCTTGTAGAAGATACTTC	0.244																																						dbGAP											0													23.0	24.0	24.0					10																	17203488		2127	4180	6307	-	-	-	SO:0001583	missense	0			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.383C>T	10.37:g.17203488G>A	ENSP00000367030:p.Ser128Phe		B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase	p.S128F	ENST00000377799.3	37	c.383	CCDS7114.1	10	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398244	0.62177	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000525762	D;D;D	0.84660	-1.88;-1.88;-1.88	5.89	5.89	0.94794	.	0.217483	0.47093	D	0.000251	T	0.81264	0.4786	L	0.38838	1.175	0.80722	D	1	B;B;P;B	0.36222	0.417;0.417;0.544;0.417	B;B;B;B	0.35240	0.148;0.198;0.163;0.198	T	0.81743	-0.0793	10	0.59425	D	0.04	-22.9214	18.4367	0.90649	0.0:0.0:1.0:0.0	.	57;128;104;128	B7Z1Y7;Q6ICS7;O14717-2;O14717	.;.;.;TRDMT_HUMAN	F	128;104;86	ENSP00000367030:S128F;ENSP00000409354:S104F;ENSP00000431476:S86F	ENSP00000367030:S128F	S	-	2	0	TRDMT1	17243494	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.051000	0.71072	2.797000	0.96272	0.563000	0.77884	TCT	TRDMT1	-	pfam_C5_MeTfrase,tigrfam_C5_MeTfrase	ENSG00000107614		0.244	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRDMT1	HGNC	protein_coding	OTTHUMT00000047024.3	77	0.00	0	G	NM_004412		17203488	17203488	-1	no_errors	ENST00000377799	ensembl	human	known	69_37n	missense	69	21.35	19	SNP	1.000	A
TRHR	7201	genome.wustl.edu	37	8	110100131	110100131	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:110100131C>T	ENST00000518632.1	+	2	741	c.390C>T	c.(388-390)ccC>ccT	p.P130P	TRHR_ENST00000311762.2_Silent_p.P130P			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	130					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTGTCACCCCATCAAAGCCC	0.418																																						dbGAP											0													132.0	112.0	119.0					8																	110100131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.390C>T	8.37:g.110100131C>T			Q2M339	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trelhrm_rcpt,prints_Thyrotropin_RHR,prints_7TM_GPCR_Rhodpsn	p.P130	ENST00000518632.1	37	c.390	CCDS6311.1	8																																																																																			TRHR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trelhrm_rcpt	ENSG00000174417		0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	TRHR	HGNC	protein_coding	OTTHUMT00000380892.1	80	0.00	0	C			110100131	110100131	+1	no_errors	ENST00000311762	ensembl	human	known	69_37n	silent	51	26.09	18	SNP	0.962	T
TRIM47	91107	genome.wustl.edu	37	17	73872388	73872388	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:73872388C>G	ENST00000254816.2	-	3	983	c.957G>C	c.(955-957)caG>caC	p.Q319H	TRIM47_ENST00000587339.1_Missense_Mutation_p.Q81H|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	319						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTGAGATTCTGGCGGGCTC	0.662																																						dbGAP											0													16.0	18.0	18.0					17																	73872388		2194	4272	6466	-	-	-	SO:0001583	missense	0			AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.957G>C	17.37:g.73872388C>G	ENSP00000254816:p.Gln319His		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q319H	ENST00000254816.2	37	c.957	CCDS32737.1	17	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034722	0.35893	.	.	ENSG00000132481	ENST00000254816	T	0.44083	0.93	4.62	1.21	0.21127	.	0.359208	0.24096	N	0.041600	T	0.21227	0.0511	N	0.08118	0	0.24444	N	0.99451	B	0.02656	0.0	B	0.04013	0.001	T	0.19353	-1.0308	10	0.40728	T	0.16	.	10.5767	0.45231	0.0:0.611:0.2675:0.1215	.	319	Q96LD4	TRI47_HUMAN	H	319	ENSP00000254816:Q319H	ENSP00000254816:Q319H	Q	-	3	2	TRIM47	71383983	0.949000	0.32298	1.000000	0.80357	0.911000	0.54048	0.162000	0.16501	0.528000	0.28580	-0.311000	0.09066	CAG	TRIM47	-	NULL	ENSG00000132481		0.662	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM47	HGNC	protein_coding	OTTHUMT00000448934.1	24	0.00	0	C			73872388	73872388	-1	no_errors	ENST00000254816	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	1.000	G
TRIM6	117854	genome.wustl.edu	37	11	5618077	5618077	+	Intron	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr11:5618077G>C	ENST00000278302.5	+	1	73				TRIM6-TRIM34_ENST00000354852.5_5'UTR|TRIM6_ENST00000506134.1_5'UTR|TRIM6_ENST00000380107.1_Intron|TRIM6_ENST00000445329.1_5'UTR|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000380097.3_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_5'UTR	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAGAGCTTTGACCACCTGAT	0.473																																						dbGAP											0													193.0	171.0	178.0					11																	5618077		2201	4297	6498	-	-	-	SO:0001627	intron_variant	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-68+666G>C	11.37:g.5618077G>C			A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	RNA	SNP	-	NULL	ENST00000278302.5	37	NULL	CCDS31390.1	11																																																																																			TRIM6	-	-	ENSG00000121236		0.473	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6	HGNC	protein_coding	OTTHUMT00000143376.2	116	0.00	0	G	NM_001003818		5618077	5618077	+1	no_errors	ENST00000511284	ensembl	human	known	69_37n	rna	107	12.30	15	SNP	0.000	C
TRIO	7204	genome.wustl.edu	37	5	14465790	14465790	+	Intron	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:14465790C>G	ENST00000344204.4	+	37	5787				TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGAAGCTGCTCTGTGTTGCTA	0.517																																						dbGAP											0													42.0	41.0	42.0					5																	14465790		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5763+41C>G	5.37:g.14465790C>G			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	RNA	SNP	-	NULL	ENST00000344204.4	37	NULL	CCDS3883.1	5																																																																																			TRIO	-	-	ENSG00000038382		0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	51	0.00	0	C	NM_007118		14465790	14465790	+1	no_errors	ENST00000515710	ensembl	human	known	69_37n	rna	44	13.73	7	SNP	0.000	G
TRIO	7204	genome.wustl.edu	37	5	14480117	14480117	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:14480117G>A	ENST00000344204.4	+	43	6357	c.6333G>A	c.(6331-6333)ctG>ctA	p.L2111L	TRIO_ENST00000537187.1_Silent_p.L2111L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2111	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCTGTTACTGAAGGTGAGGA	0.463																																						dbGAP											0													74.0	65.0	68.0					5																	14480117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6333G>A	5.37:g.14480117G>A			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L2111	ENST00000344204.4	37	c.6333	CCDS3883.1	5																																																																																			TRIO	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000038382		0.463	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	67	0.00	0	G	NM_007118		14480117	14480117	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	silent	48	25.00	16	SNP	1.000	A
TRMT1	55621	genome.wustl.edu	37	19	13216367	13216367	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:13216367C>T	ENST00000592062.1	-	16	2207	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	TRMT1_ENST00000437766.1_Missense_Mutation_p.R546Q|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000221504.8_Missense_Mutation_p.R517Q|TRMT1_ENST00000357720.4_Missense_Mutation_p.R546Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	546							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTTGAGTCCTCGCTGTCGGGA	0.687																																						dbGAP											0													61.0	70.0	67.0					19																	13216367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1637G>A	19.37:g.13216367C>T	ENSP00000466967:p.Arg546Gln		O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_tRNA_MeTrfase_TRM1	p.R546Q	ENST00000592062.1	37	c.1637	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872848	0.33069	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.08546	3.08;3.08;3.08	4.53	3.43	0.39272	.	0.169486	0.39475	N	0.001348	T	0.03263	0.0095	N	0.11106	0.095	0.38427	D	0.946334	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.41197	-0.9522	10	0.09843	T	0.71	-8.9454	4.2786	0.10822	0.2292:0.6499:0.0:0.1209	.	517;546	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	546;546;517	ENSP00000350352:R546Q;ENSP00000416149:R546Q;ENSP00000221504:R517Q	ENSP00000221504:R517Q	R	-	2	0	TRMT1	13077367	0.789000	0.28775	1.000000	0.80357	0.981000	0.71138	0.461000	0.21940	2.368000	0.80403	0.561000	0.74099	CGA	TRMT1	-	NULL	ENSG00000104907		0.687	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	43	0.00	0	C	NM_017722		13216367	13216367	-1	no_errors	ENST00000357720	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
TSHZ1	10194	genome.wustl.edu	37	18	72999858	72999858	+	Silent	SNP	G	G	A	rs74530794	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:72999858G>A	ENST00000580243.1	+	2	2844	c.2496G>A	c.(2494-2496)ctG>ctA	p.L832L	TSHZ1_ENST00000322038.5_Silent_p.L787L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	832					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATCACCTCTGCGGGAGAGCG	0.562																																						dbGAP											0													68.0	67.0	67.0					18																	72999858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2496G>A	18.37:g.72999858G>A			O60534|Q4LE29|Q53EU4	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.L832	ENST00000580243.1	37	c.2496		18																																																																																			TSHZ1	-	NULL	ENSG00000179981		0.562	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	29	0.00	0	G	NM_005786		72999858	72999858	+1	no_errors	ENST00000580243	ensembl	human	known	69_37n	silent	9	40.00	6	SNP	1.000	A
TSHZ3	57616	genome.wustl.edu	37	19	31768073	31768073	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:31768073C>T	ENST00000240587.4	-	2	2953	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	876					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGAGTGGCCCCGTCAATGTCA	0.572																																						dbGAP											0													67.0	62.0	64.0					19																	31768073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2626G>A	19.37:g.31768073C>T	ENSP00000240587:p.Gly876Arg		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G876R	ENST00000240587.4	37	c.2626	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711504	0.68730	.	.	ENSG00000121297	ENST00000240587	T	0.14640	2.49	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.02047	-1.1223	10	0.54805	T	0.06	-26.1099	18.4995	0.90876	0.0:1.0:0.0:0.0	.	876	Q63HK5	TSH3_HUMAN	R	876	ENSP00000240587:G876R	ENSP00000240587:G876R	G	-	1	0	TSHZ3	36459913	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.461000	0.80834	2.351000	0.79841	0.591000	0.81541	GGG	TSHZ3	-	NULL	ENSG00000121297		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	52	0.00	0	C	NM_020856		31768073	31768073	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	missense	25	39.02	16	SNP	1.000	T
TSSK1B	83942	genome.wustl.edu	37	5	112769588	112769588	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:112769588C>G	ENST00000390666.3	-	1	1140	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	317					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGCTGTGCCTCTCCCTCAGGC	0.607																																						dbGAP											0													43.0	47.0	46.0					5																	112769588		2046	4206	6252	-	-	-	SO:0001583	missense	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.949G>C	5.37:g.112769588C>G	ENSP00000375081:p.Glu317Gln		B2R8D9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E317Q	ENST00000390666.3	37	c.949	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567430	0.28003	.	.	ENSG00000212122	ENST00000390666	T	0.68479	-0.33	0.9	0.9	0.19278	.	0.889074	0.09086	U	0.850657	T	0.37758	0.1015	N	0.08118	0	0.09310	N	1	P	0.38335	0.627	B	0.32677	0.15	T	0.16571	-1.0398	10	0.21014	T	0.42	.	4.9573	0.14048	0.0:1.0:0.0:0.0	.	317	Q9BXA7	TSSK1_HUMAN	Q	317	ENSP00000375081:E317Q	ENSP00000375081:E317Q	E	-	1	0	TSSK1B	112797487	0.004000	0.15560	0.674000	0.29902	0.689000	0.40095	0.707000	0.25704	0.308000	0.22923	0.313000	0.20887	GAG	TSSK1B	-	NULL	ENSG00000212122		0.607	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	75	0.00	0	C	NM_032028		112769588	112769588	-1	no_errors	ENST00000390666	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	0.010	G
TTC24	164118	genome.wustl.edu	37	1	156555599	156555599	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:156555599C>T	ENST00000368237.3	+	8	1551	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	TTC24_ENST00000478081.1_3'UTR|AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Silent_p.L517L			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	517										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGACAGTCCTCGGCAAAGCCT	0.522																																						dbGAP											0													106.0	107.0	107.0					1																	156555599		2123	4237	6360	-	-	-	SO:0001819	synonymous_variant	0				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1551C>T	1.37:g.156555599C>T			Q5T3H7	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S290L	ENST00000368237.3	37	c.869	CCDS53379.1	1	.	.	.	.	.	.	.	.	.	.	C	1.218	-0.627638	0.03610	.	.	ENSG00000187862	ENST00000340086	.	.	.	2.84	-1.86	0.07760	.	.	.	.	.	T	0.08358	0.0208	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36480	-0.9746	4	.	.	.	.	4.0785	0.09916	0.0:0.1337:0.4258:0.4406	.	.	.	.	L	290	.	.	S	+	2	0	TTC24	154822223	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.224000	0.09164	-0.275000	0.09219	-0.672000	0.03802	TCG	TTC24	-	NULL	ENSG00000187862		0.522	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	66	0.00	0	C	XM_089384		156555599	156555599	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000340086	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.000	T
TTC37	9652	genome.wustl.edu	37	5	94803617	94803617	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:94803617A>G	ENST00000358746.2	-	42	4871	c.4573T>C	c.(4573-4575)Tac>Cac	p.Y1525H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1525						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTCAGTAGGTACCAACGTGCA	0.348																																						dbGAP											0													120.0	110.0	114.0					5																	94803617		2203	4300	6503	-	-	-	SO:0001583	missense	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.4573T>C	5.37:g.94803617A>G	ENSP00000351596:p.Tyr1525His		O15077|Q6PJI3	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y1525H	ENST00000358746.2	37	c.4573	CCDS4072.1	5	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482331	0.84747	.	.	ENSG00000198677	ENST00000358746	D	0.86164	-2.08	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	M	0.61703	1.905	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	D	0.93020	0.6439	10	0.87932	D	0	.	14.8578	0.70355	1.0:0.0:0.0:0.0	.	1525	Q6PGP7	TTC37_HUMAN	H	1525	ENSP00000351596:Y1525H	ENSP00000351596:Y1525H	Y	-	1	0	TTC37	94829373	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.468000	0.80943	2.000000	0.58554	0.459000	0.35465	TAC	TTC37	-	NULL	ENSG00000198677		0.348	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1	99	0.00	0	A	NM_014639		94803617	94803617	-1	no_errors	ENST00000358746	ensembl	human	known	69_37n	missense	69	12.66	10	SNP	1.000	G
TTLL6	284076	genome.wustl.edu	37	17	46863601	46863601	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:46863601C>G	ENST00000393382.3	-	12	1827	c.1686G>C	c.(1684-1686)gtG>gtC	p.V562V	TTLL6_ENST00000433608.2_Silent_p.V255V	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTCTTTCTCACTTGCTCGC	0.527																																						dbGAP											0													338.0	325.0	330.0					17																	46863601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1686G>C	17.37:g.46863601C>G				Silent	SNP	pfam_Tub_tyr_ligase	p.V562	ENST00000393382.3	37	c.1686	CCDS45724.1	17																																																																																			TTLL6	-	NULL	ENSG00000170703		0.527	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	246	0.00	0	C	NM_173623		46863601	46863601	-1	no_errors	ENST00000393382	ensembl	human	known	69_37n	silent	208	18.11	46	SNP	0.000	G
TTN	7273	genome.wustl.edu	37	2	179558664	179558664	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:179558664C>T	ENST00000591111.1	-	116	30771	c.30547G>A	c.(30547-30549)Gag>Aag	p.E10183K	TTN_ENST00000342992.6_Missense_Mutation_p.E9256K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E10500K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				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)			ACTGACACCTCCTCCTCTGTG	0.393																																						dbGAP											0													108.0	96.0	100.0					2																	179558664		1883	4124	6007	-	-	-	SO:0001583	missense	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.30547G>A	2.37:g.179558664C>T	ENSP00000465570:p.Glu10183Lys		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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like	p.E9256K	ENST00000591111.1	37	c.27766		2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460776	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.63913	-0.07	6.16	6.16	0.99307	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51975	0.1706	N	0.14661	0.345	0.80722	D	1	P;P	0.49559	0.455;0.925	B;B	0.44163	0.142;0.443	T	0.59225	-0.7494	9	0.87932	D	0	.	17.7766	0.88510	0.0:1.0:0.0:0.0	.	10183;10183	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	K	9256;378;10	ENSP00000343764:E9256K	ENSP00000343764:E9256K	E	-	1	0	TTN	179266909	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	4.419000	0.59835	2.937000	0.99478	0.650000	0.86243	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	127	0.00	0	C	NM_133378		179558664	179558664	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	86	26.50	31	SNP	0.987	T
TTN	7273	genome.wustl.edu	37	2	179612488	179612488	+	Intron	SNP	T	T	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:179612488T>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E4880G|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AAAACTAGTTTCTATCATTTC	0.363																																						dbGAP											0													50.0	51.0	51.0					2																	179612488		2203	4299	6502	-	-	-	SO:0001627	intron_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.10360+5362A>G	2.37:g.179612488T>C			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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E4880G	ENST00000591111.1	37	c.14639		2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246921	0.80024	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60424	0.19	5.75	5.75	0.90469	.	.	.	.	.	T	0.58836	0.2150	L	0.47716	1.5	0.80722	D	1	D	0.55800	0.973	P	0.47864	0.559	T	0.63554	-0.6611	9	0.72032	D	0.01	.	14.9178	0.70812	0.0:0.0:0.0:1.0	.	4880	Q8WZ42-6	.	G	4880;194	ENSP00000354117:E4880G	ENSP00000304714:E194G	E	-	2	0	TTN	179320733	0.985000	0.35326	0.448000	0.26945	0.020000	0.10135	1.224000	0.32539	2.320000	0.78422	0.528000	0.53228	GAA	TTN	-	NULL	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	38	0.00	0	T	NM_133378		179612488	179612488	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	31	29.79	14	SNP	0.954	C
