#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
ACSS3	79611	genome.wustl.edu	37	12	81568688	81568688	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr12:81568688C>T	ENST00000548058.1	+	8	2130	c.1220C>T	c.(1219-1221)gCa>gTa	p.A407V	ACSS3_ENST00000261206.3_Missense_Mutation_p.A406V|ACSS3_ENST00000548324.1_Missense_Mutation_p.A89V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	407						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.G406fs*19(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACCCTGGGGCAGCTTTGGGG	0.468																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											109.0	92.0	98.0					12																	81568688		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1220C>T	12.37:g.81568688C>T	ENSP00000449535:p.Ala407Val		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.A407V	ENST00000548058.1	37	c.1220	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.562596	0.96527	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.29397	1.57;1.57;1.6	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.096845	0.64402	D	0.000001	T	0.36608	0.0973	N	0.12831	0.26	0.80722	D	1	B;D	0.56968	0.063;0.978	B;P	0.58077	0.067;0.832	T	0.35871	-0.9771	10	0.72032	D	0.01	-25.2208	20.126	0.97982	0.0:1.0:0.0:0.0	.	89;407	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	V	407;406;89	ENSP00000449535:A407V;ENSP00000261206:A406V;ENSP00000448965:A89V	ENSP00000261206:A406V	A	+	2	0	ACSS3	80092819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.166000	0.77553	2.749000	0.94314	0.655000	0.94253	GCA	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.468	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	35	0.00	0	C	NM_024560		81568688	81568688	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	1.000	T
ALG5	29880	genome.wustl.edu	37	13	37569615	37569615	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr13:37569615G>A	ENST00000239891.3	-	2	251	c.185C>T	c.(184-186)tCa>tTa	p.S62L	ALG5_ENST00000443765.1_Missense_Mutation_p.S62L|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.S62L	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	62					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTTGGTAGGTGAGTCCCATAT	0.393																																						dbGAP											0													117.0	113.0	115.0					13																	37569615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.185C>T	13.37:g.37569615G>A	ENSP00000239891:p.Ser62Leu		B4DR37|Q5TBA6	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.S62L	ENST00000239891.3	37	c.185	CCDS9361.1	13	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137182	0.37728	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	T;T;T	0.60040	0.22;0.22;0.22	6.17	5.33	0.75918	.	0.274613	0.41712	N	0.000829	T	0.55114	0.1900	L	0.53249	1.67	0.26424	N	0.976042	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.49293	-0.8955	10	0.49607	T	0.09	-11.508	15.227	0.73359	0.1273:0.0:0.8727:0.0	.	62;62	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	L	62	ENSP00000390533:S62L;ENSP00000239891:S62L;ENSP00000389647:S62L	ENSP00000239891:S62L	S	-	2	0	ALG5	36467615	0.998000	0.40836	0.922000	0.36590	0.983000	0.72400	2.565000	0.45939	0.953000	0.37825	-0.797000	0.03246	TCA	ALG5	-	NULL	ENSG00000120697		0.393	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2	73	0.00	0	G	NM_013338		37569615	37569615	-1	no_errors	ENST00000239891	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	0.960	A
AMPH	273	genome.wustl.edu	37	7	38424484	38424484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr7:38424484G>A	ENST00000356264.2	-	21	2238	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	AMPH_ENST00000325590.5_Nonsense_Mutation_p.Q633*|AMPH_ENST00000428293.2_Nonsense_Mutation_p.Q633*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	675	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCTCTGTACTGAAGCCAGTCT	0.498																																						dbGAP											0													118.0	111.0	114.0					7																	38424484		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.2023C>T	7.37:g.38424484G>A	ENSP00000348602:p.Gln675*		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.Q675*	ENST00000356264.2	37	c.2023	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.673764|6.673764	0.97751|0.97751	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.186924|.	0.47455|.	D|.	0.000231|.	.|T	.|0.76528	.|0.4000	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74250	.|-0.3726	.|4	0.66056|.	D|.	0.02|.	-25.0577|-25.0577	19.9249|19.9249	0.97099|0.97099	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	633;675;633;577|557	.|.	ENSP00000317441:Q633X|.	Q|S	-|-	1|2	0|0	AMPH|AMPH	38391009|38391009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	4.313000|4.313000	0.59160|0.59160	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	CAG|TCA	AMPH	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin_1	ENSG00000078053		0.498	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	39	0.00	0	G	NM_001635		38424484	38424484	-1	no_errors	ENST00000356264	ensembl	human	known	69_37n	nonsense	34	19.05	8	SNP	1.000	A
BPNT1	10380	genome.wustl.edu	37	1	220233117	220233117	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:220233117T>C	ENST00000469520.2	-	9	1138	c.689A>G	c.(688-690)gAa>gGa	p.E230G	BPNT1_ENST00000544404.1_Missense_Mutation_p.E175G|BPNT1_ENST00000354807.3_Missense_Mutation_p.E245G|BPNT1_ENST00000322067.7_Missense_Mutation_p.E230G|BPNT1_ENST00000414869.2_Missense_Mutation_p.E194G			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	230					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GGCTTTGCCTTCAATCAGCTG	0.348																																						dbGAP											0													150.0	143.0	145.0					1																	220233117		1812	4075	5887	-	-	-	SO:0001583	missense	0			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.689A>G	1.37:g.220233117T>C	ENSP00000446828:p.Glu230Gly		A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.E230G	ENST00000469520.2	37	c.689	CCDS41469.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799361	0.90538	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	M	0.91612	3.225	0.80722	D	1	D;P;D	0.89917	1.0;0.636;1.0	D;B;D	0.83275	0.995;0.237;0.996	D	0.83952	0.0317	10	0.87932	D	0	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	194;245;230	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	G	230;230;245;230;175;194	ENSP00000318852:E230G;ENSP00000446828:E230G;ENSP00000346862:E245G;ENSP00000444398:E175G;ENSP00000410348:E194G	ENSP00000307087:E230G	E	-	2	0	BPNT1	218299740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.948000	0.87774	2.254000	0.74563	0.460000	0.39030	GAA	BPNT1	-	pfam_Inositol_monophosphatase	ENSG00000162813		0.348	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPNT1	HGNC	protein_coding	OTTHUMT00000091137.2	39	0.00	0	T	NM_006085		220233117	220233117	-1	no_errors	ENST00000322067	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	1.000	C
C1orf101	257044	genome.wustl.edu	37	1	244724054	244724054	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:244724054G>A	ENST00000366534.4	+	10	1168	c.1114G>A	c.(1114-1116)Gta>Ata	p.V372I	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.V372I|C1orf101_ENST00000366531.3_Missense_Mutation_p.V221I	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	372						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-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(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGCCAGATTAGTAACTACCAC	0.418																																						dbGAP											0													98.0	100.0	99.0					1																	244724054		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1114G>A	1.37:g.244724054G>A	ENSP00000355492:p.Val372Ile		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.V372I	ENST00000366534.4	37	c.1114	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849189	0.02651	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.97	-6.99	0.01605	.	1.185270	0.06015	N	0.650237	T	0.08179	0.0204	N	0.11106	0.095	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.44605	-0.9317	10	0.02654	T	1	.	10.5383	0.45018	0.317:0.1194:0.5636:0.0	.	292;372;372	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	I	372;372;372;292;221	ENSP00000355492:V372I;ENSP00000355491:V372I;ENSP00000395796:V292I;ENSP00000355489:V221I	ENSP00000355489:V221I	V	+	1	0	C1orf101	242790677	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.685000	0.05167	-1.386000	0.02098	-1.656000	0.00753	GTA	C1orf101	-	NULL	ENSG00000179397		0.418	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	60	0.00	0	G	NM_173807		244724054	244724054	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	107	15.62	20	SNP	0.000	A