TTN	7273	genome.wustl.edu	37	2	179656840	179656840	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:179656840C>T	ENST00000591111.1	-	10	1845	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	TTN_ENST00000342992.6_Missense_Mutation_p.E541K|TTN_ENST00000342175.6_Missense_Mutation_p.E541K|TTN_ENST00000589042.1_Missense_Mutation_p.E541K|TTN_ENST00000360870.5_Missense_Mutation_p.E541K|TTN_ENST00000460472.2_Missense_Mutation_p.E541K|TTN_ENST00000359218.5_Missense_Mutation_p.E541K			Q8WZ42	TITIN_HUMAN	titin	0					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)			GTAATTTCTTCAGAAATTCTA	0.308																																						dbGAP											0													95.0	95.0	95.0					2																	179656840		2200	4295	6495	-	-	-	SO:0001583	missense	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.1621G>A	2.37:g.179656840C>T	ENSP00000465570:p.Glu541Lys		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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like	p.E541K	ENST00000591111.1	37	c.1621		2	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121312	0.56613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	6.17	6.17	0.99709	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.75177	0.3814	N	0.24115	0.695	0.24350	N	0.99493	B;B;B;B;B	0.30361	0.009;0.009;0.009;0.009;0.277	B;B;B;B;B	0.25506	0.028;0.028;0.053;0.053;0.061	T	0.69978	-0.4998	9	0.87932	D	0	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	541;541;541;541;541	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	541;541;541;541;541;541;137	ENSP00000343764:E541K;ENSP00000434586:E541K;ENSP00000340554:E541K;ENSP00000352154:E541K;ENSP00000354117:E541K;ENSP00000405517:E137K	ENSP00000340554:E541K	E	-	1	0	TTN	179365085	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.638000	0.37165	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom	ENSG00000155657		0.308	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	158	0.00	0	C	NM_133378		179656840	179656840	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	151	25.98	53	SNP	1.000	T
TWF1	5756	genome.wustl.edu	37	12	44191603	44191603	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:44191603G>C	ENST00000395510.2	-	6	646	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E	TWF1_ENST00000325127.4_Missense_Mutation_p.Q207E|TWF1_ENST00000548315.1_Missense_Mutation_p.Q180E|TWF1_ENST00000552521.1_Missense_Mutation_p.Q75E	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	173					barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TGTAGTGTTTGATGCTTAGTG	0.388																																						dbGAP											0													114.0	108.0	110.0					12																	44191603		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.517C>G	12.37:g.44191603G>C	ENSP00000378886:p.Gln173Glu		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.Q207E	ENST00000395510.2	37	c.619	CCDS31780.2	12	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707906	0.68615	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662	T;T;T;T;T	0.30714	1.54;1.54;1.54;1.54;1.52	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.76838	2.35	0.80722	D	1	P;B	0.47484	0.896;0.202	P;B	0.54499	0.754;0.13	T	0.53718	-0.8399	10	0.56958	D	0.05	-24.9071	20.0135	0.97467	0.0:0.0:1.0:0.0	.	180;173	Q12792-3;Q12792	.;TWF1_HUMAN	E	75;173;207;180;211	ENSP00000448750:Q75E;ENSP00000378886:Q173E;ENSP00000321058:Q207E;ENSP00000449428:Q180E;ENSP00000448221:Q211E	ENSP00000321058:Q207E	Q	-	1	0	TWF1	42477870	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.745000	0.94114	0.485000	0.47835	CAA	TWF1	-	NULL	ENSG00000151239		0.388	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TWF1	HGNC	protein_coding	OTTHUMT00000403956.1	69	0.00	0	G	NM_002822		44191603	44191603	-1	no_errors	ENST00000325127	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	1.000	C
TXNL4A	10907	genome.wustl.edu	37	18	77737612	77737612	+	Silent	SNP	G	G	A	rs146668986		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:77737612G>A	ENST00000269601.5	-	2	443	c.243C>T	c.(241-243)gtC>gtT	p.V81V	TXNL4A_ENST00000592837.1_Silent_p.V10V|TXNL4A_ENST00000592957.1_Silent_p.V10V|TXNL4A_ENST00000591711.1_Silent_p.V81V|TXNL4A_ENST00000588162.1_Intron|TXNL4A_ENST00000585474.1_Silent_p.V10V	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	81					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		AGAAAAACATGACAGTACATG	0.294																																					Ovarian(160;2333 2597 11821 36245)	dbGAP											0													121.0	118.0	119.0					18																	77737612		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.243C>T	18.37:g.77737612G>A			B2RC18|O14834	Silent	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.V81	ENST00000269601.5	37	c.243	CCDS32852.1	18																																																																																			TXNL4A	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	ENSG00000141759		0.294	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4A	HGNC	protein_coding	OTTHUMT00000451036.1	65	0.00	0	G	NM_006701		77737612	77737612	-1	no_errors	ENST00000269601	ensembl	human	known	69_37n	silent	46	20.69	12	SNP	1.000	A
TYW1	55253	genome.wustl.edu	37	7	66532313	66532313	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:66532313C>T	ENST00000359626.5	+	10	1361	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	399					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AACACACATTCTATGGAATTG	0.418																																						dbGAP											0													184.0	160.0	168.0					7																	66532313		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1197C>T	7.37:g.66532313C>T			Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	p.F399	ENST00000359626.5	37	c.1197	CCDS5538.1	7																																																																																			TYW1	-	NULL	ENSG00000198874		0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251932.2	146	0.00	0	C	NM_018264		66532313	66532313	+1	no_errors	ENST00000359626	ensembl	human	known	69_37n	silent	80	29.20	33	SNP	1.000	T
UBE2L3	7332	genome.wustl.edu	37	22	21922054	21922054	+	Silent	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr22:21922054G>T	ENST00000342192.4	+	1	219	c.21G>T	c.(19-21)ctG>ctT	p.L7L	UBE2L3_ENST00000458578.2_Intron|UBE2L3_ENST00000545681.1_Silent_p.L7L	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	7					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					GCAGGAGGCTGATGAAGGTAA	0.701																																						dbGAP											0													15.0	17.0	17.0					22																	21922054		2174	4255	6429	-	-	-	SO:0001819	synonymous_variant	0			AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.21G>T	22.37:g.21922054G>T			B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Silent	SNP	pfam_UBQ-conjugat_E2,pfam_UEV_N,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L7	ENST00000342192.4	37	c.21	CCDS13790.1	22																																																																																			UBE2L3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000185651		0.701	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L3	HGNC	protein_coding	OTTHUMT00000320219.1	17	0.00	0	G	NM_198157		21922054	21922054	+1	no_errors	ENST00000342192	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	1.000	T
UBP1	7342	genome.wustl.edu	37	3	33451004	33451004	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:33451004C>G	ENST00000283629.3	-	6	1174	c.645G>C	c.(643-645)caG>caC	p.Q215H	UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000283628.5_Missense_Mutation_p.Q215H|UBP1_ENST00000447368.2_Missense_Mutation_p.Q215H	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	215					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CATTTTCATTCTGCTTAAAGG	0.428																																						dbGAP											0													139.0	132.0	135.0					3																	33451004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.645G>C	3.37:g.33451004C>G	ENSP00000283629:p.Gln215His		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.Q215H	ENST00000283629.3	37	c.645	CCDS2659.1	3	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114763	0.56505	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.17370	2.28;2.28;2.28	6.17	4.41	0.53225	CP2 transcription factor (1);	0.055044	0.85682	D	0.000000	T	0.28366	0.0701	L	0.45137	1.4	0.47778	D	0.999519	D;B	0.63880	0.993;0.011	P;B	0.61592	0.891;0.063	T	0.00867	-1.1534	10	0.42905	T	0.14	-15.6689	11.1022	0.48182	0.0:0.8038:0.0:0.1962	.	215;215	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	H	215	ENSP00000283629:Q215H;ENSP00000395558:Q215H;ENSP00000283628:Q215H	ENSP00000283628:Q215H	Q	-	3	2	UBP1	33426008	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.724000	0.38064	0.954000	0.37851	-0.140000	0.14226	CAG	UBP1	-	pfam_CP2	ENSG00000153560		0.428	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	HGNC	protein_coding	OTTHUMT00000253249.2	96	0.00	0	C	NM_014517		33451004	33451004	-1	no_errors	ENST00000283628	ensembl	human	known	69_37n	missense	70	33.96	36	SNP	1.000	G
UBR2	23304	genome.wustl.edu	37	6	42532065	42532065	+	Missense_Mutation	SNP	C	C	G	rs575726174		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:42532065C>G	ENST00000372899.1	+	1	266	c.8C>G	c.(7-9)tCg>tGg	p.S3W	UBR2_ENST00000372901.1_Missense_Mutation_p.S3W|UBR2_ENST00000372903.2_Missense_Mutation_p.S3W	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	3					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAGATGGCGTCGGAGCTAGAG	0.706																																						dbGAP											0													65.0	62.0	63.0					6																	42532065		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.8C>G	6.37:g.42532065C>G	ENSP00000361990:p.Ser3Trp		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S3W	ENST00000372899.1	37	c.8	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691315	0.88735	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73897	-0.79;0.22;0.22	4.9	4.9	0.64082	.	0.139150	0.49916	D	0.000125	T	0.69324	0.3098	L	0.44542	1.39	0.80722	D	1	P;D	0.61080	0.953;0.989	P;P	0.51193	0.461;0.662	T	0.75178	-0.3409	10	0.87932	D	0	-1.1467	16.2567	0.82522	0.0:1.0:0.0:0.0	.	3;3	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	W	3	ENSP00000361994:S3W;ENSP00000361990:S3W;ENSP00000361992:S3W	ENSP00000361990:S3W	S	+	2	0	UBR2	42640043	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.653000	0.61462	2.246000	0.74042	0.462000	0.41574	TCG	UBR2	-	NULL	ENSG00000024048		0.706	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	54	0.00	0	C	NM_015255		42532065	42532065	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	G
UBXN8	7993	genome.wustl.edu	37	8	30601689	30601689	+	RNA	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:30601689C>T	ENST00000519246.1	+	0	0							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						TCCGCCTGCACCAGGCGCTTC	0.627																																					Colon(169;855 1943 17895 39459 47884)	dbGAP											0													49.0	53.0	52.0					8																	30601689		1893	4109	6002	-	-	-			0			D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30601689C>T			Q7Z6F2	RNA	SNP	-	NULL	ENST00000519246.1	37	NULL		8																																																																																			UBXN8	-	-	ENSG00000104691		0.627	UBXN8-001	KNOWN	basic	processed_transcript	UBXN8	HGNC	processed_transcript	OTTHUMT00000375957.1	67	0.00	0	C	NM_005671		30601689	30601689	+1	no_errors	ENST00000517341	ensembl	human	known	69_37n	rna	29	27.50	11	SNP	0.000	T
UGP2	7360	genome.wustl.edu	37	2	64085017	64085017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:64085017G>T	ENST00000337130.5	+	3	678	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Nonsense_Mutation_p.E77*|UGP2_ENST00000467648.2_Nonsense_Mutation_p.E57*|UGP2_ENST00000394417.2_Nonsense_Mutation_p.E57*	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	68					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATTTTTGCAAGAAAAGGGGCC	0.393																																						dbGAP											0													144.0	170.0	161.0					2																	64085017		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.202G>T	2.37:g.64085017G>T	ENSP00000338703:p.Glu68*		Q07131|Q0P6K2|Q86Y81|Q9BU15	Nonsense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.E68*	ENST00000337130.5	37	c.202	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.449244	0.96205	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	.	.	.	6.06	6.06	0.98353	.	0.048761	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-14.5604	19.3923	0.94587	0.0:0.0:1.0:0.0	.	.	.	.	X	57;57;57;68;57;60;77;57;57;57	.	ENSP00000338703:E68X	E	+	1	0	UGP2	63938521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.436000	0.73417	2.882000	0.98803	0.655000	0.94253	GAA	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	ENSG00000169764		0.393	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	70	0.00	0	G	NM_006759		64085017	64085017	+1	no_errors	ENST00000337130	ensembl	human	known	69_37n	nonsense	47	25.40	16	SNP	1.000	T
UGGT1	56886	genome.wustl.edu	37	2	128939725	128939725	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:128939725G>C	ENST00000259253.6	+	37	4152	c.4105G>C	c.(4105-4107)Gag>Cag	p.E1369Q	UGGT1_ENST00000375990.3_Missense_Mutation_p.E1345Q	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1369	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGATCTGAAAGAGTTAAGAGA	0.428																																						dbGAP											0													136.0	140.0	139.0					2																	128939725		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4105G>C	2.37:g.128939725G>C	ENSP00000259253:p.Glu1369Gln		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.E1369Q	ENST00000259253.6	37	c.4105	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823217	0.90873	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.27402	1.67;1.67	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81627	-0.0847	9	.	.	.	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1369	Q9NYU2	UGGG1_HUMAN	Q	1345;1369	ENSP00000365158:E1345Q;ENSP00000259253:E1369Q	.	E	+	1	0	UGGT1	128656195	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.420000	0.97426	2.693000	0.91896	0.650000	0.86243	GAG	UGGT1	-	NULL	ENSG00000136731		0.428	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	67	0.00	0	G	NM_020120		128939725	128939725	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	62	22.50	18	SNP	1.000	C
ULBP2	80328	genome.wustl.edu	37	6	150263239	150263239	+	Missense_Mutation	SNP	C	C	G	rs151083087	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:150263239C>G	ENST00000367351.3	+	1	104	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	11					antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAAGATCCTTCTGTGCCTCCC	0.622																																						dbGAP											0													31.0	32.0	31.0					6																	150263239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.31C>G	6.37:g.150263239C>G	ENSP00000356320:p.Leu11Val		Q5VUN4	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.L11V	ENST00000367351.3	37	c.31	CCDS5222.1	6	.	.	.	.	.	.	.	.	.	.	-	5.202	0.222875	0.09863	.	.	ENSG00000131015	ENST00000367351	T	0.00832	5.64	0.61	-0.8	0.10897	.	.	.	.	.	T	0.00412	0.0013	L	0.47190	1.495	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.40782	0.272;0.34	T	0.48043	-0.9069	8	0.72032	D	0.01	.	.	.	.	.	11;11	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	V	11	ENSP00000356320:L11V	ENSP00000356320:L11V	L	+	1	2	ULBP2	150304932	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.543000	0.06084	-0.367000	0.08052	0.195000	0.17529	CTG	ULBP2	-	NULL	ENSG00000131015		0.622	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP2	HGNC	protein_coding	OTTHUMT00000042669.1	63	0.00	0	C			150263239	150263239	+1	no_errors	ENST00000367351	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.001	G
ULK2	9706	genome.wustl.edu	37	17	19720149	19720149	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:19720149C>G	ENST00000395544.4	-	13	1508	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	ULK2_ENST00000361658.2_Missense_Mutation_p.D337H|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	337					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D337Y(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGGCAGAATCTTTGGAAACT	0.413																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											112.0	105.0	108.0					17																	19720149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1009G>C	17.37:g.19720149C>G	ENSP00000378914:p.Asp337His		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D337H	ENST00000395544.4	37	c.1009	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683612	0.88639	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.79247	-1.25;-1.25	5.56	5.56	0.83823	.	0.052054	0.85682	D	0.000000	D	0.84982	0.5593	M	0.65498	2.005	0.58432	D	0.999999	D	0.65815	0.995	P	0.57371	0.819	D	0.84823	0.0797	10	0.46703	T	0.11	-5.3247	18.5298	0.90987	0.0:1.0:0.0:0.0	.	337	Q8IYT8	ULK2_HUMAN	H	337	ENSP00000354877:D337H;ENSP00000378914:D337H	ENSP00000354877:D337H	D	-	1	0	ULK2	19660741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.274000	0.78538	2.588000	0.87417	0.557000	0.71058	GAT	ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	73	0.00	0	C	NM_014683		19720149	19720149	-1	no_errors	ENST00000361658	ensembl	human	known	69_37n	missense	166	10.75	20	SNP	1.000	G
UNC79	57578	genome.wustl.edu	37	14	94125583	94125583	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:94125583G>C	ENST00000393151.2	+	40	6618	c.6618G>C	c.(6616-6618)aaG>aaC	p.K2206N	UNC79_ENST00000553484.1_Missense_Mutation_p.K2228N|UNC79_ENST00000256339.4_Missense_Mutation_p.K2029N|UNC79_ENST00000555664.1_Missense_Mutation_p.K2167N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2206					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						GCCTCTTGAAGATCCCTTCTA	0.299																																						dbGAP											0													65.0	66.0	66.0					14																	94125583		2202	4297	6499	-	-	-	SO:0001583	missense	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.6618G>C	14.37:g.94125583G>C	ENSP00000376858:p.Lys2206Asn		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K2228N	ENST00000393151.2	37	c.6684		14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186315	0.78789	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25414	1.8;1.83;1.8;1.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.61218	1.895	0.51482	D	0.999929	P	0.45212	0.853	P	0.57776	0.827	T	0.41413	-0.9510	10	0.87932	D	0	-25.4291	19.6436	0.95767	0.0:0.0:1.0:0.0	.	2228	C9JQL1	.	N	2029;2167;2228;2206;2228	ENSP00000256339:K2029N;ENSP00000450868:K2167N;ENSP00000451360:K2228N;ENSP00000376858:K2206N	ENSP00000256339:K2029N	K	+	3	2	KIAA1409	93195336	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.708000	0.61859	2.712000	0.92718	0.650000	0.86243	AAG	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.299	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	80	0.00	0	G	XM_028395		94125583	94125583	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	C
UNC80	285175	genome.wustl.edu	37	2	210685294	210685294	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:210685294G>C	ENST00000439458.1	+	13	2302	c.2222G>C	c.(2221-2223)gGa>gCa	p.G741A	UNC80_ENST00000272845.6_Missense_Mutation_p.G741A	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	741	Gly-rich.				ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGAGATGGTggaggagaagaa	0.542																																						dbGAP											0													76.0	73.0	74.0					2																	210685294		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.2222G>C	2.37:g.210685294G>C	ENSP00000391088:p.Gly741Ala		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.G741A	ENST00000439458.1	37	c.2222	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514379	0.44763	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	D;D	0.95554	-3.74;-3.74	5.83	5.83	0.93111	.	.	.	.	.	D	0.90143	0.6920	N	0.08118	0	0.80722	D	1	B	0.29432	0.244	B	0.28232	0.087	D	0.88172	0.2865	9	0.62326	D	0.03	-5.2129	17.9079	0.88925	0.0:0.0:1.0:0.0	.	741	Q8N2C7	UNC80_HUMAN	A	741	ENSP00000391088:G741A;ENSP00000272845:G741A	ENSP00000272845:G741A	G	+	2	0	UNC80	210393539	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.662000	0.68032	2.755000	0.94549	0.557000	0.71058	GGA	UNC80	-	NULL	ENSG00000144406		0.542	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		56	0.00	0	G	NM_182587		210685294	210685294	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	missense	38	26.42	14	SNP	1.000	C
UPF3A	65110	genome.wustl.edu	37	13	115048332	115048332	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:115048332C>T	ENST00000375299.3	+	3	391	c.335C>T	c.(334-336)tCa>tTa	p.S112L	UPF3A_ENST00000351487.5_Missense_Mutation_p.S112L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	112	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CATCTCTACTCAAGAGCATAC	0.338																																						dbGAP											0													142.0	133.0	136.0					13																	115048332		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.335C>T	13.37:g.115048332C>T	ENSP00000364448:p.Ser112Leu		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.S112L	ENST00000375299.3	37	c.335	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	C	31	5.102190	0.94245	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.74842	-0.88;-0.88	4.63	4.63	0.57726	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.066897	0.64402	D	0.000006	D	0.88702	0.6508	M	0.92169	3.28	0.58432	D	0.999995	D;D;D	0.76494	0.974;0.999;0.973	D;D;P	0.65323	0.933;0.934;0.846	D	0.91799	0.5450	9	.	.	.	-9.814	17.4884	0.87694	0.0:1.0:0.0:0.0	.	112;112;112	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	L	112	ENSP00000364448:S112L;ENSP00000329592:S112L	.	S	+	2	0	UPF3A	114066434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.053000	0.76641	2.117000	0.64856	0.650000	0.86243	TCA	UPF3A	-	pfam_Nonsense_mediated_decay_UPF3	ENSG00000169062		0.338	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	146	0.00	0	C			115048332	115048332	+1	no_errors	ENST00000375299	ensembl	human	known	69_37n	missense	133	21.18	36	SNP	1.000	T
USP15	9958	genome.wustl.edu	37	12	62790158	62790158	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:62790158G>T	ENST00000280377.5	+	20	2712	c.2654G>T	c.(2653-2655)gGa>gTa	p.G885V	USP15_ENST00000353364.3_Missense_Mutation_p.G856V|USP15_ENST00000393654.3_Missense_Mutation_p.G860V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	885	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G856A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTATGGAGGGATGGGA	0.373																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											1	Substitution - Missense(1)	kidney(1)											118.0	108.0	111.0					12																	62790158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2654G>T	12.37:g.62790158G>T	ENSP00000280377:p.Gly885Val		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.G885V	ENST00000280377.5	37	c.2654	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008234	0.93346	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;D;T	0.84873	0.48;0.48;-1.91;0.48	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.051373	0.85682	D	0.000000	D	0.95118	0.8418	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96048	0.9029	9	.	.	.	-18.354	19.6937	0.96012	0.0:0.0:1.0:0.0	.	885;856	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	856;885;860;87	ENSP00000258123:G856V;ENSP00000280377:G885V;ENSP00000377264:G860V;ENSP00000448372:G87V	.	G	+	2	0	USP15	61076425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.720000	0.93068	0.650000	0.86243	GGA	USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000135655		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	124	0.00	0	G	NM_006313		62790158	62790158	+1	no_errors	ENST00000280377	ensembl	human	known	69_37n	missense	110	11.20	14	SNP	1.000	T
USP21	27005	genome.wustl.edu	37	1	161132413	161132413	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:161132413G>C	ENST00000289865.8	+	5	1011	c.790G>C	c.(790-792)Gat>Cat	p.D264H	USP21_ENST00000368001.1_Missense_Mutation_p.D264H|USP21_ENST00000368002.3_Missense_Mutation_p.D264H	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	264	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCTTTGCAGATGTGATTGG	0.498																																						dbGAP											0													41.0	40.0	41.0					1																	161132413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.790G>C	1.37:g.161132413G>C	ENSP00000289865:p.Asp264His		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D264H	ENST00000289865.8	37	c.790	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775127	0.70107	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.34667	1.35;1.35;1.35	5.05	5.05	0.67936	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.385426	0.28828	N	0.014011	T	0.41096	0.1144	L	0.33137	0.985	0.42839	D	0.994045	D	0.71674	0.998	D	0.70227	0.968	T	0.27468	-1.0073	10	0.52906	T	0.07	.	17.3522	0.87327	0.0:0.0:1.0:0.0	.	264	Q9UK80	UBP21_HUMAN	H	264	ENSP00000356981:D264H;ENSP00000289865:D264H;ENSP00000356980:D264H	ENSP00000289865:D264H	D	+	1	0	USP21	159399037	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.950000	0.56676	2.617000	0.88574	0.555000	0.69702	GAT	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000143258		0.498	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	50	0.00	0	G			161132413	161132413	+1	no_errors	ENST00000289865	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	C
USP34	9736	genome.wustl.edu	37	2	61633109	61633109	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:61633109C>T	ENST00000398571.2	-	3	362	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	96					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTACTCTCATCTTGCCACGTG	0.368																																						dbGAP											0													185.0	168.0	173.0					2																	61633109		1881	4107	5988	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.286G>A	2.37:g.61633109C>T	ENSP00000381577:p.Asp96Asn		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D96N	ENST00000398571.2	37	c.286	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129417	0.77549	.	.	ENSG00000115464	ENST00000398571	T	0.13420	2.59	6.17	6.17	0.99709	.	.	.	.	.	T	0.13072	0.0317	L	0.29908	0.895	0.37141	D	0.901695	B	0.23058	0.079	B	0.14023	0.01	T	0.18555	-1.0333	9	0.20046	T	0.44	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	96	Q70CQ2	UBP34_HUMAN	N	96	ENSP00000381577:D96N	ENSP00000381577:D96N	D	-	1	0	USP34	61486613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.934000	0.56553	2.941000	0.99782	0.655000	0.94253	GAT	USP34	-	NULL	ENSG00000115464		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	115	0.00	0	C			61633109	61633109	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	88	27.27	33	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	144835051	144835051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:144835051C>T	ENST00000367545.3	+	35	4951	c.4951C>T	c.(4951-4953)Cag>Tag	p.Q1651*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1651	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTAGAACCATCAGAACCAGCT	0.323																																						dbGAP											0													72.0	71.0	71.0					6																	144835051		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4951C>T	6.37:g.144835051C>T	ENSP00000356515:p.Gln1651*		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q1651*	ENST00000367545.3	37	c.4951	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	45	11.625720	0.99583	.	.	ENSG00000152818	ENST00000367545	.	.	.	4.84	4.84	0.62591	.	0.145724	0.31660	N	0.007277	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.3013	0.90164	0.0:1.0:0.0:0.0	.	.	.	.	X	1651	.	ENSP00000356515:Q1651X	Q	+	1	0	UTRN	144876744	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.412000	0.59787	2.396000	0.81511	0.591000	0.81541	CAG	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.323	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	39	0.00	0	C			144835051	144835051	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	nonsense	52	16.13	10	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	145118986	145118986	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:145118986G>A	ENST00000367545.3	+	63	9105	c.9105G>A	c.(9103-9105)gtG>gtA	p.V3035V	UTRN_ENST00000367526.4_Silent_p.V590V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3035	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAATAAGTGTGAAAGAGTTTA	0.378																																						dbGAP											0													88.0	91.0	90.0					6																	145118986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9105G>A	6.37:g.145118986G>A			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.V3035	ENST00000367545.3	37	c.9105	CCDS34547.1	6																																																																																			UTRN	-	pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin	ENSG00000152818		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	76	0.00	0	G			145118986	145118986	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	silent	81	21.36	22	SNP	0.692	A
VCL	7414	genome.wustl.edu	37	10	75868884	75868884	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:75868884C>T	ENST00000211998.4	+	18	2809	c.2715C>T	c.(2713-2715)ctC>ctT	p.L905L	VCL_ENST00000372755.3_Silent_p.L905L|VCL_ENST00000417648.2_Silent_p.L166L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	905	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCAGACAGCTCCATGATGAAG	0.507																																						dbGAP											0													75.0	68.0	71.0					10																	75868884		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2715C>T	10.37:g.75868884C>T			Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.L905	ENST00000211998.4	37	c.2715	CCDS7341.1	10																																																																																			VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.507	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		25	0.00	0	C	NM_003373, NM_014000		75868884	75868884	+1	no_errors	ENST00000211998	ensembl	human	known	69_37n	silent	19	42.42	14	SNP	1.000	T
VCPIP1	80124	genome.wustl.edu	37	8	67546774	67546774	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:67546774C>G	ENST00000310421.4	-	3	3889	c.3631G>C	c.(3631-3633)Gag>Cag	p.E1211Q		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1211					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTAGTCATCTCAGCATCTTGA	0.428																																					NSCLC(179;265 2915 6144 43644)	dbGAP											0													210.0	178.0	189.0					8																	67546774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3631G>C	8.37:g.67546774C>G	ENSP00000309031:p.Glu1211Gln		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E1211Q	ENST00000310421.4	37	c.3631	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006747	0.35415	.	.	ENSG00000175073	ENST00000310421	T	0.35605	1.3	5.74	4.87	0.63330	.	0.276047	0.34555	N	0.003861	T	0.30103	0.0754	L	0.29908	0.895	0.41875	D	0.990299	B	0.20052	0.041	B	0.20767	0.031	T	0.08848	-1.0702	10	0.72032	D	0.01	-0.9991	14.6032	0.68456	0.0:0.9301:0.0:0.0699	.	1211	Q96JH7	VCIP1_HUMAN	Q	1211	ENSP00000309031:E1211Q	ENSP00000309031:E1211Q	E	-	1	0	VCPIP1	67709328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.172000	0.77604	1.422000	0.47177	0.591000	0.81541	GAG	VCPIP1	-	NULL	ENSG00000175073		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	89	0.00	0	C			67546774	67546774	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	1.000	G
VCX	26609	genome.wustl.edu	37	X	7811247	7811247	+	Start_Codon_SNP	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:7811247G>C	ENST00000381059.3	+	2	222	c.3G>C	c.(1-3)atG>atC	p.M1I	VCX_ENST00000341408.4_Start_Codon_SNP_p.M1I	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	1					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TGCGGAAGATGAGTCCAAAGC	0.622																																						dbGAP											0													46.0	43.0	44.0					X																	7811247		2161	4164	6325	-	-	-	SO:0001582	initiator_codon_variant	0			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.3G>C	X.37:g.7811247G>C	ENSP00000370447:p.Met1Ile		A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	NULL	p.M1I	ENST00000381059.3	37	c.3	CCDS14128.1	X	.	.	.	.	.	.	.	.	.	.	-	7.165	0.586409	0.13749	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.19532	2.14;2.14	0.167	0.167	0.15006	.	.	.	.	.	T	0.19406	0.0466	.	.	.	0.80722	D	1	B	0.33000	0.393	B	0.36030	0.216	T	0.10567	-1.0624	7	0.87932	D	0	.	.	.	.	.	1	Q9H320	VCX1_HUMAN	I	1	ENSP00000370447:M1I;ENSP00000344144:M1I	ENSP00000344144:M1I	M	+	3	0	VCX	7771247	0.002000	0.14202	0.004000	0.12327	0.004000	0.04260	0.745000	0.26259	0.270000	0.21984	0.274000	0.19336	ATG	VCX	-	NULL	ENSG00000182583		0.622	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX	HGNC	protein_coding	OTTHUMT00000071474.1	163	0.00	0	G	NM_013452	Missense_Mutation	7811247	7811247	+1	no_errors	ENST00000381059	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	0.004	C
VEZT	55591	genome.wustl.edu	37	12	95689989	95689989	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr12:95689989G>C	ENST00000436874.1	+	11	1891	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E548Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	596					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TAAAGCTTCAGAGGCAGAAAG	0.398																																						dbGAP											0													42.0	44.0	43.0					12																	95689989		1862	4081	5943	-	-	-	SO:0001583	missense	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1786G>C	12.37:g.95689989G>C	ENSP00000410083:p.Glu596Gln		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.E596Q	ENST00000436874.1	37	c.1786	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894360	0.91889	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.30448	1.53;1.53;1.53	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.61703	1.905	0.54753	D	0.999987	D	0.63880	0.993	P	0.50352	0.638	T	0.42649	-0.9439	10	0.66056	D	0.02	-40.9225	19.876	0.96870	0.0:0.0:1.0:0.0	.	596	Q9HBM0	VEZA_HUMAN	Q	596;548;552;596	ENSP00000410083:E596Q;ENSP00000261219:E548Q;ENSP00000380894:E552Q	ENSP00000261219:E548Q	E	+	1	0	VEZT	94214120	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	8.524000	0.90579	2.763000	0.94921	0.650000	0.86243	GAG	VEZT	-	NULL	ENSG00000028203		0.398	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	41	0.00	0	G	NM_017599		95689989	95689989	+1	no_errors	ENST00000436874	ensembl	human	known	69_37n	missense	42	31.25	20	SNP	1.000	C
VIL1	7429	genome.wustl.edu	37	2	219296867	219296867	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:219296867C>T	ENST00000248444.5	+	12	1390	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	VIL1_ENST00000392114.2_Silent_p.L123L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	434	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACCTACCTCATCGGCGAGA	0.577																																						dbGAP											0													96.0	72.0	80.0					2																	219296867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1302C>T	2.37:g.219296867C>T			B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.L434	ENST00000248444.5	37	c.1302	CCDS2417.1	2																																																																																			VIL1	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000127831		0.577	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	45	0.00	0	C	NM_007127		219296867	219296867	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	0.776	T
VIPAS39	63894	genome.wustl.edu	37	14	77900251	77900251	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:77900251C>T	ENST00000553888.1	-	16	1623	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	VIPAS39_ENST00000448935.2_Silent_p.L322L|VIPAS39_ENST00000556412.1_Silent_p.L397L|VIPAS39_ENST00000327028.4_Silent_p.L358L|VIPAS39_ENST00000343765.2_Silent_p.L371L|VIPAS39_ENST00000557658.1_Silent_p.L371L	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	371					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CCAGGGCTGTCAGCACATACT	0.488																																						dbGAP											0													89.0	81.0	84.0					14																	77900251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1113G>A	14.37:g.77900251C>T			B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	pfam_Golgin_subfamily_A_member_5	p.L371	ENST00000553888.1	37	c.1113	CCDS9862.1	14																																																																																			VIPAS39	-	pfam_Golgin_subfamily_A_member_5	ENSG00000151445		0.488	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	60	0.00	0	C	NM_022067		77900251	77900251	-1	no_errors	ENST00000343765	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	1.000	T
VIT	5212	genome.wustl.edu	37	2	37041381	37041381	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:37041381C>G	ENST00000389975.3	+	15	2216	c.1914C>G	c.(1912-1914)gtC>gtG	p.V638V	VIT_ENST00000404084.1_Silent_p.V590V|VIT_ENST00000401530.1_Silent_p.V617V|VIT_ENST00000379241.3_Silent_p.V616V|VIT_ENST00000497382.1_Silent_p.V307V|VIT_ENST00000379242.3_Silent_p.V653V	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	638	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGCTAGAAGTCATTGCCACTC	0.507																																						dbGAP											0													129.0	106.0	114.0					2																	37041381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1914C>G	2.37:g.37041381C>G			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.V653	ENST00000389975.3	37	c.1959	CCDS54347.1	2																																																																																			VIT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000205221		0.507	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		55	0.00	0	C			37041381	37041381	+1	no_errors	ENST00000379242	ensembl	human	known	69_37n	silent	21	22.22	6	SNP	1.000	G
VN1R4	317703	genome.wustl.edu	37	19	53770365	53770365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:53770365G>T	ENST00000311170.4	-	1	607	c.554C>A	c.(553-555)tCa>tAa	p.S185*	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	185					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ATCAGGGAATGATAACAACAT	0.498										HNSCC(26;0.072)																												dbGAP											0													35.0	34.0	34.0					19																	53770365		2199	4297	6496	-	-	-	SO:0001587	stop_gained	0			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.554C>A	19.37:g.53770365G>T	ENSP00000310856:p.Ser185*		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Nonsense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	p.S185*	ENST00000311170.4	37	c.554	CCDS33099.1	19	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977257	0.34848	.	.	ENSG00000228567	ENST00000311170	.	.	.	2.28	-1.24	0.09435	.	2.220270	0.02573	N	0.097967	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	6.3991	0.21628	0.4073:0.0:0.5926:0.0	.	.	.	.	X	185	.	ENSP00000310856:S185X	S	-	2	0	VN1R4	58462177	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.626000	0.02035	-0.180000	0.10637	-0.281000	0.10026	TCA	VN1R4	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000228567		0.498	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	HGNC	protein_coding	OTTHUMT00000464287.1	58	0.00	0	G	NM_173857		53770365	53770365	-1	no_errors	ENST00000311170	ensembl	human	known	69_37n	nonsense	38	17.02	8	SNP	0.001	T