PQLC2L	152078	genome.wustl.edu	37	3	157261177	157261177	+	5'Flank	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr3:157261177C>T	ENST00000449199.2	+	0	0				C3orf55_ENST00000312275.5_5'UTR|C3orf55_ENST00000461040.1_5'Flank|C3orf55_ENST00000468043.1_5'UTR|C3orf55_ENST00000459838.1_5'UTR|C3orf55_ENST00000426338.2_5'Flank|C3orf55_ENST00000498159.1_3'UTR	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			TCCCTGATCTCTCGGAGGCGC	0.667																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0																															3.37:g.157261177C>T	Exception_encountered		C9JP04|C9JXB5|Q8N6Q6	RNA	SNP	-	NULL	ENST00000449199.2	37	NULL	CCDS46943.1	3																																																																																			C3orf55	-	-	ENSG00000174899		0.667	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	HGNC	protein_coding	OTTHUMT00000352018.1	25	0.00	0	C			157261177	157261177	+1	no_errors	ENST00000498159	ensembl	human	putative	69_37n	rna	30	25.00	10	SNP	0.000	T
CAMK4	814	genome.wustl.edu	37	5	110820109	110820109	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr5:110820109G>T	ENST00000282356.4	+	11	1765	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.S456I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	456					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGGCAAGGAAGCTCTGCTGTG	0.517																																						dbGAP											0													50.0	50.0	50.0					5																	110820109		2202	4300	6502	-	-	-	SO:0001583	missense	0			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1367G>T	5.37:g.110820109G>T	ENSP00000282356:p.Ser456Ile		D3DSZ7	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.S456I	ENST00000282356.4	37	c.1367	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305745	0.23736	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.67345	-0.26;-0.26	4.83	-3.7	0.04437	.	1.205720	0.06306	N	0.701789	T	0.39600	0.1084	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	10	0.62326	D	0.03	.	2.1054	0.03689	0.1974:0.3035:0.3585:0.1406	.	456	Q16566	KCC4_HUMAN	I	456	ENSP00000422634:S456I;ENSP00000282356:S456I	ENSP00000282356:S456I	S	+	2	0	CAMK4	110848008	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.542000	0.06091	-0.470000	0.06901	-0.482000	0.04802	AGC	CAMK4	-	NULL	ENSG00000152495		0.517	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	38	0.00	0	G	NM_001744		110820109	110820109	+1	no_errors	ENST00000282356	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.000	T
CARD14	79092	genome.wustl.edu	37	17	78178979	78178979	+	Silent	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:78178979C>T	ENST00000573882.1	+	20	3080	c.2544C>T	c.(2542-2544)ctC>ctT	p.L848L	RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA|CARD14_ENST00000344227.2_Silent_p.L848L|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	848	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTGCCTCCTCCAAGGGTTTA	0.642																																						dbGAP											0													93.0	86.0	88.0					17																	78178979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2544C>T	17.37:g.78178979C>T			B8QQJ3|Q9BVB5	Silent	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.L848	ENST00000573882.1	37	c.2544	CCDS11768.1	17																																																																																			CARD14	-	NULL	ENSG00000141527		0.642	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	51	0.00	0	C			78178979	78178979	+1	no_errors	ENST00000344227	ensembl	human	known	69_37n	silent	53	32.05	25	SNP	0.528	T
CATSPERG	57828	genome.wustl.edu	37	19	38858703	38858703	+	Missense_Mutation	SNP	C	C	G	rs147054256	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr19:38858703C>G	ENST00000409235.3	+	26	3061	c.2946C>G	c.(2944-2946)atC>atG	p.I982M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.I942M|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	982					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGCCTTATCTGGACCACGA	0.612																																						dbGAP											0													258.0	206.0	223.0					19																	38858703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2946C>G	19.37:g.38858703C>G	ENSP00000386962:p.Ile982Met		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.I982M	ENST00000409235.3	37	c.2946	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180991	0.38511	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34472	1.38;1.36	3.35	1.16	0.20824	.	0.000000	0.36519	U	0.002550	T	0.41282	0.1152	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	T	0.29882	-0.9997	10	0.62326	D	0.03	-22.6957	3.9112	0.09204	0.2358:0.637:0.0:0.1272	.	982;942	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	942;982;982	ENSP00000387057:I942M;ENSP00000386962:I982M	ENSP00000386962:I982M	I	+	3	3	CATSPERG	43550543	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	0.619000	0.24388	0.390000	0.25115	-0.302000	0.09304	ATC	CATSPERG	-	NULL	ENSG00000099338		0.612	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	26	0.00	0	C	NM_021185		38858703	38858703	+1	no_errors	ENST00000409235	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	G
CD300LG	146894	genome.wustl.edu	37	17	41939191	41939191	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:41939191C>G	ENST00000317310.4	+	7	952	c.911C>G	c.(910-912)tCc>tGc	p.S304C		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	304					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAAGCCCCTTCCCAGGCCCCT	0.612																																						dbGAP											0													43.0	41.0	42.0					17																	41939191		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.911C>G	17.37:g.41939191C>G	ENSP00000321005:p.Ser304Cys		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S304C	ENST00000317310.4	37	c.911	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974922	0.34848	.	.	ENSG00000161649	ENST00000317310	T	0.07216	3.21	3.96	0.613	0.17597	.	0.947648	0.08700	N	0.906573	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	P	0.50231	0.635	T	0.35001	-0.9806	10	0.44086	T	0.13	.	5.0681	0.14592	0.0:0.6004:0.2353:0.1643	.	304	Q6UXG3	CLM9_HUMAN	C	304	ENSP00000321005:S304C	ENSP00000321005:S304C	S	+	2	0	CD300LG	39294717	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	-0.459000	0.06728	0.141000	0.18875	0.655000	0.94253	TCC	CD300LG	-	NULL	ENSG00000161649		0.612	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	29	0.00	0	C	NM_145273		41939191	41939191	+1	no_errors	ENST00000317310	ensembl	human	known	69_37n	missense	25	29.73	11	SNP	0.004	G
CD53	963	genome.wustl.edu	37	1	111441958	111441958	+	3'UTR	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:111441958G>A	ENST00000271324.5	+	0	913				CD53_ENST00000429072.2_3'UTR|CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule						positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TATACAACCAGAGAAGTGGGT	0.473																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.*141G>A	1.37:g.111441958G>A			B2R905|Q5U0D6	RNA	SNP	-	NULL	ENST00000271324.5	37	NULL	CCDS829.1	1																																																																																			CD53	-	-	ENSG00000143119		0.473	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD53	HGNC	protein_coding	OTTHUMT00000032931.1	18	0.00	0	G	NM_000560		111441958	111441958	+1	no_errors	ENST00000476408	ensembl	human	known	69_37n	rna	17	19.05	4	SNP	0.004	A
CDH13	1012	genome.wustl.edu	37	16	83214480	83214480	+	Intron	SNP	C	C	A	rs7188594	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr16:83214480C>A	ENST00000566620.1	+	5	773				CDH13_ENST00000428848.3_Intron|CDH13_ENST00000268613.10_Intron|CDH13_ENST00000431540.3_Silent_p.T163T|CDH13_ENST00000565636.1_3'UTR|CDH13_ENST00000569454.1_Intron	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13						adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TACAGAGAACCCACAATCCTA	0.328													A|||	2254	0.45008	0.8343	0.2565	5008	,	,		19713	0.2708		0.3777	False		,,,				2504	0.3272					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.484-36470C>A	16.37:g.83214480C>A			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	p.T163	ENST00000566620.1	37	c.489	CCDS58486.1	16																																																																																			CDH13	-	NULL	ENSG00000140945		0.328	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	32	0.00	0	C	NM_001257		83214480	83214480	+1	no_errors	ENST00000431540	ensembl	human	putative	69_37n	silent	14	30.00	6	SNP	0.685	A
CDS2	8760	genome.wustl.edu	37	20	5155847	5155847	+	Silent	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr20:5155847G>T	ENST00000460006.1	+	3	520	c.213G>T	c.(211-213)gtG>gtT	p.V71V	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	71					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ACTGGTGGGTGAGAGGCATCC	0.433																																						dbGAP											0													328.0	291.0	303.0					20																	5155847		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.213G>T	20.37:g.5155847G>T			B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Silent	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.V71	ENST00000460006.1	37	c.213	CCDS13088.1	20																																																																																			CDS2	-	pfam_PC_trans,pirsf_PC_Trfase_euk	ENSG00000101290		0.433	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2	59	0.00	0	G			5155847	5155847	+1	no_errors	ENST00000460006	ensembl	human	known	69_37n	silent	58	14.71	10	SNP	0.998	T