VPS13A	23230	genome.wustl.edu	37	9	79853230	79853230	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:79853230G>A	ENST00000360280.3	+	19	2088	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	VPS13A_ENST00000376634.4_Missense_Mutation_p.E610K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E610K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E610K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	610					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTCCAAAAGAGGTACATCT	0.343																																						dbGAP											0													71.0	72.0	72.0					9																	79853230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1828G>A	9.37:g.79853230G>A	ENSP00000353422:p.Glu610Lys		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E610K	ENST00000360280.3	37	c.1828	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336432	0.60963	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.44	3.53	0.40419	.	0.384485	0.27715	N	0.018149	T	0.33760	0.0874	L	0.47716	1.5	0.80722	D	1	B;B;P;P	0.35923	0.218;0.418;0.528;0.528	B;B;B;B	0.29862	0.075;0.054;0.108;0.108	T	0.08411	-1.0723	10	0.14656	T	0.56	.	10.2664	0.43457	0.0735:0.1374:0.7891:0.0	.	610;610;610;610	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	610	ENSP00000365821:E610K;ENSP00000365823:E610K;ENSP00000353422:E610K;ENSP00000349985:E610K	ENSP00000349985:E610K	E	+	1	0	VPS13A	79043050	1.000000	0.71417	0.666000	0.29783	0.901000	0.52897	5.076000	0.64413	1.236000	0.43740	0.585000	0.79938	GAG	VPS13A	-	NULL	ENSG00000197969		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	81	0.00	0	G	NM_015186		79853230	79853230	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	63	27.27	24	SNP	0.989	A
VPS13D	55187	genome.wustl.edu	37	1	12381932	12381932	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:12381932C>G	ENST00000358136.3	+	33	7745	c.7615C>G	c.(7615-7617)Caa>Gaa	p.Q2539E	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q2539E	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGTACAAATTCAAATGGAGTT	0.398																																						dbGAP											0													113.0	107.0	109.0					1																	12381932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7615C>G	1.37:g.12381932C>G	ENSP00000350854:p.Gln2539Glu			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q2539E	ENST00000358136.3	37	c.7615	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.220846|3.220846	0.58560|0.58560	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51574	.|0.7;0.71	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.056576	.|0.64402	.|D	.|0.000001	T|T	0.41971|0.41971	0.1182|0.1182	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23650	.|0.089;0.003;0.001	.|B;B;B	.|0.25506	.|0.061;0.007;0.003	T|T	0.40001|0.40001	-0.9586|-0.9586	5|10	.|0.02654	.|T	.|1	.|.	18.9536|18.9536	0.92649|0.92649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|446;2539;2539	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	L|E	1361|2539	.|ENSP00000348666:Q2539E;ENSP00000350854:Q2539E	.|ENSP00000348666:Q2539E	F|Q	+|+	3|1	2|0	VPS13D|VPS13D	12304519|12304519	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.982000|0.982000	0.71751|0.71751	7.442000|7.442000	0.80503|0.80503	2.541000|2.541000	0.85698|0.85698	0.491000|0.491000	0.48974|0.48974	TTC|CAA	VPS13D	-	NULL	ENSG00000048707		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	67	0.00	0	C	NM_015378		12381932	12381932	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	43	25.86	15	SNP	1.000	G
VPS33B	26276	genome.wustl.edu	37	15	91551139	91551139	+	Silent	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:91551139C>G	ENST00000333371.3	-	7	812	c.459G>C	c.(457-459)ctG>ctC	p.L153L	VPS33B_ENST00000535906.1_Silent_p.L126L|VPS33B_ENST00000535843.1_Silent_p.L62L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	153					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTCCATGCTCAGCAGATCCA	0.507																																						dbGAP											0													147.0	139.0	141.0					15																	91551139		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.459G>C	15.37:g.91551139C>G			B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L153	ENST00000333371.3	37	c.459	CCDS10369.1	15																																																																																			VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000184056		0.507	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	65	0.00	0	C	NM_018668		91551139	91551139	-1	no_errors	ENST00000333371	ensembl	human	known	69_37n	silent	48	26.15	17	SNP	1.000	G
VTI1B	10490	genome.wustl.edu	37	14	68129245	68129245	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:68129245C>A	ENST00000554659.1	-	2	464	c.123G>T	c.(121-123)aaG>aaT	p.K41N	RP11-1012A1.4_ENST00000553306.1_3'UTR|RP11-1012A1.4_ENST00000554493.1_5'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	41					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TCAATTTCTTCTTTTCTTCTA	0.363																																						dbGAP											0													112.0	108.0	109.0					14																	68129245		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.123G>T	14.37:g.68129245C>A	ENSP00000450731:p.Lys41Asn		O43547|Q96J28	Missense_Mutation	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.K41N	ENST00000554659.1	37	c.123	CCDS9786.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.035833|3.035833	0.54896|0.54896	.|.	.|.	ENSG00000100568|ENSG00000258466	ENST00000554659|ENST00000557564	.|.	.|.	.|.	4.86|4.86	3.97|3.97	0.46021|0.46021	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);|.	0.046101|.	0.85682|.	D|.	0.000000|.	T|T	0.63651|0.63651	0.2529|0.2529	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999992|0.999992	B|.	0.13145|.	0.007|.	B|.	0.17722|.	0.019|.	T|T	0.60571|0.60571	-0.7237|-0.7237	9|5	0.62326|.	D|.	0.03|.	.|.	14.0499|14.0499	0.64730|0.64730	0.0:0.9233:0.0:0.0767|0.0:0.9233:0.0:0.0767	.|.	41|.	Q9UEU0|.	VTI1B_HUMAN|.	N|I	41|55	.|.	ENSP00000216456:K41N|.	K|R	-|-	3|2	2|0	VTI1B|RP11-1012A1.4	67198998|67198998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	2.711000|2.711000	0.47177|0.47177	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	AAG|AGA	VTI1B	-	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE	ENSG00000100568		0.363	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1B	HGNC	protein_coding	OTTHUMT00000412558.2	137	0.00	0	C			68129245	68129245	-1	no_errors	ENST00000554659	ensembl	human	known	69_37n	missense	116	27.50	44	SNP	1.000	A
VWA3A	146177	genome.wustl.edu	37	16	22103961	22103961	+	Start_Codon_SNP	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:22103961G>A	ENST00000389398.5	+	1	99	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-101E7.2_ENST00000568603.1_RNA|VWA3A_ENST00000389397.4_5'UTR|RP11-101E7.2_ENST00000568354.1_RNA	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAAATAAATGAAGAAATACA	0.522																																						dbGAP											0													73.0	74.0	74.0					16																	22103961		692	1591	2283	-	-	-	SO:0001582	initiator_codon_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3G>A	16.37:g.22103961G>A	ENSP00000374049:p.Met1Ile		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.M1I	ENST00000389398.5	37	c.3	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736509	0.15574	.	.	ENSG00000175267	ENST00000389398	T	0.10763	2.84	4.65	3.69	0.42338	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.37967	D	0.93317	B	0.22003	0.063	B	0.19666	0.026	T	0.08249	-1.0731	8	0.87932	D	0	.	9.3537	0.38153	0.1024:0.0:0.8976:0.0	.	1	A6NCI4	VWA3A_HUMAN	I	1	ENSP00000374049:M1I	ENSP00000374049:M1I	M	+	3	0	VWA3A	22011462	1.000000	0.71417	0.163000	0.22734	0.079000	0.17450	2.409000	0.44583	1.272000	0.44329	0.655000	0.94253	ATG	VWA3A	-	NULL	ENSG00000175267		0.522	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	74	0.00	0	G		Missense_Mutation	22103961	22103961	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	0.334	A
VWA8	23078	genome.wustl.edu	37	13	42164786	42164786	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:42164786A>C	ENST00000379310.3	-	41	5170	c.5102T>G	c.(5101-5103)cTg>cGg	p.L1701R		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1701						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTGTGGCTCCAGCTCACCCCG	0.453																																						dbGAP											0													94.0	92.0	93.0					13																	42164786		1965	4152	6117	-	-	-	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5102T>G	13.37:g.42164786A>C	ENSP00000368612:p.Leu1701Arg		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.L1701R	ENST00000379310.3	37	c.5102	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	A	2.744	-0.261494	0.05791	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.09445	2.98	5.26	5.26	0.73747	.	0.166984	0.40385	N	0.001101	T	0.10380	0.0254	L	0.40543	1.245	0.80722	D	1	P	0.45986	0.87	B	0.41571	0.36	T	0.17440	-1.0369	10	0.09338	T	0.73	.	15.4672	0.75409	1.0:0.0:0.0:0.0	.	1701	A3KMH1	K0564_HUMAN	R	1605;1701	ENSP00000368612:L1701R	ENSP00000251030:L1605R	L	-	2	0	KIAA0564	41062786	1.000000	0.71417	0.986000	0.45419	0.324000	0.28378	5.635000	0.67841	2.114000	0.64651	0.533000	0.62120	CTG	VWA8	-	NULL	ENSG00000102763		0.453	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	80	0.00	0	A	NM_015058		42164786	42164786	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	55	19.12	13	SNP	1.000	C
WAC	51322	genome.wustl.edu	37	10	28872429	28872429	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:28872429G>C	ENST00000354911.4	+	4	537	c.376G>C	c.(376-378)Gat>Cat	p.D126H	WAC_ENST00000375646.1_Missense_Mutation_p.D81H|WAC_ENST00000375664.4_Missense_Mutation_p.D81H|WAC_ENST00000347934.4_Missense_Mutation_p.D126H|WAC_ENST00000428935.1_Missense_Mutation_p.D81H	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	126					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CAAAACTTCAGATGCAGTAAG	0.323																																						dbGAP											0													120.0	125.0	123.0					10																	28872429		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.376G>C	10.37:g.28872429G>C	ENSP00000346986:p.Asp126His		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.D126H	ENST00000354911.4	37	c.376	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681039	0.88542	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	T;T;T;T;T;T;T	0.51071	1.8;1.81;1.83;1.81;1.35;0.76;0.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.983;0.998;0.995	T	0.58725	-0.7586	10	0.48119	T	0.1	-18.8182	19.9765	0.97312	0.0:0.0:1.0:0.0	.	81;126;126	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	H	81;81;126;126;81;81;81;81;81;81	ENSP00000364816:D81H;ENSP00000364797:D81H;ENSP00000311106:D126H;ENSP00000346986:D126H;ENSP00000399706:D81H;ENSP00000404758:D81H;ENSP00000415645:D81H	ENSP00000311106:D126H	D	+	1	0	WAC	28912435	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.733000	0.93635	0.467000	0.42956	GAT	WAC	-	NULL	ENSG00000095787		0.323	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	86	0.00	0	G	NM_100264		28872429	28872429	+1	no_errors	ENST00000354911	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	1.000	C
WASF2	10163	genome.wustl.edu	37	1	27739104	27739104	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:27739104G>C	ENST00000430629.2	-	7	1001	c.786C>G	c.(784-786)ttC>ttG	p.F262L	WASF2_ENST00000536657.1_Missense_Mutation_p.F262L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	262					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGTCCTCGGAGAAGGAAGGAG	0.478																																						dbGAP											0													200.0	175.0	184.0					1																	27739104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.786C>G	1.37:g.27739104G>C	ENSP00000396211:p.Phe262Leu		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.F262L	ENST00000430629.2	37	c.786	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958909	0.34565	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T	0.40476	1.03	5.51	3.65	0.41850	.	0.172874	0.51477	D	0.000089	T	0.32436	0.0829	L	0.53249	1.67	0.43971	D	0.99665	P;P	0.44139	0.827;0.462	B;B	0.38264	0.269;0.173	T	0.08911	-1.0699	10	0.12766	T	0.61	-8.6696	10.03	0.42094	0.1554:0.0:0.8446:0.0	.	262;262	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	L	262	ENSP00000396211:F262L	ENSP00000396211:F262L	F	-	3	2	WASF2	27611691	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.086000	0.41643	0.893000	0.36288	-0.259000	0.10710	TTC	WASF2	-	NULL	ENSG00000158195		0.478	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	138	0.00	0	G	NM_006990		27739104	27739104	-1	no_errors	ENST00000430629	ensembl	human	known	69_37n	missense	90	23.08	27	SNP	1.000	C
WDHD1	11169	genome.wustl.edu	37	14	55453880	55453880	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr14:55453880G>T	ENST00000360586.3	-	14	1817	c.1752C>A	c.(1750-1752)ttC>ttA	p.F584L	WDHD1_ENST00000421192.1_Missense_Mutation_p.F461L|WDHD1_ENST00000420358.2_Missense_Mutation_p.F461L|WDHD1_ENST00000359167.4_Missense_Mutation_p.F102L	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	584					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GATAAACAATGAAAAGCTGTT	0.378																																						dbGAP											0													80.0	76.0	77.0					14																	55453880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1752C>A	14.37:g.55453880G>T	ENSP00000353793:p.Phe584Leu		C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F584L	ENST00000360586.3	37	c.1752	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	G	2.575	-0.298800	0.05532	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.60672	0.51;1.28;0.17	5.12	1.86	0.25419	.	0.767710	0.13003	N	0.421526	T	0.19604	0.0471	N	0.01649	-0.78	0.24893	N	0.992158	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31724	-0.9933	10	0.02654	T	1	.	2.0444	0.03557	0.1921:0.27:0.4146:0.1233	.	102;584	F8W7P7;O75717	.;WDHD1_HUMAN	L	584;102;461	ENSP00000353793:F584L;ENSP00000352085:F102L;ENSP00000391049:F461L	ENSP00000352085:F102L	F	-	3	2	WDHD1	54523630	0.940000	0.31905	0.995000	0.50966	0.958000	0.62258	0.861000	0.27885	0.642000	0.30620	-0.218000	0.12543	TTC	WDHD1	-	NULL	ENSG00000198554		0.378	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	48	0.00	0	G	NM_007086		55453880	55453880	-1	no_errors	ENST00000360586	ensembl	human	known	69_37n	missense	38	15.22	7	SNP	0.997	T
WDR44	54521	genome.wustl.edu	37	X	117528092	117528092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:117528092C>T	ENST00000254029.3	+	5	1296	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	WDR44_ENST00000371822.5_Nonsense_Mutation_p.Q276*|WDR44_ENST00000371825.3_Nonsense_Mutation_p.Q301*	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	301						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TAAGGATTCTCAGCCTTCTCT	0.398																																						dbGAP											0													136.0	128.0	131.0					X																	117528092		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.901C>T	X.37:g.117528092C>T	ENSP00000254029:p.Gln301*		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q301*	ENST00000254029.3	37	c.901	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.208393|9.208393	0.99101|0.99101	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	.|T	.|0.62639	.|0.01	5.51|5.51	4.6|4.6	0.57074|0.57074	.|.	0.169854|.	0.53938|.	D|.	0.000041|.	.|T	.|0.63896	.|0.2550	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66212	.|-0.5980	.|5	0.22109|0.22109	T|T	0.4|0.4	-15.6944|-15.6944	14.8496|14.8496	0.70286|0.70286	0.0:0.8597:0.1403:0.0|0.0:0.8597:0.1403:0.0	.|.	.|.	.|.	.|.	X|L	276;301;301|200	.|ENSP00000360914:S200L	ENSP00000254029:Q301X|ENSP00000360914:S200L	Q|S	+|+	1|2	0|0	WDR44|WDR44	117412120|117412120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.578000|5.578000	0.67450|0.67450	2.300000|2.300000	0.77407|0.77407	0.600000|0.600000	0.82982|0.82982	CAG|TCA	WDR44	-	NULL	ENSG00000131725		0.398	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	114	0.00	0	C	NM_019045		117528092	117528092	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	nonsense	47	30.43	21	SNP	1.000	T
WDR61	80349	genome.wustl.edu	37	15	78585121	78585121	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr15:78585121C>G	ENST00000267973.2	-	5	427	c.156G>C	c.(154-156)gaG>gaC	p.E52D	WDR61_ENST00000558311.1_Missense_Mutation_p.E52D|RP11-762H8.1_ENST00000560057.1_RNA|WDR61_ENST00000558459.1_Intron			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	52					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGTCCAGCCTCTCATCACGCC	0.517																																						dbGAP											0													58.0	54.0	55.0					15																	78585121		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.156G>C	15.37:g.78585121C>G	ENSP00000267973:p.Glu52Asp		D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E52D	ENST00000267973.2	37	c.156	CCDS10300.1	15	.	.	.	.	.	.	.	.	.	.	C	9.299	1.052709	0.19907	.	.	ENSG00000140395	ENST00000267973	T	0.81415	-1.49	5.91	1.76	0.24704	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190295	0.53938	N	0.000043	T	0.59622	0.2207	N	0.16233	0.39	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.50127	-0.8864	10	0.51188	T	0.08	-6.7063	1.3862	0.02240	0.1426:0.4233:0.1389:0.2952	.	52;52	B4E387;Q9GZS3	.;WDR61_HUMAN	D	52	ENSP00000267973:E52D	ENSP00000267973:E52D	E	-	3	2	WDR61	76372176	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.564000	0.23563	0.399000	0.25367	-0.176000	0.13171	GAG	WDR61	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000140395		0.517	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR61	HGNC	protein_coding	OTTHUMT00000289803.3	44	0.00	0	C	NM_025234		78585121	78585121	-1	no_errors	ENST00000267973	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	G
WIPI2	26100	genome.wustl.edu	37	7	5256731	5256731	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr7:5256731G>A	ENST00000288828.4	+	6	721	c.489G>A	c.(487-489)gcG>gcA	p.A163A	WIPI2_ENST00000401525.3_Silent_p.A145A|WIPI2_ENST00000404704.3_Silent_p.A163A|WIPI2_ENST00000382384.2_Silent_p.A145A|WIPI2_ENST00000484262.1_Silent_p.A104A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	163					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCCTGTGTGCGCTGTCAATCA	0.488																																						dbGAP											0													164.0	124.0	138.0					7																	5256731		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.489G>A	7.37:g.5256731G>A			B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.A163	ENST00000288828.4	37	c.489	CCDS5339.1	7																																																																																			WIPI2	-	superfamily_WD40_repeat_dom	ENSG00000157954		0.488	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	51	0.00	0	G	NM_015610		5256731	5256731	+1	no_errors	ENST00000288828	ensembl	human	known	69_37n	silent	44	25.00	15	SNP	0.002	A
WLS	79971	genome.wustl.edu	37	1	68603524	68603524	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:68603524G>C	ENST00000262348.4	-	11	1708	c.1455C>G	c.(1453-1455)gtC>gtG	p.V485V	WLS_ENST00000370976.3_Silent_p.V394V|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Silent_p.V485V|WLS_ENST00000354777.2_Silent_p.V483V|GNG12-AS1_ENST00000434072.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	485					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TCAGAGCAAAGACATACAGAT	0.463																																						dbGAP											0													147.0	135.0	139.0					1																	68603524		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1455C>G	1.37:g.68603524G>C			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	NULL	p.V485	ENST00000262348.4	37	c.1455	CCDS642.1	1																																																																																			WLS	-	NULL	ENSG00000116729		0.463	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	55	0.00	0	G	NM_024911		68603524	68603524	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	silent	37	15.91	7	SNP	1.000	C
WLS	79971	genome.wustl.edu	37	1	68624928	68624928	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:68624928C>G	ENST00000262348.4	-	3	635	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q	WLS_ENST00000370976.3_Missense_Mutation_p.E37Q|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.E128Q|WLS_ENST00000354777.2_Missense_Mutation_p.E126Q|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	128	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TCTGCATTTTCTCCTGCAAGA	0.428																																						dbGAP											0													103.0	88.0	93.0					1																	68624928		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.382G>C	1.37:g.68624928C>G	ENSP00000262348:p.Glu128Gln		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.E128Q	ENST00000262348.4	37	c.382	CCDS642.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.547324|2.547324	0.45383|0.45383	.|.	.|.	ENSG00000116729|ENSG00000116729	ENST00000534713|ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000530486;ENST00000471243	.|T;T;T;T;T;T	.|0.45276	.|1.54;1.54;1.54;0.9;1.54;1.54	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.203985|0.203985	0.50627|0.50627	D|D	0.000103|0.000103	T|T	0.28333|0.28333	0.0700|0.0700	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P;B;B;P	.|0.36282	.|0.546;0.22;0.026;0.546	.|B;B;B;B	.|0.31101	.|0.071;0.124;0.051;0.071	T|T	0.07751|0.07751	-1.0756|-1.0756	6|10	.|0.25106	.|T	.|0.35	-14.1715|-14.1715	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|128;37;128;126	.|F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.|.;.;WLS_HUMAN;.	D|Q	30|128;126;128;37;83;83	.|ENSP00000446112:E128Q;ENSP00000346829:E126Q;ENSP00000262348:E128Q;ENSP00000360015:E37Q;ENSP00000433111:E83Q;ENSP00000436196:E83Q	.|ENSP00000262348:E128Q	E|E	-|-	3|1	2|0	WLS|WLS	68397516|68397516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.149000|0.149000	0.21700|0.21700	5.416000|5.416000	0.66417|0.66417	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAG|GAA	WLS	-	NULL	ENSG00000116729		0.428	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	46	0.00	0	C	NM_024911		68624928	68624928	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	G
WNK3	65267	genome.wustl.edu	37	X	54319739	54319739	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:54319739C>T	ENST00000375159.2	-	8	1714	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E	WNK3_ENST00000375169.3_Missense_Mutation_p.G572E|WNK3_ENST00000354646.2_Missense_Mutation_p.G572E			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	572					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGCAGCTCCTGCCTCAGA	0.393																																						dbGAP											0													72.0	64.0	67.0					X																	54319739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1715G>A	X.37:g.54319739C>T	ENSP00000364301:p.Gly572Glu		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.G572E	ENST00000375159.2	37	c.1715	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301780	0.40694	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.40476	1.03;1.03;1.03	5.6	3.78	0.43462	.	0.350902	0.24511	N	0.037889	T	0.30448	0.0765	L	0.29908	0.895	0.32206	N	0.577201	B;B	0.14805	0.011;0.006	B;B	0.15052	0.012;0.009	T	0.28202	-1.0051	10	0.62326	D	0.03	-4.6718	9.273	0.37684	0.0:0.7742:0.1432:0.0826	.	572;572	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	E	572	ENSP00000364312:G572E;ENSP00000346667:G572E;ENSP00000364301:G572E	ENSP00000346667:G572E	G	-	2	0	WNK3	54336464	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	1.957000	0.40392	0.511000	0.28236	0.594000	0.82650	GGA	WNK3	-	NULL	ENSG00000196632		0.393	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	63	0.00	0	C	NM_020922		54319739	54319739	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	40	28.57	16	SNP	0.999	T
WNT2B	7482	genome.wustl.edu	37	1	113010181	113010181	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:113010181G>T	ENST00000369686.5	+	1	126	c.22G>T	c.(22-24)Gta>Tta	p.V8L	WNT2B_ENST00000256640.5_5'UTR	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	0					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ccttggagtggtagccataag	0.343																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369686.5:c.22G>T	1.37:g.113010181G>T	ENSP00000358700:p.Val8Leu		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.V8L	ENST00000369686.5	37	c.22	CCDS846.1	1	.	.	.	.	.	.	.	.	.	.	g	5.926	0.354874	0.11239	.	.	ENSG00000134245	ENST00000369686	T	0.75477	-0.94	2.61	0.658	0.17855	.	.	.	.	.	T	0.26085	0.0636	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20638	-1.0269	8	0.12103	T	0.63	.	4.2616	0.10744	0.3625:0.0:0.6375:0.0	.	8	Q93097-2	.	L	8	ENSP00000358700:V8L	ENSP00000358700:V8L	V	+	1	0	WNT2B	112811704	0.189000	0.23263	0.000000	0.03702	0.009000	0.06853	0.530000	0.23036	0.169000	0.19679	0.455000	0.32223	GTA	WNT2B	-	NULL	ENSG00000134245		0.343	WNT2B-001	KNOWN	basic|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030691.2	129	0.00	0	G	NM_004185		113010181	113010181	+1	no_errors	ENST00000369686	ensembl	human	known	69_37n	missense	70	18.18	16	SNP	0.000	T
WRN	7486	genome.wustl.edu	37	8	30969164	30969164	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:30969164T>G	ENST00000298139.5	+	19	2371	c.2122T>G	c.(2122-2124)Tct>Gct	p.S708A		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	708	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		S -> F (in dbSNP:rs11574289). {ECO:0000269|Ref.4}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TACTGCAAGTTCTTCAATCCG	0.388			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													110.0	102.0	105.0					8																	30969164		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2122T>G	8.37:g.30969164T>G	ENSP00000298139:p.Ser708Ala		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S708A	ENST00000298139.5	37	c.2122	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	T	9.489	1.100270	0.20552	.	.	ENSG00000165392	ENST00000298139	T	0.15139	2.45	5.25	4.07	0.47477	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.133232	0.49305	D	0.000146	T	0.11495	0.0280	N	0.03608	-0.345	0.28387	N	0.919265	P;P	0.45986	0.785;0.87	P;P	0.53988	0.739;0.681	T	0.04320	-1.0960	10	0.66056	D	0.02	-14.4468	2.9759	0.05937	0.1856:0.1925:0.0:0.6219	.	118;708	Q59F09;Q14191	.;WRN_HUMAN	A	708	ENSP00000298139:S708A	ENSP00000298139:S708A	S	+	1	0	WRN	31088706	1.000000	0.71417	0.989000	0.46669	0.021000	0.10359	2.744000	0.47450	0.805000	0.34159	0.455000	0.32223	TCT	WRN	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.388	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	73	0.00	0	T			30969164	30969164	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	1.000	G
XIRP2	129446	genome.wustl.edu	37	2	168102294	168102294	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:168102294G>A	ENST00000409195.1	+	9	4481	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	XIRP2_ENST00000409273.1_Silent_p.L1242L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1464L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1289					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGATGAACTGAGAGGAGAAG	0.363																																						dbGAP											0													102.0	89.0	93.0					2																	168102294		1899	4131	6030	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4392G>A	2.37:g.168102294G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.L1464	ENST00000409195.1	37	c.4392	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	46	0.00	0	G	NM_152381		168102294	168102294	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	36	28.00	14	SNP	0.994	A
XKR4	114786	genome.wustl.edu	37	8	56435862	56435862	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:56435862C>T	ENST00000327381.6	+	3	1129	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	343						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572																																						dbGAP											0													50.0	48.0	49.0					8																	56435862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1029C>T	8.37:g.56435862C>T			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.L343	ENST00000327381.6	37	c.1029	CCDS34893.1	8																																																																																			XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.572	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	52	0.00	0	C	NM_052898		56435862	56435862	+1	no_errors	ENST00000327381	ensembl	human	known	69_37n	silent	16	56.76	21	SNP	0.017	T
YTHDF1	54915	genome.wustl.edu	37	20	61833941	61833941	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr20:61833941C>T	ENST00000370339.3	-	4	1692	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.E401K	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	451	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACTTCATCTCGGCCACCCCA	0.577																																						dbGAP											0													76.0	77.0	77.0					20																	61833941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1351G>A	20.37:g.61833941C>T	ENSP00000359364:p.Glu451Lys		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.E451K	ENST00000370339.3	37	c.1351	CCDS13511.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.256641	0.95336	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.29142	1.58;1.58	5.02	5.02	0.67125	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.60616	-0.7228	10	0.66056	D	0.02	-51.5455	18.3453	0.90319	0.0:1.0:0.0:0.0	.	451	Q9BYJ9	YTHD1_HUMAN	K	451;401	ENSP00000359364:E451K;ENSP00000359358:E401K	ENSP00000359358:E401K	E	-	1	0	YTHDF1	61304386	1.000000	0.71417	0.930000	0.37139	0.985000	0.73830	7.708000	0.84633	2.339000	0.79563	0.591000	0.81541	GAG	YTHDF1	-	pfam_YTH_domain,pfscan_YTH_domain	ENSG00000149658		0.577	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF1	HGNC	protein_coding	OTTHUMT00000080110.2	42	0.00	0	C	NM_017798		61833941	61833941	-1	no_errors	ENST00000370339	ensembl	human	known	69_37n	missense	38	25.00	13	SNP	1.000	T
ZBTB17	7709	genome.wustl.edu	37	1	16270685	16270685	+	Intron	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:16270685G>A	ENST00000375743.4	-	9	1604				ZBTB17_ENST00000375733.2_Intron|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.S431L|ZBTB17_ENST00000479282.1_5'Flank	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAGCTGATGAGCTCCTGGA	0.726																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1371+109C>T	1.37:g.16270685G>A			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S431L	ENST00000375743.4	37	c.1292	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400795	0.25291	.	.	ENSG00000116809	ENST00000448462	T	0.09723	2.95	0.758	0.758	0.18432	.	.	.	.	.	T	0.05227	0.0139	.	.	.	0.09310	N	1	P;P	0.47604	0.898;0.743	B;B	0.28784	0.094;0.066	T	0.37478	-0.9704	8	0.87932	D	0	.	4.8127	0.13351	0.0:0.0:1.0:0.0	.	450;431	B4DYU5;E7EPQ4	.;.	L	431	ENSP00000391002:S431L	ENSP00000391002:S431L	S	-	2	0	ZBTB17	16143272	0.298000	0.24417	0.023000	0.16930	0.101000	0.19017	2.234000	0.43035	0.697000	0.31718	0.561000	0.74099	TCA	ZBTB17	-	NULL	ENSG00000116809		0.726	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	11	0.00	0	G	NM_003443		16270685	16270685	-1	no_errors	ENST00000448462	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.002	A
ZBTB17	7709	genome.wustl.edu	37	1	16274922	16274922	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:16274922G>C	ENST00000375743.4	-	3	301	c.69C>G	c.(67-69)ctC>ctG	p.L23L	ZBTB17_ENST00000375733.2_Silent_p.L23L|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Silent_p.L23L|ZBTB17_ENST00000479282.1_5'UTR	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	23	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGTCACAGAGAAGCCCCA	0.557																																						dbGAP											0													65.0	63.0	64.0					1																	16274922		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.69C>G	1.37:g.16274922G>C			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L23	ENST00000375743.4	37	c.69	CCDS165.1	1																																																																																			ZBTB17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000116809		0.557	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	30	0.00	0	G	NM_003443		16274922	16274922	-1	no_errors	ENST00000375733	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	0.986	C
ZBTB2	57621	genome.wustl.edu	37	6	151687572	151687572	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr6:151687572G>C	ENST00000325144.4	-	3	769	c.629C>G	c.(628-630)cCt>cGt	p.P210R		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	210					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)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGGAGGAACAGGAGTGGAAAC	0.572																																						dbGAP											0													83.0	80.0	81.0					6																	151687572		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.629C>G	6.37:g.151687572G>C	ENSP00000323183:p.Pro210Arg		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P210R	ENST00000325144.4	37	c.629	CCDS5231.1	6	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384540	0.42308	.	.	ENSG00000181472	ENST00000325144	T	0.05025	3.51	5.35	5.35	0.76521	.	0.297259	0.37857	N	0.001901	T	0.01905	0.0060	N	0.14661	0.345	0.44531	D	0.997482	B	0.19583	0.037	B	0.23150	0.044	T	0.45011	-0.9290	10	0.10111	T	0.7	-21.5422	19.0868	0.93206	0.0:0.0:1.0:0.0	.	210	Q8N680	ZBTB2_HUMAN	R	210	ENSP00000323183:P210R	ENSP00000323183:P210R	P	-	2	0	ZBTB2	151729265	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	7.081000	0.76844	2.503000	0.84419	0.561000	0.74099	CCT	ZBTB2	-	NULL	ENSG00000181472		0.572	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	HGNC	protein_coding	OTTHUMT00000042715.1	70	0.00	0	G	NM_020861		151687572	151687572	-1	no_errors	ENST00000325144	ensembl	human	known	69_37n	missense	53	34.57	28	SNP	0.998	C
ZBTB7B	51043	genome.wustl.edu	37	1	154987144	154987144	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:154987144G>A	ENST00000368426.3	+	3	145	c.8G>A	c.(7-9)aGc>aAc	p.S3N	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S3N|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S3N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S37N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	3					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGATGGGGAGCCCCGAGGAT	0.562																																						dbGAP											0													42.0	47.0	45.0					1																	154987144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.8G>A	1.37:g.154987144G>A	ENSP00000357411:p.Ser3Asn		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_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.S37N	ENST00000368426.3	37	c.110	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	2.942	-0.218706	0.06101	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09445	3.03;3.03;2.98;3.03	3.59	3.59	0.41128	.	0.280909	0.33534	N	0.004814	T	0.04815	0.0130	N	0.14661	0.345	0.28433	N	0.917151	P;P;P	0.51653	0.947;0.909;0.947	D;P;D	0.65140	0.932;0.483;0.932	T	0.10245	-1.0638	10	0.02654	T	1	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	3;3;37	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	N	3;3;37;3	ENSP00000438647:S3N;ENSP00000357411:S3N;ENSP00000406286:S37N;ENSP00000292176:S3N	ENSP00000292176:S3N	S	+	2	0	ZBTB7B	153253768	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	0.927000	0.28818	1.827000	0.53221	0.462000	0.41574	AGC	ZBTB7B	-	NULL	ENSG00000160685		0.562	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	28	0.00	0	G	NM_015872		154987144	154987144	+1	no_errors	ENST00000417934	ensembl	human	known	69_37n	missense	27	17.65	6	SNP	1.000	A
ZC3H13	23091	genome.wustl.edu	37	13	46543353	46543353	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:46543353G>T	ENST00000242848.4	-	14	3674	c.3326C>A	c.(3325-3327)aCt>aAt	p.T1109N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.T1109N|ZC3H13_ENST00000378921.2_Missense_Mutation_p.T65N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1109							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		agcagtggcagtagccacagG	0.562																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													59.0	52.0	54.0					13																	46543353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3326C>A	13.37:g.46543353G>T	ENSP00000242848:p.Thr1109Asn		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.T1109N	ENST00000242848.4	37	c.3326		13	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.908841	0.00508	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.46063	2.51;0.88;1.51	3.14	-1.31	0.09230	.	1.364160	0.04736	N	0.422002	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15235	-1.0444	10	0.17832	T	0.49	.	5.7495	0.18138	0.0:0.3486:0.2945:0.3568	.	1109;1109	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	N	1109;65;1109	ENSP00000242848:T1109N;ENSP00000368201:T65N;ENSP00000282007:T1109N	ENSP00000242848:T1109N	T	-	2	0	ZC3H13	45441354	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.319000	0.19522	-0.297000	0.08934	-0.181000	0.13052	ACT	ZC3H13	-	NULL	ENSG00000123200		0.562	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	91	0.00	0	G	NM_015070		46543353	46543353	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	0.000	T
ZC3H6	376940	genome.wustl.edu	37	2	113057472	113057472	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:113057472G>A	ENST00000409871.1	+	2	480	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E27K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	27							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						tgcaggatttgaagaaataca	0.299																																						dbGAP											0													57.0	56.0	56.0					2																	113057472		935	2073	3008	-	-	-	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.79G>A	2.37:g.113057472G>A	ENSP00000386764:p.Glu27Lys		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E27K	ENST00000409871.1	37	c.79	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633531	0.67015	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.19532	2.14;2.14	4.69	4.69	0.59074	.	0.447361	0.20997	N	0.081924	T	0.26195	0.0639	M	0.68952	2.095	0.42276	D	0.992073	P	0.46987	0.888	B	0.41374	0.355	T	0.11421	-1.0588	10	0.72032	D	0.01	-13.5444	13.8479	0.63479	0.0:0.0:1.0:0.0	.	27	P61129	ZC3H6_HUMAN	K	27	ENSP00000386764:E27K;ENSP00000340298:E27K	ENSP00000340298:E27K	E	+	1	0	ZC3H6	112773943	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.638000	0.61353	2.551000	0.86045	0.650000	0.86243	GAA	ZC3H6	-	NULL	ENSG00000188177		0.299	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	46	0.00	0	G	NM_198581		113057472	113057472	+1	no_errors	ENST00000343936	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	A