CDK5RAP1	51654	genome.wustl.edu	37	20	31946930	31946930	+	Splice_Site	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr20:31946930C>T	ENST00000357886.4	-	15	1879		c.e15-1		CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGAGGTGATCTGAAAGAAAA	0.502																																						dbGAP											0													99.0	91.0	94.0					20																	31946930		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1726-1G>A	20.37:g.31946930C>T			A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Splice_Site	SNP	-	e14-1	ENST00000357886.4	37	c.1726-1		20	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473001	0.43942	.	.	ENSG00000101391	ENST00000427097;ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6285	0.84993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP1	31410591	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	4.977000	0.63792	2.854000	0.98071	0.655000	0.94253	.	CDK5RAP1	-	-	ENSG00000101391		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	26	0.00	0	C	NM_016408	Intron	31946930	31946930	-1	no_errors	ENST00000357886	ensembl	human	known	69_37n	splice_site	15	25.00	5	SNP	1.000	T
CHTF18	63922	genome.wustl.edu	37	16	842805	842805	+	Silent	SNP	C	C	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr16:842805C>G	ENST00000262315.9	+	12	1629	c.1566C>G	c.(1564-1566)ctC>ctG	p.L522L	CHTF18_ENST00000317063.6_Silent_p.L717L|CHTF18_ENST00000455171.2_Silent_p.L550L	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	522					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGCAGCGGCTCCAGGAGGTCG	0.701																																						dbGAP											0													3.0	4.0	4.0					16																	842805		1796	3801	5597	-	-	-	SO:0001819	synonymous_variant	0			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1566C>G	16.37:g.842805C>G			B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.L717	ENST00000262315.9	37	c.2151	CCDS45371.1	16																																																																																			CHTF18	-	smart_AAA+_ATPase	ENSG00000127586		0.701	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	41	0.00	0	C	NM_022092		842805	842805	+1	no_errors	ENST00000317063	ensembl	human	known	69_37n	silent	47	14.55	8	SNP	0.080	G
CNOT3	4849	genome.wustl.edu	37	19	54656056	54656056	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr19:54656056G>A	ENST00000406403.1	+	13	3302	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	CNOT3_ENST00000358389.3_Missense_Mutation_p.E386K|CNOT3_ENST00000221232.5_Missense_Mutation_p.E567K|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	567	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCACCTGACCGAGCGAGGTGA	0.672																																						dbGAP											0													61.0	60.0	61.0					19																	54656056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1699G>A	19.37:g.54656056G>A	ENSP00000383954:p.Glu567Lys		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E567K	ENST00000406403.1	37	c.1699	CCDS12880.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.498463|3.498463	0.64298|0.64298	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000457463	T;T|.	0.45668|.	0.89;0.89|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.795271|.	0.11059|.	N|.	0.604170|.	T|T	0.58104|0.58104	0.2099|0.2099	L|L	0.36672|0.36672	1.1|1.1	0.47065|0.47065	D|D	0.999306|0.999306	B;B;P;B|.	0.47545|.	0.338;0.165;0.897;0.338|.	B;B;B;B|.	0.29663|.	0.06;0.038;0.105;0.06|.	T|T	0.55471|0.55471	-0.8136|-0.8136	10|5	0.07325|.	T|.	0.83|.	-11.4416|-11.4416	15.9687|15.9687	0.79995|0.79995	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	567;386;567;491|.	B7Z6J7;O75175-3;O75175;Q6ZMJ6|.	.;.;CNOT3_HUMAN;.|.	K|Q	567;386;567|98	ENSP00000221232:E567K;ENSP00000383954:E567K|.	ENSP00000221232:E567K|.	E|R	+|+	1|2	0|0	CNOT3|CNOT3	59347868|59347868	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.968000|0.968000	0.65278|0.65278	8.753000|8.753000	0.91637|0.91637	2.115000|2.115000	0.64714|0.64714	0.655000|0.655000	0.94253|0.94253	GAG|CGA	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.672	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	69	0.00	0	G	NM_014516		54656056	54656056	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.996	A
CPED1	79974	genome.wustl.edu	37	7	120691313	120691313	+	Intron	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr7:120691313C>T	ENST00000310396.5	+	4	1007				CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Intron	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)											TTGTACAATCCAGAGGAATAT	0.388																																						dbGAP											0																																										-	-	-	SO:0001627	intron_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.540+4266C>T	7.37:g.120691313C>T			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	RNA	SNP	-	NULL	ENST00000310396.5	37	NULL	CCDS34739.1	7																																																																																			CPED1	-	-	ENSG00000106034		0.388	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	30	0.00	0	C	NM_024913		120691313	120691313	+1	no_errors	ENST00000495036	ensembl	human	known	69_37n	rna	33	13.16	5	SNP	1.000	T
CTSW	1521	genome.wustl.edu	37	11	65650290	65650290	+	Silent	SNP	A	A	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr11:65650290A>G	ENST00000307886.3	+	7	706	c.660A>G	c.(658-660)aaA>aaG	p.K220K	CTSW_ENST00000528419.1_Silent_p.K220K	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	220					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		TCCAGGGCAAAGTCAGAGCCC	0.607																																						dbGAP											0													95.0	85.0	88.0					11																	65650290		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.660A>G	11.37:g.65650290A>G			Q86VT4	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.K220	ENST00000307886.3	37	c.660	CCDS8117.1	11																																																																																			CTSW	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000172543		0.607	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSW	HGNC	protein_coding	OTTHUMT00000391042.1	28	0.00	0	A	NM_001335		65650290	65650290	+1	no_errors	ENST00000307886	ensembl	human	known	69_37n	silent	36	12.20	5	SNP	0.000	G
CWC25	54883	genome.wustl.edu	37	17	36971290	36971290	+	Silent	SNP	G	G	A	rs202146970		TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:36971290G>A	ENST00000225428.5	-	3	549	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CWC25_ENST00000536127.1_Silent_p.D21D	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	84										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GCAGGTACTCGTCACGGTTCA	0.463																																						dbGAP											0													134.0	135.0	135.0					17																	36971290		1907	4114	6021	-	-	-	SO:0001819	synonymous_variant	0			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.252C>T	17.37:g.36971290G>A			A0JLM3|Q68DK5	Silent	SNP	pfam_CWC25,pfam_CIR_N_dom	p.D84	ENST00000225428.5	37	c.252	CCDS45663.1	17																																																																																			CWC25	-	pfam_CWC25	ENSG00000108296		0.463	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	32	0.00	0	G	NM_017748		36971290	36971290	-1	no_errors	ENST00000225428	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	0.974	A
DDX58	23586	genome.wustl.edu	37	9	32466374	32466374	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr9:32466374C>T	ENST00000379883.2	-	16	2408	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	DDX58_ENST00000542096.1_Missense_Mutation_p.E680K|DDX58_ENST00000379868.1_Missense_Mutation_p.E548K|DDX58_ENST00000379882.1_Missense_Mutation_p.E706K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	751	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTTATTTGTTCTTTTTCAATT	0.348																																						dbGAP											0													165.0	157.0	160.0					9																	32466374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2251G>A	9.37:g.32466374C>T	ENSP00000369213:p.Glu751Lys		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E751K	ENST00000379883.2	37	c.2251	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362759	0.82353	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.45	5.45	0.79879	Helicase, C-terminal (1);	0.070422	0.64402	N	0.000020	T	0.62708	0.2450	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.58696	-0.7591	10	0.30078	T	0.28	-25.2063	13.9972	0.64409	0.1519:0.848:0.0:0.0	.	706;680;751	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	K	706;751;548;680	ENSP00000369212:E706K;ENSP00000369213:E751K;ENSP00000369197:E548K;ENSP00000442160:E680K	ENSP00000369197:E548K	E	-	1	0	DDX58	32456374	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	3.926000	0.56491	2.725000	0.93324	0.655000	0.94253	GAA	DDX58	-	pfscan_Helicase_C	ENSG00000107201		0.348	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	139	0.00	0	C	NM_014314		32466374	32466374	-1	no_errors	ENST00000379883	ensembl	human	known	69_37n	missense	101	13.68	16	SNP	1.000	T
DNAJC30	84277	genome.wustl.edu	37	7	73097257	73097257	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr7:73097257G>T	ENST00000395176.2	-	1	526	c.497C>A	c.(496-498)gCc>gAc	p.A166D	WBSCR22_ENST00000423497.1_5'Flank|WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	166						mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						CTGGTAGAAGGCGTCAAAGTT	0.692																																						dbGAP											0													28.0	29.0	29.0					7																	73097257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.497C>A	7.37:g.73097257G>T	ENSP00000378605:p.Ala166Asp		Q9BSG8	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.A166D	ENST00000395176.2	37	c.497	CCDS5556.1	7	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897177	0.91962	.	.	ENSG00000176410	ENST00000395176	T	0.55234	0.53	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.54111	0.1838	M	0.78637	2.42	0.42008	D	0.990921	P	0.44734	0.842	B	0.42771	0.397	T	0.54241	-0.8323	10	0.26408	T	0.33	.	11.1934	0.48698	0.0:0.0:0.8169:0.1831	.	166	Q96LL9	DJC30_HUMAN	D	166	ENSP00000378605:A166D	ENSP00000378605:A166D	A	-	2	0	DNAJC30	72735193	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.938000	0.56583	2.708000	0.92522	0.555000	0.69702	GCC	DNAJC30	-	NULL	ENSG00000176410		0.692	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC30	HGNC	protein_coding	OTTHUMT00000252304.2	22	0.00	0	G			73097257	73097257	-1	no_errors	ENST00000395176	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	1.000	T
DNM2	1785	genome.wustl.edu	37	19	10908144	10908144	+	Intron	SNP	G	G	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr19:10908144G>C	ENST00000355667.6	+	11	1415				DNM2_ENST00000359692.6_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.D429H|DNM2_ENST00000408974.4_Missense_Mutation_p.D429H|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000314646.5_Missense_Mutation_p.D429H	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGTGTGTTGATCTCGTGGT	0.512			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													121.0	106.0	111.0					19																	10908144		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1336-1018G>C	19.37:g.10908144G>C			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.D429H	ENST00000355667.6	37	c.1285	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764896	0.90020	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000389253;ENST00000314646	T;T;T	0.74002	-0.8;-0.8;-0.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.995;1.0	D	0.90107	0.4189	10	0.87932	D	0	-15.596	18.0235	0.89262	0.0:0.0:1.0:0.0	.	162;429;429	B4DJ53;A8K1B6;E9PEQ4	.;.;.	H	418;429;429;429	ENSP00000386192:D429H;ENSP00000373905:D429H;ENSP00000313164:D429H	ENSP00000313164:D429H	D	+	1	0	DNM2	10769144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.557000	0.86248	0.655000	0.94253	GAT	DNM2	-	pfam_Dynamin_central	ENSG00000079805		0.512	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	59	0.00	0	G	NM_004945		10908144	10908144	+1	no_errors	ENST00000314646	ensembl	human	known	69_37n	missense	46	14.55	8	SNP	1.000	C
DOCK4	9732	genome.wustl.edu	37	7	111379194	111379194	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr7:111379194G>A	ENST00000437633.1	-	48	5457	c.5201C>T	c.(5200-5202)tCg>tTg	p.S1734L	DOCK4_ENST00000428084.1_Missense_Mutation_p.S1743L|DOCK4_ENST00000494651.2_Missense_Mutation_p.S617L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1734	Ser-rich.				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)				GAGTACCTGCGAAGGCTCCAC	0.473																																						dbGAP											0													155.0	153.0	153.0					7																	111379194		1933	4137	6070	-	-	-	SO:0001583	missense	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.5201C>T	7.37:g.111379194G>A	ENSP00000404179:p.Ser1734Leu		O14584|O94824|Q8NB45	Missense_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.S1743L	ENST00000437633.1	37	c.5228	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.126824|3.126824	0.56721|0.56721	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.24350	.|1.86;1.86;1.86	5.95|5.95	4.03|4.03	0.46877|0.46877	.|.	.|0.288476	.|0.40302	.|N	.|0.001129	T|T	0.16514|0.16514	0.0397|0.0397	N|N	0.22421|0.22421	0.69|0.69	0.42940|0.42940	D|D	0.994343|0.994343	.|B;B;P;P;P;P	.|0.39601	.|0.398;0.335;0.552;0.552;0.68;0.68	.|B;B;B;B;B;B	.|0.30495	.|0.024;0.039;0.038;0.026;0.058;0.116	T|T	0.05468|0.05468	-1.0883|-1.0883	5|10	.|0.40728	.|T	.|0.16	.|.	16.2942|16.2942	0.82762|0.82762	0.0:0.2496:0.7504:0.0|0.0:0.2496:0.7504:0.0	.|.	.|641;617;1779;1734;1743;47	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.|.;.;.;DOCK4_HUMAN;.;.	C|L	1195;1767|1722;1743;617;1734;1731	.|ENSP00000410746:S1743L;ENSP00000440944:S617L;ENSP00000404179:S1734L	.|ENSP00000345432:S1731L	R|S	-|-	1|2	0|0	DOCK4|DOCK4	111166430|111166430	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.931000|0.931000	0.56810|0.56810	5.088000|5.088000	0.64486|0.64486	1.501000|1.501000	0.48654|0.48654	0.655000|0.655000	0.94253|0.94253	CGC|TCG	DOCK4	-	NULL	ENSG00000128512		0.473	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	73	0.00	0	G	NM_014705		111379194	111379194	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	0.994	A
DOCK7	85440	genome.wustl.edu	37	1	63090858	63090858	+	Intron	SNP	C	C	T	rs6587980	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:63090858C>T	ENST00000340370.5	-	12	1443				DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						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						ATAGTACAATCACTACCTTTC	0.289													T|||	2055	0.410343	0.6044	0.379	5008	,	,		14685	0.2321		0.3052	False		,,,				2504	0.4622					dbGAP											0																																										-	-	-	SO:0001627	intron_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.1425+71G>A	1.37:g.63090858C>T			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	RNA	SNP	-	NULL	ENST00000340370.5	37	NULL	CCDS30734.1	1																																																																																			DOCK7	-	-	ENSG00000116641		0.289	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	29	0.00	0	C	NM_033407		63090858	63090858	-1	no_errors	ENST00000464312	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.000	T
DYTN	391475	genome.wustl.edu	37	2	207575268	207575268	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr2:207575268G>A	ENST00000452335.2	-	2	190	c.74C>T	c.(73-75)tCa>tTa	p.S25L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	25						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGTTTGCACTGATTGTAATTT	0.313																																						dbGAP											0													81.0	77.0	78.0					2																	207575268		1835	4079	5914	-	-	-	SO:0001583	missense	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.74C>T	2.37:g.207575268G>A	ENSP00000396593:p.Ser25Leu			Missense_Mutation	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.S25L	ENST00000452335.2	37	c.74	CCDS46502.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290693	0.80914	.	.	ENSG00000232125	ENST00000452335	T	0.62498	0.02	4.49	4.49	0.54785	EF-hand domain, type 1 (1);	.	.	.	.	T	0.63581	0.2523	L	0.29908	0.895	0.37812	D	0.928064	D	0.63880	0.993	P	0.60789	0.879	T	0.57106	-0.7868	9	0.11794	T	0.64	-5.8442	16.2139	0.82191	0.0:0.0:1.0:0.0	.	25	A2CJ06	DYTN_HUMAN	L	25	ENSP00000396593:S25L	ENSP00000396593:S25L	S	-	2	0	DYTN	207283513	0.868000	0.29978	0.951000	0.38953	0.937000	0.57800	5.536000	0.67180	2.778000	0.95560	0.655000	0.94253	TCA	DYTN	-	pfam_EF-hand_dom_typ1	ENSG00000232125		0.313	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	72	0.00	0	G			207575268	207575268	-1	no_errors	ENST00000452335	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	0.979	A