ZC3H7A	29066	genome.wustl.edu	37	16	11862259	11862259	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:11862259G>C	ENST00000396516.2	-	11	1469	c.1272C>G	c.(1270-1272)acC>acG	p.T424T	ZC3H7A_ENST00000355758.4_Silent_p.T424T			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	424						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAGATGGTTTGGTAACTGCAC	0.418																																						dbGAP											0													146.0	141.0	143.0					16																	11862259		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1272C>G	16.37:g.11862259G>C			D3DUG5|Q9NPE9	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.T424	ENST00000396516.2	37	c.1272	CCDS10550.1	16																																																																																			ZC3H7A	-	NULL	ENSG00000122299		0.418	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	93	0.00	0	G	NM_014153		11862259	11862259	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	silent	78	24.53	26	SNP	0.070	C
ZDHHC16	84287	genome.wustl.edu	37	10	99216747	99216747	+	3'UTR	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:99216747G>C	ENST00000370854.3	+	0	1422				ZDHHC16_ENST00000345745.5_3'UTR|ZDHHC16_ENST00000370842.2_3'UTR|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370846.4_3'UTR|ZDHHC16_ENST00000353979.3_3'UTR|ZDHHC16_ENST00000393760.1_3'UTR|ZDHHC16_ENST00000352634.4_3'UTR	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TGATCAAAAAGAGCCAGTGGG	0.493																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.*99G>C	10.37:g.99216747G>C			D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	RNA	SNP	-	NULL	ENST00000370854.3	37	NULL	CCDS7460.1	10																																																																																			ZDHHC16	-	-	ENSG00000171307		0.493	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2	9	0.00	0	G	NM_032327		99216747	99216747	+1	no_errors	ENST00000487315	ensembl	human	known	69_37n	rna	5	50.00	5	SNP	0.990	C
ZFX	7543	genome.wustl.edu	37	X	24225861	24225861	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:24225861G>C	ENST00000379177.1	+	8	1256	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	ZFX_ENST00000338565.3_Missense_Mutation_p.E227Q|ZFX_ENST00000379188.3_Missense_Mutation_p.E277Q|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Missense_Mutation_p.E316Q|ZFX_ENST00000304543.5_Missense_Mutation_p.E277Q|ZFX_ENST00000539115.1_Missense_Mutation_p.E48Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	277					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GAGTGAGCCTGAGAATGATCA	0.398																																					Esophageal Squamous(20;306 562 7346 32868 37983)	dbGAP											0													219.0	174.0	189.0					X																	24225861		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.829G>C	X.37:g.24225861G>C	ENSP00000368475:p.Glu277Gln		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E316Q	ENST00000379177.1	37	c.946	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025254	0.54683	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.62	5.62	0.85841	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000002	T	0.63522	0.2518	L	0.48362	1.52	0.46279	D	0.998968	D;D;D	0.69078	0.986;0.997;0.993	P;D;D	0.79108	0.886;0.992;0.936	T	0.59080	-0.7521	10	0.35671	T	0.21	2.3457	18.918	0.92513	0.0:0.0:1.0:0.0	.	316;277;281	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	Q	48;277;46;277;277;316;227;72	ENSP00000438233:E48Q;ENSP00000368486:E277Q;ENSP00000368475:E277Q;ENSP00000304985:E277Q;ENSP00000441382:E316Q;ENSP00000343384:E227Q	ENSP00000304985:E277Q	E	+	1	0	ZFX	24135782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.080000	0.71299	2.501000	0.84356	0.594000	0.82650	GAG	ZFX	-	pfam_Transcrp_activ_Zfx/Zfy-dom	ENSG00000005889		0.398	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	139	0.00	0	G	NM_003410		24225861	24225861	+1	no_errors	ENST00000540034	ensembl	human	known	69_37n	missense	85	14.14	14	SNP	1.000	C
ZDHHC9	51114	genome.wustl.edu	37	X	128946745	128946745	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:128946745C>T	ENST00000357166.6	-	8	1117	c.726G>A	c.(724-726)ctG>ctA	p.L242L	ZDHHC9_ENST00000371064.3_Silent_p.L242L	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	242					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.L242L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GAAATCCAGTCAGTCCCACGA	0.453																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											227.0	185.0	199.0					X																	128946745		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.726G>A	X.37:g.128946745C>T			B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L242	ENST00000357166.6	37	c.726	CCDS35395.1	X																																																																																			ZDHHC9	-	NULL	ENSG00000188706		0.453	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC9	HGNC	protein_coding	OTTHUMT00000058213.1	78	0.00	0	C	NM_016032		128946745	128946745	-1	no_errors	ENST00000357166	ensembl	human	known	69_37n	silent	40	18.37	9	SNP	1.000	T
ZHX1	11244	genome.wustl.edu	37	8	124267582	124267582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:124267582G>C	ENST00000522655.1	-	3	1145	c.605C>G	c.(604-606)tCa>tGa	p.S202*	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.S202*|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.S202*			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	202					cell differentiation (GO:0030154)|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)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCCTCAACTGAGTTATGATG	0.343																																						dbGAP											0													105.0	108.0	107.0					8																	124267582		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.605C>G	8.37:g.124267582G>C	ENSP00000428821:p.Ser202*		Q8IWD8	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S202*	ENST00000522655.1	37	c.605	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.059995	0.98632	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	.	.	.	5.66	5.66	0.87406	.	0.253472	0.25270	N	0.031882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4903	12.5798	0.56383	0.1182:0.0:0.8818:0.0	.	.	.	.	X	202	.	ENSP00000297857:S202X	S	-	2	0	ZHX1	124336763	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	3.880000	0.56145	2.662000	0.90505	0.555000	0.69702	TCA	ZHX1	-	NULL	ENSG00000165156		0.343	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	78	0.00	0	G			124267582	124267582	-1	no_errors	ENST00000297857	ensembl	human	known	69_37n	nonsense	57	27.85	22	SNP	0.986	C
ZMYM2	7750	genome.wustl.edu	37	13	20601421	20601421	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr13:20601421A>T	ENST00000382874.2	+	10	2004	c.1814A>T	c.(1813-1815)tAc>tTc	p.Y605F	ZMYM2_ENST00000382883.3_Missense_Mutation_p.Y87F|ZMYM2_ENST00000382871.2_Missense_Mutation_p.Y605F|ZMYM2_ENST00000382869.3_Missense_Mutation_p.Y605F	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGAAAACTGTACAACTTTTGC	0.358																																						dbGAP											0													83.0	76.0	78.0					13																	20601421		1840	4078	5918	-	-	-	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1814A>T	13.37:g.20601421A>T	ENSP00000372327:p.Tyr605Phe		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.Y605F	ENST00000382874.2	37	c.1814	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329796	0.60743	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883	T;T;T;T	0.42900	2.21;2.21;2.21;0.96	5.35	5.35	0.76521	TRASH (1);Zinc finger, MYM-type (1);	0.140701	0.53938	D	0.000047	T	0.43478	0.1249	L	0.38175	1.15	0.41576	D	0.988717	P	0.52170	0.951	P	0.51866	0.682	T	0.19321	-1.0309	10	0.16896	T	0.51	0.1071	15.3289	0.74190	1.0:0.0:0.0:0.0	.	605	Q9UBW7	ZMYM2_HUMAN	F	605;605;605;605;87	ENSP00000372322:Y605F;ENSP00000372327:Y605F;ENSP00000372324:Y605F;ENSP00000372336:Y87F	ENSP00000372322:Y605F	Y	+	2	0	ZMYM2	19499421	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.272000	0.72575	2.015000	0.59207	0.477000	0.44152	TAC	ZMYM2	-	pfam_Znf_MYM,smart_TRASH	ENSG00000121741		0.358	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	154	0.00	0	A	NM_003453		20601421	20601421	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	missense	102	20.93	27	SNP	1.000	T
ZMYM4	9202	genome.wustl.edu	37	1	35836131	35836131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:35836131C>T	ENST00000314607.6	+	7	1164	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.Q362*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	362					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGGTCTACTCAGCTATTCTG	0.493																																						dbGAP											0													100.0	98.0	99.0					1																	35836131		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1084C>T	1.37:g.35836131C>T	ENSP00000322915:p.Gln362*		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.Q362*	ENST00000314607.6	37	c.1084	CCDS389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184513|4.184513	0.78677|0.78677	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.195359|.	0.44688|.	D|.	0.000421|.	.|T	.|0.76285	.|0.3966	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74990	.|-0.3475	.|3	0.19147|.	T|.	0.46|.	-6.2039|-6.2039	19.3456|19.3456	0.94361|0.94361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	362|110	.|.	ENSP00000322915:Q362X|.	Q|S	+|+	1|2	0|0	ZMYM4|ZMYM4	35608718|35608718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.745000|6.745000	0.74860|0.74860	2.573000|2.573000	0.86826|0.86826	0.591000|0.591000	0.81541|0.81541	CAG|TCA	ZMYM4	-	pfam_Znf_MYM,smart_TRASH	ENSG00000146463		0.493	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	64	0.00	0	C	NM_005095		35836131	35836131	+1	no_errors	ENST00000314607	ensembl	human	known	69_37n	nonsense	41	16.33	8	SNP	1.000	T
ZNF124	7678	genome.wustl.edu	37	1	247320233	247320233	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr1:247320233C>G	ENST00000543802.2	-	4	780	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000340684.6_Missense_Mutation_p.E169Q			Q15973	ZN124_HUMAN	zinc finger protein 124	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TAAGGTTTCTCTCCAGTGTGA	0.438																																						dbGAP											0													126.0	126.0	126.0					1																	247320233		2203	4300	6503	-	-	-	SO:0001583	missense	0			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.691G>C	1.37:g.247320233C>G	ENSP00000440365:p.Glu231Gln		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	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.E231Q	ENST00000543802.2	37	c.691		1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430816	0.43122	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T;T	0.25912	1.77;1.77	0.864	0.864	0.19068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43986	0.1272	M	0.82323	2.585	0.29432	N	0.859786	D;D	0.63880	0.993;0.985	P;B	0.57776	0.827;0.378	T	0.39143	-0.9628	9	0.72032	D	0.01	.	7.5457	0.27766	0.0:1.0:0.0:0.0	.	231;169	Q15973;Q15973-4	ZN124_HUMAN;.	Q	192;169;175	ENSP00000340749:E169Q;ENSP00000440365:E175Q	ENSP00000340749:E169Q	E	-	1	0	ZNF124	245386856	0.438000	0.25602	0.006000	0.13384	0.031000	0.12232	2.717000	0.47227	0.746000	0.32786	0.467000	0.42956	GAG	ZNF124	-	pfscan_Znf_C2H2	ENSG00000196418		0.438	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	ZNF124	HGNC	protein_coding	OTTHUMT00000447393.1	73	0.00	0	C	NM_003431		247320233	247320233	-1	no_errors	ENST00000543802	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	0.999	G
ZNF16	7564	genome.wustl.edu	37	8	146171570	146171570	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:146171570C>T	ENST00000276816.4	-	3	209	c.23G>A	c.(22-24)cGt>cAt	p.R8H	ZNF16_ENST00000394909.2_Missense_Mutation_p.R8H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	8					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGCCTCCTCACGGCGAGTTCT	0.597																																						dbGAP											0													58.0	52.0	54.0					8																	146171570		2203	4299	6502	-	-	-	SO:0001583	missense	0			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.23G>A	8.37:g.146171570C>T	ENSP00000276816:p.Arg8His		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R8H	ENST00000276816.4	37	c.23	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	C	8.570	0.879749	0.17467	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.55588	2.93;2.93;4.41;0.51	3.44	-1.89	0.07689	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16600	-1.0397	9	0.15066	T	0.55	.	0.3659	0.00371	0.2198:0.2543:0.2758:0.2501	.	8	P17020	ZNF16_HUMAN	H	8	ENSP00000276816:R8H;ENSP00000378369:R8H;ENSP00000434321:R8H;ENSP00000432755:R8H	ENSP00000276816:R8H	R	-	2	0	ZNF16	146142374	0.000000	0.05858	0.000000	0.03702	0.504000	0.33889	0.327000	0.19663	-0.439000	0.07222	-0.982000	0.02568	CGT	ZNF16	-	NULL	ENSG00000170631		0.597	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	22	0.00	0	C	NM_006958		146171570	146171570	-1	no_errors	ENST00000276816	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.000	T
ZNF208	7757	genome.wustl.edu	37	19	22155976	22155976	+	Missense_Mutation	SNP	C	C	G	rs184568351	byFrequency	TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:22155976C>G	ENST00000397126.4	-	4	2008	c.1860G>C	c.(1858-1860)aaG>aaC	p.K620N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K520N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTGAGACCTTACTAAAGG	0.368																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											72.0	77.0	76.0					19																	22155976		2114	4252	6366	-	-	-	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1860G>C	19.37:g.22155976C>G	ENSP00000380315:p.Lys620Asn			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.K620N	ENST00000397126.4	37	c.1860	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.492930	0.04322	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35605	1.3	2.66	0.0261	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35128	0.0921	.	.	.	0.09310	N	1	D	0.52996	0.957	P	0.52710	0.707	T	0.20538	-1.0272	8	0.26408	T	0.33	.	5.6278	0.17492	0.0:0.5344:0.3299:0.1357	.	520	O43345	ZN208_HUMAN	N	620;520	ENSP00000380315:K620N	ENSP00000380315:K620N	K	-	3	2	ZNF208	21947816	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.854000	0.00730	0.111000	0.17947	0.306000	0.20318	AAG	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	79	0.00	0	C	NM_007153		22155976	22155976	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	missense	63	27.59	24	SNP	0.000	G
ZNF175	7728	genome.wustl.edu	37	19	52090056	52090056	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:52090056C>T	ENST00000262259.2	+	5	830	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	158					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ACCCATGAGTCACAGTGCTTT	0.428																																						dbGAP											0													90.0	85.0	86.0					19																	52090056		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.472C>T	19.37:g.52090056C>T	ENSP00000262259:p.His158Tyr		A8K9H2	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.H158Y	ENST00000262259.2	37	c.472	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	C	3.932	-0.016056	0.07681	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.2	2.2	0.27929	.	.	.	.	.	T	0.05227	0.0139	N	0.19112	0.55	0.18873	N	0.999982	B	0.15141	0.012	B	0.09377	0.004	T	0.30909	-0.9962	9	0.46703	T	0.11	.	4.8046	0.13314	0.0:0.8263:0.0:0.1737	.	158	Q9Y473	ZN175_HUMAN	Y	158	ENSP00000262259:H158Y	ENSP00000262259:H158Y	H	+	1	0	ZNF175	56781868	.	.	0.006000	0.13384	0.003000	0.03518	.	.	1.563000	0.49615	0.655000	0.94253	CAC	ZNF175	-	NULL	ENSG00000105497		0.428	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	54	0.00	0	C	NM_007147		52090056	52090056	+1	no_errors	ENST00000262259	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	0.006	T
ZNF211	10520	genome.wustl.edu	37	19	58152607	58152607	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:58152607C>T	ENST00000347302.3	+	3	932	c.753C>T	c.(751-753)ctC>ctT	p.L251L	ZNF211_ENST00000391703.3_Silent_p.L190L|ZNF211_ENST00000420680.1_Silent_p.L255L|ZNF211_ENST00000299871.5_Silent_p.L316L|ZNF211_ENST00000541801.1_Silent_p.L242L|ZNF211_ENST00000544273.1_Silent_p.L263L|ZNF211_ENST00000240731.4_Silent_p.L264L|ZNF211_ENST00000254182.7_Silent_p.L242L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGAATCCTCACTAGAGAAG	0.453																																						dbGAP											0													101.0	100.0	101.0					19																	58152607		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.753C>T	19.37:g.58152607C>T			B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	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.H255Y	ENST00000347302.3	37	c.763	CCDS12957.1	19	.	.	.	.	.	.	.	.	.	.	C	4.046	0.006188	0.07866	.	.	ENSG00000121417	ENST00000407202	.	.	.	3.53	1.39	0.22231	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23048	-1.0199	4	.	.	.	.	6.6717	0.23072	0.0:0.6704:0.0:0.3296	.	.	.	.	Y	255	.	.	H	+	1	0	ZNF211	62844419	0.002000	0.14202	0.002000	0.10522	0.822000	0.46500	1.106000	0.31098	0.834000	0.34852	-0.229000	0.12294	CAC	ZNF211	-	NULL	ENSG00000121417		0.453	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	27	0.00	0	C			58152607	58152607	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000407202	ensembl	human	putative	69_37n	missense	17	39.29	11	SNP	0.010	T
ZNF236	7776	genome.wustl.edu	37	18	74620457	74620457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr18:74620457C>T	ENST00000253159.8	+	14	2671	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q827*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	825					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTGGAGCCTCAGCATGTGGT	0.592																																						dbGAP											0													52.0	61.0	58.0					18																	74620457		2096	4225	6321	-	-	-	SO:0001587	stop_gained	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2473C>T	18.37:g.74620457C>T	ENSP00000253159:p.Gln825*		B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q825*	ENST00000253159.8	37	c.2473	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	40	8.478051	0.98829	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.06	5.06	0.68205	.	0.222050	0.38837	N	0.001557	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.7721	0.91896	0.0:1.0:0.0:0.0	.	.	.	.	X	825	.	ENSP00000253159:Q825X	Q	+	1	0	ZNF236	72749445	0.998000	0.40836	0.930000	0.37139	0.443000	0.32047	4.986000	0.63851	2.505000	0.84491	0.563000	0.77884	CAG	ZNF236	-	NULL	ENSG00000130856		0.592	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	24	0.00	0	C			74620457	74620457	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	nonsense	14	46.15	12	SNP	0.999	T
ZNF239	8187	genome.wustl.edu	37	10	44053111	44053111	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr10:44053111C>G	ENST00000306006.6	-	2	1069	c.417G>C	c.(415-417)caG>caC	p.Q139H	ZNF239_ENST00000426961.1_Missense_Mutation_p.Q139H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q139H|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q139H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTGGCCATTCTGGCAAGTTG	0.443																																						dbGAP											0													103.0	94.0	97.0					10																	44053111		1881	4116	5997	-	-	-	SO:0001583	missense	0			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.417G>C	10.37:g.44053111C>G	ENSP00000307774:p.Gln139His		Q5T1G9|Q8TAS5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q139H	ENST00000306006.6	37	c.417	CCDS41502.1	10	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189881	0.38707	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	4.18	-3.98	0.04082	.	.	.	.	.	T	0.01870	0.0059	N	0.02011	-0.69	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.42447	-0.9451	9	0.52906	T	0.07	-10.2521	0.3985	0.00422	0.275:0.2202:0.1354:0.3694	.	139	Q16600	ZN239_HUMAN	H	139	ENSP00000307774:Q139H;ENSP00000363569:Q139H;ENSP00000398202:Q139H;ENSP00000443907:Q139H	ENSP00000307774:Q139H	Q	-	3	2	ZNF239	43373117	.	.	0.008000	0.14137	0.757000	0.42996	.	.	-0.864000	0.04078	0.655000	0.94253	CAG	ZNF239	-	NULL	ENSG00000196793		0.443	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF239	HGNC	protein_coding	OTTHUMT00000047710.1	70	0.00	0	C			44053111	44053111	-1	no_errors	ENST00000306006	ensembl	human	known	69_37n	missense	66	23.26	20	SNP	0.005	G