EBF2	64641	genome.wustl.edu	37	8	25899697	25899697	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr8:25899697G>A	ENST00000520164.1	-	2	739	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	EBF2_ENST00000408929.3_5'Flank	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	68					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGGACGAAGTGAAAGAAGTTG	0.562																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	dbGAP											0													68.0	76.0	73.0					8																	25899697		2181	4296	6477	-	-	-	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.202C>T	8.37:g.25899697G>A	ENSP00000430241:p.His68Tyr		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.H68Y	ENST00000520164.1	37	c.202	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919865	0.92249	.	.	ENSG00000221818	ENST00000520164	T	0.58210	0.35	5.02	5.02	0.67125	.	0.000000	0.85682	U	0.000000	T	0.75019	0.3793	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.79801	-0.1650	10	0.87932	D	0	-22.8868	18.531	0.90992	0.0:0.0:1.0:0.0	.	68	Q9HAK2	COE2_HUMAN	Y	68	ENSP00000430241:H68Y	ENSP00000430241:H68Y	H	-	1	0	EBF2	25955614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.634000	0.89283	0.561000	0.74099	CAC	EBF2	-	NULL	ENSG00000221818		0.562	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	72	0.00	0	G	NM_022659		25899697	25899697	-1	no_errors	ENST00000520164	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	1.000	A
EIF2B5	8893	genome.wustl.edu	37	3	183862720	183862720	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr3:183862720G>A	ENST00000273783.3	+	16	2277	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	EIF2B5_ENST00000444495.1_Intron	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	719	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGAGTCATCTGAAGATGACTG	0.542																																						dbGAP											0													86.0	82.0	84.0					3																	183862720		2203	4300	6503	-	-	-	SO:0001583	missense	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.2155G>A	3.37:g.183862720G>A	ENSP00000273783:p.Glu719Lys		Q541Z1|Q96D04	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.E719K	ENST00000273783.3	37	c.2155	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	g	18.54	3.645257	0.67358	.	.	ENSG00000145191	ENST00000273783	D	0.84298	-1.83	5.7	5.7	0.88788	eIF4-gamma/eIF5/eIF2-epsilon (2);MIF4-like, type 1/2/3 (1);	0.146062	0.64402	D	0.000012	D	0.88081	0.6341	M	0.82823	2.61	0.80722	D	1	P	0.43938	0.822	B	0.41946	0.371	D	0.88712	0.3223	10	0.48119	T	0.1	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	719	Q13144	EI2BE_HUMAN	K	719	ENSP00000273783:E719K	ENSP00000273783:E719K	E	+	1	0	EIF2B5	185345414	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	8.677000	0.91203	2.696000	0.92011	0.655000	0.94253	GAA	EIF2B5	-	pfam_W2_domain	ENSG00000145191		0.542	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	33	0.00	0	G			183862720	183862720	+1	no_errors	ENST00000273783	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.999	A
EPS8L2	64787	genome.wustl.edu	37	11	726444	726444	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr11:726444G>A	ENST00000533256.1	+	20	2269	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	EPS8L2_ENST00000526198.1_Missense_Mutation_p.E648K|EPS8L2_ENST00000318562.8_Missense_Mutation_p.E632K|EPS8L2_ENST00000530636.1_Missense_Mutation_p.E632K|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	632					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCCGGACGAGGTCCGCGC	0.721																																						dbGAP											0													11.0	12.0	12.0					11																	726444		2157	4244	6401	-	-	-	SO:0001583	missense	0			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1894G>A	11.37:g.726444G>A	ENSP00000435585:p.Glu632Lys		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.E632K	ENST00000533256.1	37	c.1894	CCDS31328.1	11	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067649	0.55539	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	3.4	2.42	0.29668	.	0.198839	0.30949	U	0.008541	T	0.21227	0.0511	M	0.77406	2.37	0.39644	D	0.970363	P;P	0.45428	0.858;0.772	B;B	0.32583	0.148;0.148	T	0.26883	-1.0090	10	0.72032	D	0.01	-22.3012	11.4143	0.49943	0.0:0.1857:0.8143:0.0	.	648;632	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	K	632;632;632;648	ENSP00000320828:E632K;ENSP00000435585:E632K;ENSP00000436035:E632K;ENSP00000436230:E648K	ENSP00000320828:E632K	E	+	1	0	EPS8L2	716444	0.647000	0.27304	0.590000	0.28732	0.702000	0.40608	1.072000	0.30678	0.730000	0.32425	0.298000	0.19748	GAG	EPS8L2	-	superfamily_SAM/pointed	ENSG00000177106		0.721	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	11	0.00	0	G	NM_022772		726444	726444	+1	no_errors	ENST00000318562	ensembl	human	known	69_37n	missense	0	100.00	4	SNP	0.827	A
FAM127A	8933	genome.wustl.edu	37	X	134167176	134167176	+	3'UTR	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chrX:134167176G>A	ENST00000257013.7	+	0	844				FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A							plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CACAGCCATCGCCATCCATCG	0.617																																						dbGAP											0													94.0	87.0	89.0					X																	134167176		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.*421G>A	X.37:g.134167176G>A			Q6IBF1	RNA	SNP	-	NULL	ENST00000257013.7	37	NULL	CCDS43997.1	X																																																																																			FAM127A	-	-	ENSG00000134590		0.617	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	HGNC	protein_coding	OTTHUMT00000058391.2	58	0.00	0	G	NM_001078171		134167176	134167176	+1	no_errors	ENST00000464369	ensembl	human	known	69_37n	rna	50	23.08	15	SNP	0.000	A
FAM184A	79632	genome.wustl.edu	37	6	119345694	119345694	+	Silent	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr6:119345694G>A	ENST00000338891.7	-	2	887	c.444C>T	c.(442-444)gtC>gtT	p.V148V	FAM184A_ENST00000368475.4_Silent_p.V28V|FAM184A_ENST00000352896.5_Silent_p.V28V|FAM184A_ENST00000521531.1_Silent_p.V148V|FAM184A_ENST00000522284.1_Silent_p.V28V|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	148						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTATGCGTTGGACATGCTGGG	0.393																																						dbGAP											0													94.0	86.0	89.0					6																	119345694		1863	4084	5947	-	-	-	SO:0001819	synonymous_variant	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.444C>T	6.37:g.119345694G>A			B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	superfamily_Prefoldin	p.V148	ENST00000338891.7	37	c.444	CCDS43499.1	6																																																																																			FAM184A	-	NULL	ENSG00000111879		0.393	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	42	0.00	0	G	NM_024581		119345694	119345694	-1	no_errors	ENST00000338891	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.612	A
FBXW7	55294	genome.wustl.edu	37	4	153332918	153332918	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr4:153332918C>A	ENST00000281708.4	-	2	1267	c.38G>T	c.(37-39)cGa>cTa	p.R13L	FBXW7_ENST00000604872.1_Missense_Mutation_p.R13L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R13L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R13L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	13					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCAGTTCGTCGTCTTTTGCT	0.478			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	dbGAP		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0													79.0	69.0	72.0					4																	153332918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.38G>T	4.37:g.153332918C>A	ENSP00000281708:p.Arg13Leu		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	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,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R13L	ENST00000281708.4	37	c.38	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463065	0.63513	.	.	ENSG00000109670	ENST00000281708	T	0.62364	0.03	5.67	5.67	0.87782	.	0.098967	0.39475	N	0.001355	T	0.70640	0.3247	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.87578	0.998;0.931	T	0.74284	-0.3715	10	0.87932	D	0	-4.8831	19.7677	0.96349	0.0:1.0:0.0:0.0	.	13;13	G0Z2K0;Q969H0	.;FBXW7_HUMAN	L	13	ENSP00000281708:R13L	ENSP00000281708:R13L	R	-	2	0	FBXW7	153552368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.668000	0.90789	0.650000	0.86243	CGA	FBXW7	-	NULL	ENSG00000109670		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	94	0.00	0	C			153332918	153332918	-1	no_errors	ENST00000281708	ensembl	human	known	69_37n	missense	78	23.53	24	SNP	1.000	A
FDPS	2224	genome.wustl.edu	37	1	155279482	155279482	+	Intron	SNP	T	T	G	rs2297480	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:155279482T>G	ENST00000356657.6	+	2	161				FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000447866.1_Intron|FDPS_ENST00000368356.4_Intron	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase						cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGGCTAAGGCTGGGGTGGGAG	0.577													T|||	1850	0.369409	0.2821	0.3055	5008	,	,		18079	0.6895		0.2634	False		,,,				2504	0.3119					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.-1-98T>G	1.37:g.155279482T>G			D3DV91|E9PCI9|Q96G29	RNA	SNP	-	NULL	ENST00000356657.6	37	NULL	CCDS1110.1	1																																																																																			FDPS	-	-	ENSG00000160752		0.577	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	10	0.00	0	T	NM_002004		155279482	155279482	+1	no_errors	ENST00000487002	ensembl	human	known	69_37n	rna	15	23.81	5	SNP	0.000	G
FCRL5	83416	genome.wustl.edu	37	1	157504500	157504500	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:157504500A>T	ENST00000361835.3	-	8	1742	c.1585T>A	c.(1585-1587)Ttc>Atc	p.F529I	FCRL5_ENST00000368191.3_Missense_Mutation_p.F444I|FCRL5_ENST00000356953.4_Missense_Mutation_p.F529I|FCRL5_ENST00000368189.3_Missense_Mutation_p.F529I|FCRL5_ENST00000368190.3_Missense_Mutation_p.F529I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	529	Ig-like C2-type 5.				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)				GTCAGAGAGAAGCTGAAGGAC	0.502																																						dbGAP											0													57.0	57.0	57.0					1																	157504500		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.1585T>A	1.37:g.157504500A>T	ENSP00000354691:p.Phe529Ile		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F529I	ENST00000361835.3	37	c.1585	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.514321	0.27123	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	3.39	-5.6	0.02497	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.996480	0.03018	N	0.150380	T	0.00724	0.0024	N	0.10945	0.07	0.09310	N	0.999997	P;P;D;B;P;B	0.55172	0.798;0.944;0.97;0.24;0.537;0.077	P;P;P;B;B;B	0.58331	0.733;0.796;0.837;0.253;0.3;0.118	T	0.41734	-0.9492	10	0.22706	T	0.39	.	0.5737	0.00700	0.2415:0.1517:0.3088:0.2981	.	560;444;529;529;529;529	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	I	529;529;529;444;529	ENSP00000354691:F529I;ENSP00000349434:F529I;ENSP00000357173:F529I;ENSP00000357174:F444I;ENSP00000357172:F529I	ENSP00000349434:F529I	F	-	1	0	FCRL5	155771124	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.855000	0.04295	-1.131000	0.02910	0.260000	0.18958	TTC	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143297		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	50	0.00	0	A	NM_031281		157504500	157504500	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.000	T
GGT1	2678	genome.wustl.edu	37	22	25007131	25007131	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr22:25007131C>T	ENST00000400382.1	+	5	838	c.83C>T	c.(82-84)tCa>tTa	p.S28L	GGT1_ENST00000400380.1_Missense_Mutation_p.S28L|GGT1_ENST00000400383.1_Missense_Mutation_p.S28L|GGT1_ENST00000248923.4_Missense_Mutation_p.S28L|GGT1_ENST00000406383.2_Missense_Mutation_p.S28L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	28					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGGCTGCCCTCAGCCTCCAAG	0.622																																						dbGAP											0													13.0	13.0	13.0					22																	25007131		1978	4152	6130	-	-	-	SO:0001583	missense	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.83C>T	22.37:g.25007131C>T	ENSP00000383232:p.Ser28Leu		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.S28L	ENST00000400382.1	37	c.83	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	.	1.035	-0.680652	0.03353	.	.	ENSG00000100031	ENST00000248923;ENST00000456869;ENST00000411974;ENST00000412658;ENST00000445029;ENST00000419133;ENST00000400382;ENST00000438643;ENST00000452551;ENST00000400383;ENST00000412898;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23754	3.66;1.89;3.55;1.93;1.92;3.66;1.89;3.66;1.9;3.66;1.89;1.9;1.89;1.9;1.89;3.66;1.89	3.5	-0.239	0.13050	.	0.622228	0.11863	U	0.522179	T	0.12008	0.0292	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30119	-0.9989	10	0.26408	T	0.33	-44.6423	5.1117	0.14813	0.3792:0.5143:0.0:0.1064	.	28	P19440	GGT1_HUMAN	L	28	ENSP00000248923:S28L;ENSP00000389935:S28L;ENSP00000393537:S28L;ENSP00000393135:S28L;ENSP00000395271:S28L;ENSP00000383232:S28L;ENSP00000415553:S28L;ENSP00000383233:S28L;ENSP00000408151:S28L;ENSP00000383231:S28L;ENSP00000415024:S28L;ENSP00000417044:S28L;ENSP00000400621:S28L;ENSP00000398589:S28L;ENSP00000387796:S28L;ENSP00000385975:S28L;ENSP00000415068:S28L	ENSP00000248923:S28L	S	+	2	0	GGT1	23337131	0.001000	0.12720	0.029000	0.17559	0.219000	0.24729	-0.075000	0.11431	-0.079000	0.12707	0.650000	0.86243	TCA	GGT1	-	NULL	ENSG00000100031		0.622	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	126	0.00	0	C	NM_013430		25007131	25007131	+1	no_errors	ENST00000248923	ensembl	human	known	69_37n	missense	98	25.00	33	SNP	0.062	T
GGT1	2678	genome.wustl.edu	37	22	25019803	25019803	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr22:25019803C>T	ENST00000400382.1	+	11	1695	c.940C>T	c.(940-942)Cac>Tac	p.H314Y	GGT1_ENST00000400380.1_Missense_Mutation_p.H314Y|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Missense_Mutation_p.H314Y|GGT1_ENST00000248923.4_Missense_Mutation_p.H314Y|GGT1_ENST00000406383.2_Missense_Mutation_p.H314Y			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	314					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCTGACGTACCACCGCATCGT	0.617																																						dbGAP											0													16.0	16.0	16.0					22																	25019803		1844	4058	5902	-	-	-	SO:0001583	missense	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.940C>T	22.37:g.25019803C>T	ENSP00000383232:p.His314Tyr		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.H314Y	ENST00000400382.1	37	c.940	CCDS42992.1	22	.	.	.	.	.	.	.	.	.	.	.	16.63	3.176399	0.57692	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	3.53	3.53	0.40419	.	0.000000	0.85682	U	0.000000	T	0.42562	0.1208	M	0.93462	3.42	0.50313	D	0.999863	D	0.89917	1.0	D	0.91635	0.999	T	0.60260	-0.7298	10	0.87932	D	0	-16.3657	14.6172	0.68558	0.0:1.0:0.0:0.0	.	314	P19440	GGT1_HUMAN	Y	314	ENSP00000248923:H314Y;ENSP00000393537:H314Y;ENSP00000383232:H314Y;ENSP00000383233:H314Y;ENSP00000383231:H314Y;ENSP00000385975:H314Y	ENSP00000248923:H314Y	H	+	1	0	GGT1	23349803	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	7.187000	0.77730	1.972000	0.57404	0.650000	0.86243	CAC	GGT1	-	pfam_GGT_peptidase,tigrfam_GGT_peptidase	ENSG00000100031		0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	95	0.00	0	C	NM_013430		25019803	25019803	+1	no_errors	ENST00000248923	ensembl	human	known	69_37n	missense	114	12.98	17	SNP	1.000	T
GLRX3	10539	genome.wustl.edu	37	10	131967700	131967700	+	Silent	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr10:131967700C>T	ENST00000368644.1	+	7	739	c.717C>T	c.(715-717)ctC>ctT	p.L239L	GLRX3_ENST00000331244.5_Silent_p.L239L	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	239	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTAGGCTCAAAGTGCTGA	0.358																																						dbGAP											0													149.0	141.0	144.0					10																	131967700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.717C>T	10.37:g.131967700C>T			B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel	p.L239	ENST00000368644.1	37	c.717	CCDS7661.1	10																																																																																			GLRX3	-	superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel	ENSG00000108010		0.358	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GLRX3	HGNC	protein_coding	OTTHUMT00000051021.1	59	0.00	0	C	NM_006541		131967700	131967700	+1	no_errors	ENST00000331244	ensembl	human	known	69_37n	silent	46	19.30	11	SNP	1.000	T
GSN	2934	genome.wustl.edu	37	9	124091358	124091358	+	Intron	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr9:124091358G>A	ENST00000373818.4	+	14	2109				GSN_ENST00000373806.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373807.1_Intron|GSN_ENST00000373823.3_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGACTGGCCGGCAGCAGGGG	0.617																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2040+65G>A	9.37:g.124091358G>A			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			GSN	-	-	ENSG00000148180		0.617	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	33	0.00	0	G	NM_000177		124091358	124091358	+1	no_errors	ENST00000477553	ensembl	human	putative	69_37n	rna	22	18.52	5	SNP	0.000	A
HMGB1	3146	genome.wustl.edu	37	13	31039984	31039984	+	5'UTR	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr13:31039984G>A	ENST00000341423.5	-	0	118				HMGB1_ENST00000326004.4_5'UTR|HMGB1_ENST00000405805.1_Intron|HMGB1_ENST00000339872.4_5'Flank|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399489.1_5'Flank|HMGB1_ENST00000399494.1_5'Flank	NM_002128.4	NP_002119.1	P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CACTTGCCCCGGTGCTGTCTC	0.657																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000341423.5:c.-66C>T	13.37:g.31039984G>A			A5D8W9|Q14321|Q5T7C3|Q6IBE1	RNA	SNP	-	NULL	ENST00000341423.5	37	NULL	CCDS9335.1	13																																																																																			HMGB1	-	-	ENSG00000189403		0.657	HMGB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	HGNC	protein_coding	OTTHUMT00000044359.2	29	0.00	0	G	NM_002128		31039984	31039984	-1	no_errors	ENST00000468384	ensembl	human	known	69_37n	rna	24	26.47	9	SNP	0.998	A