ZNF280C	55609	genome.wustl.edu	37	X	129380846	129380846	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:129380846T>G	ENST00000370978.4	-	3	318	c.165A>C	c.(163-165)aaA>aaC	p.K55N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	55					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(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAATGGCTGGTTTTGAACTTG	0.368																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.165A>C	X.37:g.129380846T>G	ENSP00000360017:p.Lys55Asn		A8K2V8|Q9NXR3	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.K55N	ENST00000370978.4	37	c.165	CCDS14622.1	X	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933852	0.52866	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.36878	1.23;1.23	3.94	1.12	0.20585	.	.	.	.	.	T	0.40372	0.1114	M	0.71036	2.16	0.27347	N	0.956335	P;B	0.40681	0.727;0.179	B;P	0.44811	0.393;0.461	T	0.32955	-0.9887	9	0.72032	D	0.01	.	6.2132	0.20642	0.0:0.42:0.0:0.58	.	55;55	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	55	ENSP00000360017:K55N;ENSP00000408521:K55N	ENSP00000066465:K55N	K	-	3	2	ZNF280C	129208527	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	0.757000	0.26433	0.015000	0.14971	0.339000	0.21740	AAA	ZNF280C	-	NULL	ENSG00000056277		0.368	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280C	HGNC	protein_coding	OTTHUMT00000058251.1	185	0.00	0	T	NM_017666		129380846	129380846	-1	no_errors	ENST00000370978	ensembl	human	known	69_37n	missense	102	19.05	24	SNP	0.999	G
ZNF285	26974	genome.wustl.edu	37	19	44892086	44892086	+	Silent	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:44892086G>A	ENST00000330997.4	-	4	385	c.321C>T	c.(319-321)ctC>ctT	p.L107L	ZNF285_ENST00000544719.2_Silent_p.L107L|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.L114L	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	107					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(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTCTTCACTGAGGGAAACAT	0.398																																						dbGAP											0													90.0	89.0	89.0					19																	44892086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.321C>T	19.37:g.44892086G>A			Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L107	ENST00000330997.4	37	c.321	CCDS12638.1	19																																																																																			ZNF285	-	NULL	ENSG00000267508		0.398	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	58	0.00	0	G	NM_152354		44892086	44892086	-1	no_errors	ENST00000330997	ensembl	human	known	69_37n	silent	45	34.78	24	SNP	0.003	A
ZNF286A	57335	genome.wustl.edu	37	17	15620239	15620239	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:15620239C>G	ENST00000464847.2	+	5	1754	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000413242.2_Missense_Mutation_p.Q401E|ZNF286A_ENST00000583566.1_Missense_Mutation_p.Q401E|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.Q391E|ZNF286A_ENST00000421016.1_Missense_Mutation_p.Q401E			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AACTAAGCATCAGAGAGTTCA	0.388																																						dbGAP											0													17.0	18.0	17.0					17																	15620239		2153	4244	6397	-	-	-	SO:0001583	missense	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1201C>G	17.37:g.15620239C>G	ENSP00000464218:p.Gln401Glu		B4DKF9|Q96JF3	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.Q401E	ENST00000464847.2	37	c.1201	CCDS11172.1	17	.	.	.	.	.	.	.	.	.	.	c	10.48	1.362905	0.24684	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.17854	2.25;2.25	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001363	T	0.07188	0.0182	N	0.03983	-0.305	0.31474	N	0.668068	B	0.33549	0.417	B	0.31101	0.124	T	0.05053	-1.0909	10	0.54805	T	0.06	-8.4857	9.3106	0.37903	0.2144:0.7856:0.0:0.0	.	401	Q9HBT8	Z286A_HUMAN	E	401;391;401	ENSP00000397163:Q401E;ENSP00000408168:Q391E	ENSP00000435872:Q401E	Q	+	1	0	ZNF286A	15560964	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.241000	0.08940	2.248000	0.74166	0.585000	0.79938	CAG	AC005324.8-001	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000255104		0.388	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286A	Clone_based_vega_gene	protein_coding	OTTHUMT00000130696.4	39	0.00	0	C	NM_020652		15620239	15620239	+1	no_errors	ENST00000413242	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	0.997	G
ZNF43	7594	genome.wustl.edu	37	19	21990526	21990526	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:21990526G>T	ENST00000354959.4	-	4	2482	c.2313C>A	c.(2311-2313)ttC>ttA	p.F771L	ZNF43_ENST00000598381.1_Missense_Mutation_p.F765L|ZNF43_ENST00000594012.1_Missense_Mutation_p.F765L|ZNF43_ENST00000595461.1_Missense_Mutation_p.F765L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	771					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATATTGGTTGAAAGCTTTGC	0.343																																						dbGAP											0													70.0	71.0	71.0					19																	21990526		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2313C>A	19.37:g.21990526G>T	ENSP00000347045:p.Phe771Leu		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	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.F771L	ENST00000354959.4	37	c.2313	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905967	0.72868	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.46063	0.88	1.76	-0.317	0.12736	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50000	0.1590	M	0.90309	3.105	0.29442	N	0.859115	B	0.25955	0.138	B	0.34536	0.185	T	0.55224	-0.8174	9	0.66056	D	0.02	.	6.0451	0.19755	0.3884:0.0:0.6116:0.0	.	771	P17038	ZNF43_HUMAN	L	770;771	ENSP00000347045:F771L	ENSP00000347045:F771L	F	-	3	2	ZNF43	21782366	0.028000	0.19301	0.079000	0.20413	0.968000	0.65278	-0.007000	0.12810	-0.221000	0.09973	0.305000	0.20034	TTC	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.343	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	86	0.00	0	G	NM_003423		21990526	21990526	-1	no_errors	ENST00000354959	ensembl	human	known	69_37n	missense	95	10.38	11	SNP	0.819	T
ZNF432	9668	genome.wustl.edu	37	19	52537917	52537917	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:52537917G>A	ENST00000594154.1	-	5	1227	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y	ZNF432_ENST00000221315.5_Missense_Mutation_p.H339Y			O94892	ZN432_HUMAN	zinc finger protein 432	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H339D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCCTGTATGAGTTCGCTGA	0.408																																						dbGAP											1	Substitution - Missense(1)	lung(1)											116.0	104.0	108.0					19																	52537917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1015C>T	19.37:g.52537917G>A	ENSP00000470488:p.His339Tyr			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.H339Y	ENST00000594154.1	37	c.1015	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624946	0.66901	.	.	ENSG00000256087	ENST00000221315	T	0.67523	-0.27	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84786	0.5549	M	0.93898	3.47	0.32468	N	0.543256	D	0.67145	0.996	D	0.72625	0.978	D	0.88760	0.3256	9	0.87932	D	0	.	12.9715	0.58515	0.0:0.0:1.0:0.0	.	339	O94892	ZN432_HUMAN	Y	339	ENSP00000221315:H339Y	ENSP00000221315:H339Y	H	-	1	0	ZNF432	57229729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.310000	0.89971	1.630000	0.50440	0.585000	0.79938	CAT	ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256087		0.408	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	81	0.00	0	G	NM_014650		52537917	52537917	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	missense	55	32.10	26	SNP	1.000	A
ZNF484	83744	genome.wustl.edu	37	9	95609508	95609508	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:95609508C>T	ENST00000375495.3	-	5	1709	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	ZNF484_ENST00000395505.2_Missense_Mutation_p.E485K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E523K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E485K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAAGGTTTCTCTCCAGTATGA	0.398																																						dbGAP											0													121.0	126.0	124.0					9																	95609508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1561G>A	9.37:g.95609508C>T	ENSP00000364645:p.Glu521Lys		B1AL89|B4DRI2	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.E523K	ENST00000375495.3	37	c.1567	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	20.0	3.929981	0.73327	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	2.36	2.36	0.29203	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39462	0.1079	L	0.45352	1.415	0.35219	D	0.775823	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.52495	-0.8568	9	0.66056	D	0.02	.	10.8327	0.46669	0.0:1.0:0.0:0.0	.	523;521	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	485;523;521;485	ENSP00000378881:E485K;ENSP00000378882:E523K;ENSP00000364645:E521K;ENSP00000364646:E485K	ENSP00000364646:E485K	E	-	1	0	ZNF484	94649329	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	4.696000	0.61774	1.622000	0.50330	0.551000	0.68910	GAG	ZNF484	-	pfscan_Znf_C2H2	ENSG00000127081		0.398	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	76	0.00	0	C	XM_046861		95609508	95609508	-1	no_errors	ENST00000395506	ensembl	human	known	69_37n	missense	58	30.59	26	SNP	1.000	T
ZNF486	90649	genome.wustl.edu	37	19	20307957	20307957	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:20307957G>C	ENST00000335117.8	+	4	495	c.438G>C	c.(436-438)ttG>ttC	p.L146F	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCAATGTTTGACAACTACCC	0.308																																						dbGAP											0													70.0	76.0	74.0					19																	20307957		2187	4294	6481	-	-	-	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.438G>C	19.37:g.20307957G>C	ENSP00000335042:p.Leu146Phe		Q0VG00	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.L146F	ENST00000335117.8	37	c.438	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	g	9.038	0.988914	0.18966	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.36340	1.26	0.149	0.149	0.14863	.	.	.	.	.	T	0.29556	0.0737	L	0.49455	1.56	0.25471	N	0.98783	B	0.22851	0.076	B	0.26614	0.071	T	0.28808	-1.0032	8	0.39692	T	0.17	.	.	.	.	.	146	Q96H40	ZN486_HUMAN	F	185;146	ENSP00000335042:L146F	ENSP00000335042:L146F	L	+	3	2	ZNF486	20168957	0.000000	0.05858	0.050000	0.19076	0.050000	0.14768	-0.190000	0.09615	0.192000	0.20272	0.195000	0.17529	TTG	ZNF486	-	NULL	ENSG00000256229		0.308	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	95	0.00	0	G	NM_052852		20307957	20307957	+1	no_errors	ENST00000335117	ensembl	human	known	69_37n	missense	98	12.50	14	SNP	0.978	C
ZNF510	22869	genome.wustl.edu	37	9	99521982	99521982	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr9:99521982G>C	ENST00000375231.1	-	6	1780	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	ZNF510_ENST00000223428.4_Missense_Mutation_p.S377C			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	377					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)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATGATATTCAGAGGATTTAAC	0.403																																						dbGAP											0													147.0	141.0	143.0					9																	99521982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1130C>G	9.37:g.99521982G>C	ENSP00000364379:p.Ser377Cys		Q5SZP5	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.S377C	ENST00000375231.1	37	c.1130	CCDS35074.1	9	.	.	.	.	.	.	.	.	.	.	g	7.342	0.621079	0.14193	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.06933	3.24;3.24	3.56	-0.341	0.12639	.	.	.	.	.	T	0.09642	0.0237	M	0.81179	2.53	0.09310	N	1	P	0.39782	0.688	B	0.34824	0.19	T	0.21759	-1.0236	9	0.87932	D	0	.	2.3642	0.04315	0.3943:0.0:0.2348:0.3708	.	377	Q9Y2H8	ZN510_HUMAN	C	377	ENSP00000364379:S377C;ENSP00000223428:S377C	ENSP00000223428:S377C	S	-	2	0	ZNF510	98561803	0.000000	0.05858	0.005000	0.12908	0.012000	0.07955	-0.596000	0.05720	-0.168000	0.10853	-0.367000	0.07326	TCT	ZNF510	-	NULL	ENSG00000081386		0.403	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF510	HGNC	protein_coding	OTTHUMT00000053287.1	94	0.00	0	G	NM_014930		99521982	99521982	-1	no_errors	ENST00000223428	ensembl	human	known	69_37n	missense	75	23.47	23	SNP	0.070	C
ZNF548	147694	genome.wustl.edu	37	19	57910114	57910114	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:57910114C>T	ENST00000366197.5	+	3	709	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ZNF548_ENST00000336128.7_Silent_p.F165F|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAGATCTTCACATGCATGG	0.517																																						dbGAP											0													74.0	72.0	73.0					19																	57910114		2050	4228	6278	-	-	-	SO:0001819	synonymous_variant	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.459C>T	19.37:g.57910114C>T			Q96M05	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F165	ENST00000366197.5	37	c.495	CCDS46209.1	19																																																																																			ZNF548	-	NULL	ENSG00000188785		0.517	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	52	0.00	0	C	NM_152909		57910114	57910114	+1	no_errors	ENST00000336128	ensembl	human	known	69_37n	silent	32	34.69	17	SNP	0.000	T
ZNF559	84527	genome.wustl.edu	37	19	9452833	9452833	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:9452833G>C	ENST00000393883.2	+	6	1354	c.706G>C	c.(706-708)Gat>Cat	p.D236H	ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.D300H|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.D236H|ZNF177_ENST00000602856.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.D156H	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	236					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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCAAACTCAAGATGGAGAAAA	0.363																																						dbGAP											0													80.0	82.0	81.0					19																	9452833		2201	4300	6501	-	-	-	SO:0001583	missense	0			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.706G>C	19.37:g.9452833G>C	ENSP00000377461:p.Asp236His		K7EMG6	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.D236H	ENST00000393883.2	37	c.706	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885091	0.17540	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.14640	2.49;2.49	2.34	-4.67	0.03319	.	.	.	.	.	T	0.03608	0.0103	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.29115	0.069;0.233;0.004	B;B;B	0.20384	0.007;0.029;0.002	T	0.33574	-0.9863	9	0.87932	D	0	.	1.341	0.02154	0.3486:0.1542:0.3456:0.1517	.	236;236;156	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	H	236;156;236	ENSP00000442832:D156H;ENSP00000377461:D236H	ENSP00000325393:D236H	D	+	1	0	ZNF559	9313833	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.566000	0.23593	-1.506000	0.01805	-0.391000	0.06502	GAT	ZNF559	-	NULL	ENSG00000188321		0.363	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	53	0.00	0	G	NM_032497		9452833	9452833	+1	no_errors	ENST00000393883	ensembl	human	known	69_37n	missense	45	14.81	8	SNP	0.004	C
ZNF550	162972	genome.wustl.edu	37	19	58058554	58058554	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:58058554C>G	ENST00000457177.1	-	4	1238	c.1058G>C	c.(1057-1059)aGa>aCa	p.R353T	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000325134.5_Missense_Mutation_p.R321T|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.R312T			Q7Z398	ZN550_HUMAN	zinc finger protein 550	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAGCTGCATCTGAAGGCCTT	0.502																																						dbGAP											0													108.0	93.0	98.0					19																	58058554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1058G>C	19.37:g.58058554C>G	ENSP00000469679:p.Arg353Thr		B3KVF6|O43337|Q7Z6D7|Q8NE45	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.R353T	ENST00000457177.1	37	c.1058		19	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651993	0.29336	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.07021	3.23;3.23	3.33	1.17	0.20885	.	.	.	.	.	T	0.02230	0.0069	N	0.01424	-0.875	0.09310	N	1	B	0.32160	0.358	B	0.32864	0.154	T	0.41251	-0.9519	9	0.06757	T	0.87	-0.1303	4.2393	0.10640	0.185:0.5935:0.0:0.2214	.	321	Q7Z398-2	.	T	353;321;312	ENSP00000446224:R321T;ENSP00000422344:R312T	ENSP00000446224:R321T	R	-	2	0	AC003682.1	62750366	0.000000	0.05858	0.065000	0.19835	0.997000	0.91878	-0.594000	0.05733	0.730000	0.32425	0.643000	0.83706	AGA	AC003682.1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251369		0.502	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ZNF550	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000257992.2	73	0.00	0	C	NM_153231		58058554	58058554	-1	no_errors	ENST00000344222	ensembl	human	known	69_37n	missense	72	11.11	9	SNP	0.000	G
ZNF589	51385	genome.wustl.edu	37	3	48298098	48298098	+	Intron	SNP	C	C	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr3:48298098C>G	ENST00000354698.3	+	3	168				ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000454212.1_3'UTR|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGCAGTTCTCTTCCCGTCAT	0.507																																					Colon(9;319 328 25374 27611 50948)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.97-4205C>G	3.37:g.48298098C>G			Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	RNA	SNP	-	NULL	ENST00000354698.3	37	NULL	CCDS43085.1	3																																																																																			ZNF589	-	-	ENSG00000164048		0.507	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF589	HGNC	protein_coding	OTTHUMT00000346124.1	61	0.00	0	C	NM_016089		48298098	48298098	+1	no_errors	ENST00000454212	ensembl	human	known	69_37n	rna	31	31.11	14	SNP	1.000	G
ZNF638	27332	genome.wustl.edu	37	2	71650077	71650077	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:71650077G>C	ENST00000409544.1	+	22	4063	c.3433G>C	c.(3433-3435)Gag>Cag	p.E1145Q	ZNF638_ENST00000409407.1_Missense_Mutation_p.E85Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1145Q|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1145	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACAGCAGGAAGAGCCTTGTGA	0.418																																						dbGAP											0													102.0	99.0	100.0					2																	71650077		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3433G>C	2.37:g.71650077G>C	ENSP00000386433:p.Glu1145Gln		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E1145Q	ENST00000409544.1	37	c.3433	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771648	0.31320	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.36878	1.24;1.24;1.23	5.54	4.66	0.58398	.	0.000000	0.56097	D	0.000026	T	0.30823	0.0777	L	0.32530	0.975	0.80722	D	1	P;B;B	0.43352	0.804;0.432;0.111	B;B;B	0.43754	0.43;0.411;0.119	T	0.04128	-1.0975	10	0.37606	T	0.19	-14.7594	10.8729	0.46894	0.0873:0.0:0.9127:0.0	.	1145;1145;1145	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	Q	724;1145;1145;85;85	ENSP00000264447:E1145Q;ENSP00000386433:E1145Q;ENSP00000386813:E85Q	ENSP00000264447:E1145Q	E	+	1	0	ZNF638	71503585	1.000000	0.71417	0.989000	0.46669	0.498000	0.33706	3.386000	0.52492	1.481000	0.48307	-0.137000	0.14449	GAG	ZNF638	-	NULL	ENSG00000075292		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	56	0.00	0	G	NM_014497		71650077	71650077	+1	no_errors	ENST00000264447	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	0.992	C