HTATSF1	27336	genome.wustl.edu	37	X	135581801	135581801	+	Silent	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chrX:135581801C>T	ENST00000218364.4	+	2	405	c.231C>T	c.(229-231)ttC>ttT	p.F77F	HTATSF1_ENST00000535601.1_Silent_p.F77F	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	77					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ATTATGGCTTCTCTAACGATG	0.433																																						dbGAP											0													121.0	120.0	121.0					X																	135581801		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.231C>T	X.37:g.135581801C>T			D3DWG9|Q59G06|Q99730	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F77	ENST00000218364.4	37	c.231	CCDS14657.1	X																																																																																			HTATSF1	-	NULL	ENSG00000102241		0.433	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	79	0.00	0	C	NM_014500		135581801	135581801	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	silent	61	14.08	10	SNP	0.840	T
INPP5F	22876	genome.wustl.edu	37	10	121565916	121565916	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr10:121565916G>A	ENST00000361976.2	+	12	1530	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	757	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GGGATTTTTCGTGTTAATTGT	0.393																																						dbGAP											0													123.0	120.0	121.0					10																	121565916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1364G>A	10.37:g.121565916G>A	ENSP00000354519:p.Arg455His		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.R455H	ENST00000361976.2	37	c.1364	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.277739	0.95459	.	.	ENSG00000198825	ENST00000361976	T	0.26373	1.74	5.5	5.5	0.81552	Synaptojanin, N-terminal (1);	0.068230	0.64402	D	0.000017	T	0.55768	0.1941	H	0.97340	3.985	0.80722	D	1	D	0.61697	0.99	P	0.47134	0.539	T	0.75775	-0.3199	10	0.87932	D	0	-14.9201	19.425	0.94737	0.0:0.0:1.0:0.0	.	455	Q9Y2H2	SAC2_HUMAN	H	455	ENSP00000354519:R455H	ENSP00000354519:R455H	R	+	2	0	INPP5F	121555906	1.000000	0.71417	0.944000	0.38274	0.912000	0.54170	9.682000	0.98655	2.584000	0.87258	0.563000	0.77884	CGT	INPP5F	-	pfscan_Syja_N	ENSG00000198825		0.393	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	49	0.00	0	G	NM_014937		121565916	121565916	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	missense	36	30.19	16	SNP	1.000	A
ITGA4	3676	genome.wustl.edu	37	2	182399016	182399016	+	Silent	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr2:182399016C>T	ENST00000397033.2	+	26	3232	c.2802C>T	c.(2800-2802)ctC>ctT	p.L934L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	934					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CTTCAGCACTCAAGTTTGAAA	0.363																																						dbGAP											0													73.0	64.0	67.0					2																	182399016		1828	4089	5917	-	-	-	SO:0001819	synonymous_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2802C>T	2.37:g.182399016C>T			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L934	ENST00000397033.2	37	c.2802	CCDS42788.1	2																																																																																			ITGA4	-	NULL	ENSG00000115232		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	54	0.00	0	C			182399016	182399016	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	silent	34	24.44	11	SNP	1.000	T
JAM2	58494	genome.wustl.edu	37	21	27012166	27012166	+	Silent	SNP	G	G	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr21:27012166G>C	ENST00000480456.1	+	1	583	c.33G>C	c.(31-33)ctG>ctC	p.L11L	JAM2_ENST00000425221.2_Silent_p.L11L|JAM2_ENST00000400532.1_Silent_p.L11L|JAM2_ENST00000312957.5_Silent_p.L11L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	11					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCCTCCTCCTGCTGCTGCTGC	0.721																																						dbGAP											0													22.0	27.0	26.0					21																	27012166		1978	4158	6136	-	-	-	SO:0001819	synonymous_variant	0			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.33G>C	21.37:g.27012166G>C			B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L11	ENST00000480456.1	37	c.33	CCDS42911.1	21																																																																																			JAM2	-	NULL	ENSG00000154721		0.721	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JAM2	HGNC	protein_coding	OTTHUMT00000171347.1	64	0.00	0	G			27012166	27012166	+1	no_errors	ENST00000400535	ensembl	human	known	69_37n	silent	49	22.22	14	SNP	0.207	C
ZSWIM8	23053	genome.wustl.edu	37	10	75558790	75558790	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr10:75558790G>T	ENST00000605216.1	+	21	4409	c.4192G>T	c.(4192-4194)Gca>Tca	p.A1398S	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A1398S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1403S|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A1403S|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1365S|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1398							zinc ion binding (GO:0008270)										GGCCTGCATGGCAGTGGAAGA	0.537																																						dbGAP											0													71.0	79.0	76.0					10																	75558790		2048	4175	6223	-	-	-	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4192G>T	10.37:g.75558790G>T	ENSP00000474748:p.Ala1398Ser		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.A1403S	ENST00000605216.1	37	c.4207		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.237739|5.237739|5.237739	0.95240|0.95240|0.95240	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366|ENST00000412198	T|.|.	0.51325|.|.	0.71|.|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|.	0.000000|.|.	0.64402|.|.	U|.|.	0.000002|.|.	T|T|T	0.76622|0.76622|0.76622	0.4013|0.4013|0.4013	M|M|M	0.72894|0.72894|0.72894	2.215|2.215|2.215	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D;D;D|.|.	0.67145|.|.	0.996;0.996;0.996;0.996|.|.	D;D;D;D|.|.	0.77557|.|.	0.986;0.99;0.986;0.986|.|.	T|T|T	0.75113|0.75113|0.75113	-0.3432|-0.3432|-0.3432	10|5|5	0.49607|.|.	T|.|.	0.09|.|.	-4.3651|-4.3651|-4.3651	19.5953|19.5953|19.5953	0.95535|0.95535|0.95535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1398;1410;1398;1403|.|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.|.	K0913_HUMAN;.;.;.|.|.	S|V|C	1403|1113|672	ENSP00000381693:A1403S|.|.	ENSP00000381693:A1403S|.|.	A|G|W	+|+|+	1|2|3	0|0|0	KIAA0913|KIAA0913|KIAA0913	75228796|75228796|75228796	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.366000|9.366000|9.366000	0.97143|0.97143|0.97143	2.643000|2.643000|2.643000	0.89663|0.89663|0.89663	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGC|TGG	KIAA0913	-	NULL	ENSG00000214655		0.537	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	27	0.00	0	G	NM_001242487		75558790	75558790	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	T
KIDINS220	57498	genome.wustl.edu	37	2	8943190	8943190	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr2:8943190T>C	ENST00000256707.3	-	8	852	c.671A>G	c.(670-672)aAg>aGg	p.K224R	KIDINS220_ENST00000319688.5_Missense_Mutation_p.K225R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K224R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K182R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K224R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	224					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGATTCCTCTTCAAAATTTC	0.363																																						dbGAP											0													128.0	116.0	119.0					2																	8943190		1881	4101	5982	-	-	-	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.671A>G	2.37:g.8943190T>C	ENSP00000256707:p.Lys224Arg		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K224R	ENST00000256707.3	37	c.671	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822006	0.90873	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	L	0.28192	0.835	0.49483	D	0.999791	P;D;D	0.76494	0.722;0.997;0.999	B;D;D	0.91635	0.253;0.995;0.999	T	0.67345	-0.5694	9	.	.	.	.	16.3786	0.83431	0.0:0.0:0.0:1.0	.	225;182;224	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	224;224;182;224;225;225	ENSP00000256707:K224R;ENSP00000411849:K224R;ENSP00000414923:K182R;ENSP00000418974:K224R;ENSP00000419964:K225R;ENSP00000319947:K225R	.	K	-	2	0	KIDINS220	8860641	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	7.606000	0.82863	2.323000	0.78572	0.528000	0.53228	AAG	KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134313		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	73	0.00	0	T	NM_020738		8943190	8943190	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	1.000	C