ZNF700	90592	genome.wustl.edu	37	19	12060404	12060404	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:12060404C>T	ENST00000254321.5	+	4	1708	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	ZNF700_ENST00000482090.1_Missense_Mutation_p.S504L|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCTGCCAAGTCATTTCAAACA	0.368																																						dbGAP											0													62.0	65.0	64.0					19																	12060404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1565C>T	19.37:g.12060404C>T	ENSP00000254321:p.Ser522Leu		B9EGU4	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.S522L	ENST00000254321.5	37	c.1565	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	c	2.515	-0.312087	0.05422	.	.	ENSG00000196757	ENST00000254321	T	0.07444	3.19	0.672	-0.938	0.10412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	L	0.31157	0.91	0.09310	N	1	B	0.19935	0.04	B	0.23150	0.044	T	0.44742	-0.9308	9	0.27785	T	0.31	.	0.1343	0.00077	0.2751:0.2668:0.2238:0.2343	.	522	Q9H0M5	ZN700_HUMAN	L	522	ENSP00000254321:S522L	ENSP00000254321:S522L	S	+	2	0	ZNF700	11921404	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.715000	0.01880	-0.348000	0.08286	0.305000	0.20034	TCA	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	50	0.00	0	C	NM_144566		12060404	12060404	+1	no_errors	ENST00000254321	ensembl	human	known	69_37n	missense	36	32.08	17	SNP	0.000	T
ZNF703	80139	genome.wustl.edu	37	8	37553647	37553647	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr8:37553647C>T	ENST00000331569.4	+	1	379	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	50					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GGCTCCCGATCAGGGTCCTGA	0.716																																						dbGAP											0													17.0	16.0	16.0					8																	37553647		2195	4283	6478	-	-	-	SO:0001819	synonymous_variant	0			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.150C>T	8.37:g.37553647C>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.I50	ENST00000331569.4	37	c.150	CCDS6094.1	8																																																																																			ZNF703	-	NULL	ENSG00000183779		0.716	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	15	0.00	0	C	NM_025069		37553647	37553647	+1	no_errors	ENST00000331569	ensembl	human	known	69_37n	silent	4	44.44	4	SNP	0.979	T
ZNF711	7552	genome.wustl.edu	37	X	84520127	84520127	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chrX:84520127G>T	ENST00000373165.3	+	6	1088	c.782G>T	c.(781-783)gGa>gTa	p.G261V	ZNF711_ENST00000276123.3_Missense_Mutation_p.G261V|ZNF711_ENST00000360700.4_Missense_Mutation_p.G261V|ZNF711_ENST00000542798.1_Missense_Mutation_p.G57V|ZNF711_ENST00000395402.1_Missense_Mutation_p.G239V	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	261					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTTTAAGGTGGAACAGAAATT	0.358																																						dbGAP											0													64.0	62.0	63.0					X																	84520127		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.782G>T	X.37:g.84520127G>T	ENSP00000362260:p.Gly261Val		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G239V	ENST00000373165.3	37	c.716	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408511	0.83340	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.12	5.12	0.69794	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.39985	U	0.001214	T	0.69913	0.3164	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.97110	1.0;0.905	T	0.74717	-0.3571	10	0.87932	D	0	-9.8882	17.6722	0.88221	0.0:0.0:1.0:0.0	.	261;261	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	V	239;261;261;261;57	ENSP00000378798:G239V;ENSP00000362260:G261V;ENSP00000276123:G261V;ENSP00000353922:G261V;ENSP00000442071:G57V	ENSP00000276123:G261V	G	+	2	0	ZNF711	84406783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.351000	0.79395	2.101000	0.63845	0.506000	0.49869	GGA	ZNF711	-	pfam_Transcrp_activ_Zfx/Zfy-dom	ENSG00000147180		0.358	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	31	0.00	0	G	NM_021998		84520127	84520127	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
ZNF721	170960	genome.wustl.edu	37	4	438174	438174	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr4:438174C>T	ENST00000338977.5	-	2	94	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E28K|ZNF721_ENST00000506646.1_Missense_Mutation_p.E60K|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AATGAATCTTCTATCCCCTGC	0.338																																						dbGAP											0													47.0	50.0	49.0					4																	438174		2114	4269	6383	-	-	-	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.46G>A	4.37:g.438174C>T	ENSP00000340524:p.Glu16Lys		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E28K	ENST00000338977.5	37	c.82		4	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.293533	0.01375	.	.	ENSG00000182903	ENST00000506646;ENST00000338977;ENST00000511833;ENST00000505900	T;T;T;T	0.04317	5.54;3.65;3.72;6.03	1.03	1.03	0.20045	.	.	.	.	.	T	0.02727	0.0082	N	0.11023	0.085	0.09310	N	1	D;P;P;P	0.54047	0.964;0.618;0.618;0.736	P;B;B;B	0.45138	0.471;0.064;0.064;0.135	T	0.40869	-0.9540	9	0.13470	T	0.59	.	5.2681	0.15611	0.0:1.0:0.0:0.0	.	60;16;28;28	B4E159;Q8TF20;D9N162;Q8TF20-2	.;ZN721_HUMAN;.;.	K	60;16;28;60	ENSP00000423586:E60K;ENSP00000340524:E16K;ENSP00000428878:E28K;ENSP00000421325:E60K	ENSP00000340524:E16K	E	-	1	0	ZNF721	428174	0.024000	0.19004	0.002000	0.10522	0.058000	0.15608	0.450000	0.21762	0.486000	0.27676	0.195000	0.17529	GAA	ZNF721	-	NULL	ENSG00000182903		0.338	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	49	0.00	0	C	NM_133474		438174	438174	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.006	T
ZNF726	730087	genome.wustl.edu	37	19	24116502	24116502	+	Silent	SNP	G	G	A	rs559878873		TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:24116502G>A	ENST00000594466.1	+	4	1689	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	ZNF726_ENST00000334589.5_Intron|ZNF726_ENST00000322487.7_Silent_p.K528K|ZNF726_ENST00000575986.1_Intron|CTB-92J24.3_ENST00000596326.1_RNA	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTAAACATAAGAGGATTCACA	0.363													.|||	1	0.000199681	0.0	0.0	5008	,	,		21841	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.1584G>A	19.37:g.24116502G>A			M0R0X8|Q86Y87	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K528	ENST00000594466.1	37	c.1584	CCDS59372.1	19																																																																																			ZNF726	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213967		0.363	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	15	0.00	0	G	XM_001715134		24116502	24116502	+1	no_errors	ENST00000322487	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	1.000	A
ZNF823	55552	genome.wustl.edu	37	19	11832709	11832709	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:11832709C>T	ENST00000341191.6	-	4	1793	c.1640G>A	c.(1639-1641)aGa>aAa	p.R547K	ZNF823_ENST00000545749.1_Missense_Mutation_p.R365K	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	547					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)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AGTGTGAATTCTTTCATGTCG	0.423										HNSCC(68;0.2)																												dbGAP											0													75.0	76.0	76.0					19																	11832709		2203	4300	6503	-	-	-	SO:0001583	missense	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1640G>A	19.37:g.11832709C>T	ENSP00000340683:p.Arg547Lys		A0PJL4|B7Z8D4|Q6P4A9	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.R547K	ENST00000341191.6	37	c.1640	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	-	13.59	2.283918	0.40394	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.18338	2.22;2.22	0.856	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	N	0.13352	0.335	0.23156	N	0.998209	P	0.52842	0.956	P	0.49829	0.623	T	0.21245	-1.0251	9	0.56958	D	0.05	.	9.2232	0.37390	0.0:1.0:0.0:0.0	.	547	P16415	ZN823_HUMAN	K	365;547	ENSP00000440162:R365K;ENSP00000340683:R547K	ENSP00000340683:R547K	R	-	2	0	ZNF823	11693709	0.000000	0.05858	0.048000	0.18961	0.671000	0.39405	-0.332000	0.07904	0.753000	0.32945	0.305000	0.20034	AGA	ZNF823	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197933		0.423	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	86	0.00	0	C	NM_001080493		11832709	11832709	-1	no_errors	ENST00000341191	ensembl	human	known	69_37n	missense	68	32.00	32	SNP	1.000	T
ZNF85	7639	genome.wustl.edu	37	19	21132571	21132571	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:21132571G>C	ENST00000328178.8	+	4	1364	c.1251G>C	c.(1249-1251)aaG>aaC	p.K417N	ZNF85_ENST00000601023.1_Missense_Mutation_p.K358N|ZNF85_ENST00000345030.6_Missense_Mutation_p.K384N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	417					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTAAACATAAGATAATTCATA	0.313																																						dbGAP											0													24.0	26.0	26.0					19																	21132571		2197	4290	6487	-	-	-	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1251G>C	19.37:g.21132571G>C	ENSP00000329793:p.Lys417Asn		B9ZVP4|Q6NVI0	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.K417N	ENST00000328178.8	37	c.1251	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	5.197	0.221825	0.09863	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.18657	2.2;2.2	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	N	0.17594	0.5	0.54753	D	0.999989	D;D;D	0.65815	0.995;0.991;0.994	D;D;D	0.78314	0.972;0.991;0.911	T	0.19679	-1.0298	9	0.87932	D	0	.	6.6311	0.22857	0.5177:0.0:0.4823:0.0	.	384;358;417	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	N	417;384;292	ENSP00000329793:K417N;ENSP00000342340:K384N	ENSP00000329793:K417N	K	+	3	2	ZNF85	20924411	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.133000	0.10451	-0.841000	0.04200	-0.672000	0.03802	AAG	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.313	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	33	0.00	0	G	NM_003429		21132571	21132571	+1	no_errors	ENST00000328178	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	0.597	C
ZNF836	162962	genome.wustl.edu	37	19	52658629	52658629	+	Silent	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:52658629C>T	ENST00000322146.8	-	5	2828	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	ZNF836_ENST00000597252.1_Silent_p.R769R|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	769					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGAATTCTCCGATGCCTTG	0.443																																						dbGAP											0													79.0	85.0	83.0					19																	52658629		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2307G>A	19.37:g.52658629C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R769	ENST00000322146.8	37	c.2307	CCDS46162.1	19																																																																																			ZNF836	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196267		0.443	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	92	0.00	0	C	NM_001102657		52658629	52658629	-1	no_errors	ENST00000322146	ensembl	human	known	69_37n	silent	61	22.78	18	SNP	0.044	T
ZNF805	390980	genome.wustl.edu	37	19	57765876	57765876	+	Silent	SNP	G	G	C			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:57765876G>C	ENST00000414468.2	+	4	1689	c.1689G>C	c.(1687-1689)ggG>ggC	p.G563G	ZNF805_ENST00000354309.4_Silent_p.G430G|ZNF805_ENST00000535550.1_Silent_p.G430G	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TGCATACTGGGAGAAATCCTA	0.458																																						dbGAP											0													103.0	99.0	101.0					19																	57765876		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1689G>C	19.37:g.57765876G>C			B4DNM5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G563	ENST00000414468.2	37	c.1689	CCDS46207.1	19																																																																																			ZNF805	-	pfscan_Znf_C2H2	ENSG00000204524		0.458	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	73	0.00	0	G	NM_001023563		57765876	57765876	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	silent	55	30.38	24	SNP	0.925	C
ZRANB3	84083	genome.wustl.edu	37	2	135965152	135965152	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr2:135965152C>T	ENST00000264159.6	-	19	2977	c.2861G>A	c.(2860-2862)aGa>aAa	p.R954K	ZRANB3_ENST00000536680.1_Missense_Mutation_p.R952K|ZRANB3_ENST00000401392.1_Missense_Mutation_p.R952K|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	954					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TACTTTGGCTCTCAGGTAACT	0.423																																						dbGAP											0													207.0	196.0	200.0					2																	135965152		1930	4130	6060	-	-	-	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2861G>A	2.37:g.135965152C>T	ENSP00000264159:p.Arg954Lys		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R954K	ENST00000264159.6	37	c.2861	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.741237	0.96873	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.98221	-4.79;-4.8;-4.76	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	M	0.85542	2.76	0.46823	D	0.999216	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99723	1.1010	10	0.87932	D	0	-3.94	20.0782	0.97758	0.0:1.0:0.0:0.0	.	954;952	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	K	417;417;952;954;952	ENSP00000383979:R952K;ENSP00000264159:R954K;ENSP00000441320:R952K	ENSP00000264159:R954K	R	-	2	0	ZRANB3	135681622	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.959000	0.76031	2.746000	0.94184	0.655000	0.94253	AGA	ZRANB3	-	NULL	ENSG00000121988		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	85	0.00	0	C	NM_032143		135965152	135965152	-1	no_errors	ENST00000264159	ensembl	human	known	69_37n	missense	71	25.26	24	SNP	1.000	T
ZSCAN10	84891	genome.wustl.edu	37	16	3140465	3140465	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr16:3140465G>A	ENST00000252463.2	-	5	892	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.L187F|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	269					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTGCTGCCAAGAAGGGACCCA	0.647																																						dbGAP											0													73.0	77.0	76.0					16																	3140465		2192	4288	6480	-	-	-	SO:0001583	missense	0			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.805C>T	16.37:g.3140465G>A	ENSP00000252463:p.Leu269Phe		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L269F	ENST00000252463.2	37	c.805	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047545	0.19827	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.06849	3.25	4.88	-2.96	0.05547	.	1.917300	0.02611	N	0.102103	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P;B	0.39964	0.697;0.171	B;B	0.35353	0.201;0.044	T	0.28038	-1.0056	10	0.05721	T	0.95	0.4153	2.5852	0.04829	0.1898:0.4156:0.2614:0.1333	.	202;269	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	F	202;269	ENSP00000252463:L269F	ENSP00000252463:L269F	L	-	1	0	ZSCAN10	3080466	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.106000	0.15354	-0.528000	0.06366	0.563000	0.77884	CTT	ZSCAN10	-	NULL	ENSG00000130182		0.647	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	30	0.00	0	G	NM_032805		3140465	3140465	-1	no_errors	ENST00000252463	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.000	A
ZSCAN5A	79149	genome.wustl.edu	37	19	56733492	56733492	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr19:56733492C>T	ENST00000587340.1	-	7	1638	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTGTGGCTTCTCCTTGAGGC	0.557																																						dbGAP											0													76.0	81.0	79.0					19																	56733492		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.943G>A	19.37:g.56733492C>T	ENSP00000467631:p.Glu315Lys		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E315K	ENST00000587340.1	37	c.943	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324739	0.24080	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06294	3.34;3.32	2.27	0.0574	0.14323	.	.	.	.	.	T	0.05456	0.0144	L	0.36672	1.1	0.09310	N	1	B;B	0.23735	0.09;0.026	B;B	0.23419	0.046;0.02	T	0.39522	-0.9610	9	0.39692	T	0.17	.	6.357	0.21406	0.0:0.7196:0.0:0.2804	.	198;315	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	K	315;198	ENSP00000375593:E315K;ENSP00000254165:E198K	ENSP00000254165:E198K	E	-	1	0	ZSCAN5A	61425304	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.126000	0.10563	0.089000	0.17243	0.561000	0.74099	GAA	ZSCAN5A	-	NULL	ENSG00000131848		0.557	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	128	0.78	1	C	NM_024303		56733492	56733492	-1	no_errors	ENST00000391713	ensembl	human	known	69_37n	missense	86	16.50	17	SNP	0.006	T
ZSWIM6	57688	genome.wustl.edu	37	5	60827328	60827328	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr5:60827328A>G	ENST00000252744.5	+	9	2021	c.2021A>G	c.(2020-2022)cAt>cGt	p.H674R		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	674					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GAATACCAGCATCTACCTGCA	0.438																																						dbGAP											0													75.0	61.0	65.0					5																	60827328		692	1591	2283	-	-	-	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.2021A>G	5.37:g.60827328A>G	ENSP00000252744:p.His674Arg			Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.H674R	ENST00000252744.5	37	c.2021	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565357	0.45694	.	.	ENSG00000130449	ENST00000252744	T	0.50813	0.73	6.17	5.02	0.67125	.	0.225856	0.46145	D	0.000317	T	0.50257	0.1605	M	0.75615	2.305	0.29377	N	0.863576	B	0.14012	0.009	B	0.22880	0.042	T	0.53585	-0.8418	10	0.62326	D	0.03	-4.8799	12.3678	0.55238	0.9348:0.0:0.0652:0.0	.	674	Q9HCJ5	ZSWM6_HUMAN	R	674	ENSP00000252744:H674R	ENSP00000252744:H674R	H	+	2	0	ZSWIM6	60863085	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.747000	0.62141	1.159000	0.42565	0.533000	0.62120	CAT	ZSWIM6	-	NULL	ENSG00000130449		0.438	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	59	0.00	0	A	NM_020928		60827328	60827328	+1	no_errors	ENST00000252744	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	1.000	G
ZZEF1	23140	genome.wustl.edu	37	17	4005621	4005621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A27G-01A-11D-A16D-09	TCGA-D8-A27G-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c8bc172c-0986-481e-a4ce-54fa55db4871	4e47a193-cf64-45ab-afb0-0167661972a2	g.chr17:4005621C>T	ENST00000381638.2	-	9	1786	c.1662G>A	c.(1660-1662)tgG>tgA	p.W554*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	554							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATCCCTTGTCCACGGTTCAA	0.478																																						dbGAP											0													198.0	149.0	165.0					17																	4005621		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1662G>A	17.37:g.4005621C>T	ENSP00000371051:p.Trp554*		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.W554*	ENST00000381638.2	37	c.1662	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.667715	0.96745	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.71	5.71	0.89125	.	0.282665	0.39759	N	0.001280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.289	19.8677	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	554	.	ENSP00000371051:W554X	W	-	3	0	ZZEF1	3952370	1.000000	0.71417	0.999000	0.59377	0.368000	0.29767	2.204000	0.42761	2.709000	0.92574	0.655000	0.94253	TGG	ZZEF1	-	NULL	ENSG00000074755		0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	45	0.00	0	C	NM_015113		4005621	4005621	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	nonsense	34	31.37	16	SNP	1.000	T