KRT17	3872	genome.wustl.edu	37	17	39780674	39780674	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:39780674G>A	ENST00000311208.8	-	1	155	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	30	Head.			R -> Q (in Ref. 4; AL353997/AC022596). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCAGACAGCCGGCAGGAGGTG	0.706																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0													8.0	11.0	10.0					17																	39780674		2102	4130	6232	-	-	-	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.88C>T	17.37:g.39780674G>A	ENSP00000308452:p.Arg30Trp		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R30W	ENST00000311208.8	37	c.88	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	G	11.54	1.667870	0.29604	.	.	ENSG00000128422	ENST00000311208	D	0.83163	-1.69	5.65	2.36	0.29203	.	0.000000	0.42682	D	0.000668	T	0.76248	0.3961	M	0.68317	2.08	0.43879	D	0.996492	D	0.60575	0.988	B	0.41299	0.353	T	0.72257	-0.4346	10	0.37606	T	0.19	.	5.6035	0.17367	0.0779:0.3745:0.4331:0.1144	.	30	Q04695	K1C17_HUMAN	W	30	ENSP00000308452:R30W	ENSP00000308452:R30W	R	-	1	2	KRT17	37034200	0.000000	0.05858	0.992000	0.48379	0.736000	0.42039	-0.939000	0.03933	0.847000	0.35167	0.563000	0.77884	CGG	KRT17	-	NULL	ENSG00000128422		0.706	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT17	HGNC	protein_coding	OTTHUMT00000257460.1	88	0.00	0	G	NM_000422		39780674	39780674	-1	no_errors	ENST00000311208	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	0.436	A
LAMA1	284217	genome.wustl.edu	37	18	6943275	6943275	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr18:6943275G>C	ENST00000389658.3	-	62	9064	c.8971C>G	c.(8971-8973)Ctg>Gtg	p.L2991V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2991	Laminin G-like 5. {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)				TCAACAATCAGAGTGATACGG	0.488																																						dbGAP											0													312.0	241.0	265.0					18																	6943275		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.8971C>G	18.37:g.6943275G>C	ENSP00000374309:p.Leu2991Val			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.L2991V	ENST00000389658.3	37	c.8971	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	12.44	1.940113	0.34283	.	.	ENSG00000101680	ENST00000389658	T	0.61274	0.12	5.73	4.67	0.58626	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.56097	D	0.000023	T	0.76335	0.3973	M	0.81112	2.525	0.36517	D	0.869967	D;D	0.76494	0.999;0.992	D;D	0.85130	0.997;0.927	T	0.80970	-0.1144	10	0.46703	T	0.11	.	15.6198	0.76796	0.0767:0.0:0.9233:0.0	.	2991;321	P25391;B3KSD8	LAMA1_HUMAN;.	V	2991	ENSP00000374309:L2991V	ENSP00000374309:L2991V	L	-	1	2	LAMA1	6933275	1.000000	0.71417	0.451000	0.26982	0.121000	0.20230	2.916000	0.48813	2.709000	0.92574	0.563000	0.77884	CTG	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	124	0.00	0	G	NM_005559		6943275	6943275	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	104	18.11	23	SNP	0.694	C
LMO7	4008	genome.wustl.edu	37	13	76335112	76335112	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr13:76335112G>C	ENST00000341547.4	+	5	1671	c.411G>C	c.(409-411)ttG>ttC	p.L137F	LMO7_ENST00000526202.1_Missense_Mutation_p.L46F|LMO7_ENST00000357063.3_Missense_Mutation_p.L137F|LMO7_ENST00000377534.3_Missense_Mutation_p.L137F|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	137	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGATTGGATTGAAAGAAGCCC	0.353																																						dbGAP											0													78.0	77.0	77.0					13																	76335112		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.411G>C	13.37:g.76335112G>C	ENSP00000342112:p.Leu137Phe		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.L137F	ENST00000341547.4	37	c.411	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181001	0.57800	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.69926	0.22;0.22;0.22;0.22;-0.44	5.66	5.66	0.87406	.	0.110742	0.36854	N	0.002380	T	0.80829	0.4698	M	0.80982	2.52	0.41696	D	0.98937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.82973	-0.0191	10	0.87932	D	0	-8.6811	10.2144	0.43160	0.1467:0.0:0.8533:0.0	.	46;137;85	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	F	137;137;137;85;46	ENSP00000342112:L137F;ENSP00000349571:L137F;ENSP00000366757:L137F;ENSP00000366719:L85F;ENSP00000431129:L46F	ENSP00000342112:L137F	L	+	3	2	LMO7	75233113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.453000	0.44970	2.661000	0.90470	0.585000	0.79938	TTG	LMO7	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin	ENSG00000136153		0.353	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	38	0.00	0	G	NM_005358		76335112	76335112	+1	no_errors	ENST00000357063	ensembl	human	known	69_37n	missense	34	17.07	7	SNP	1.000	C
LTBP2	4053	genome.wustl.edu	37	14	74969268	74969268	+	Intron	SNP	C	C	T	rs77172932	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr14:74969268C>T	ENST00000261978.4	-	34	5557				LTBP2_ENST00000556690.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCCTCACCCTGCTGGCAAT	0.567													C|||	128	0.0255591	0.0076	0.0519	5008	,	,		20537	0.001		0.0686	False		,,,				2504	0.0123					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5170+87G>A	14.37:g.74969268C>T			Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R1753K	ENST00000261978.4	37	c.5258	CCDS9831.1	14																																																																																			LTBP2	-	NULL	ENSG00000119681		0.567	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	9	0.00	0	C	NM_000428		74969268	74969268	-1	no_errors	ENST00000553939	ensembl	human	known	69_37n	missense	6	70.00	14	SNP	0.001	T
MAP2K3	5606	genome.wustl.edu	37	17	21215457	21215457	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:21215457G>A	ENST00000342679.4	+	10	1027	c.778G>A	c.(778-780)Gag>Aag	p.E260K	MAP2K3_ENST00000316920.6_Missense_Mutation_p.E231K|MAP2K3_ENST00000361818.5_Missense_Mutation_p.E231K	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTGCAGATTGAGATGGCCAT	0.682																																						dbGAP											0													59.0	59.0	59.0					17																	21215457		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.778G>A	17.37:g.21215457G>A	ENSP00000345083:p.Glu260Lys		B3KSK7|Q99441|Q9UE71|Q9UE72	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.E260K	ENST00000342679.4	37	c.778	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.296642	0.95574	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.56103	0.48;0.48	5.84	5.84	0.93424	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	0.64402	D	0.000004	T	0.82135	0.4971	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86707	0.1933	10	0.87932	D	0	-51.728	20.1306	0.97998	0.0:0.0:1.0:0.0	.	260	P46734	MP2K3_HUMAN	K	260;231;231;264	ENSP00000345083:E260K;ENSP00000355081:E231K	ENSP00000319139:E264K	E	+	1	0	MAP2K3	21156050	1.000000	0.71417	0.978000	0.43139	0.603000	0.37013	9.690000	0.98676	2.751000	0.94390	0.655000	0.94253	GAG	MAP2K3	-	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	ENSG00000034152		0.682	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	122	0.00	0	G	NM_145109		21215457	21215457	+1	no_errors	ENST00000342679	ensembl	human	known	69_37n	missense	98	10.91	12	SNP	1.000	A
MEGF8	1954	genome.wustl.edu	37	19	42857928	42857928	+	Splice_Site	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr19:42857928G>A	ENST00000251268.6	+	22	3763	c.3763G>A	c.(3763-3765)Gcc>Acc	p.A1255T	MEGF8_ENST00000334370.4_Splice_Site_p.A1188T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1255	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCTCCCCAGGGCCGGTGGTTC	0.682																																						dbGAP											0													31.0	32.0	31.0					19																	42857928		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3762-1G>A	19.37:g.42857928G>A			A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.A1255T	ENST00000251268.6	37	c.3763		19	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891537	0.52014	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.60797	0.16;0.16	4.88	4.88	0.63580	EGF-like, laminin (4);	0.137883	0.49305	D	0.000144	T	0.42494	0.1205	N	0.14661	0.345	0.80722	D	1	P;P	0.44090	0.826;0.597	B;B	0.44315	0.446;0.24	T	0.31392	-0.9945	10	0.35671	T	0.21	-11.0342	10.5301	0.44971	0.0901:0.0:0.9099:0.0	.	1255;1188	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	T	1188;1255	ENSP00000334219:A1188T;ENSP00000251268:A1255T	ENSP00000251268:A1255T	A	+	1	0	MEGF8	47549768	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	4.236000	0.58675	2.546000	0.85860	0.511000	0.50034	GCC	MEGF8	-	pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000105429		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	41	0.00	0	G	NM_001410	Missense_Mutation	42857928	42857928	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	1.000	A
TPCN2	219931	genome.wustl.edu	37	11	68850688	68850688	+	Intron	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr11:68850688G>T	ENST00000294309.3	+	19	1790				TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_Intron|MIR3164_ENST00000581178.1_RNA	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			agcagaccctgcaatcatgcc	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1690-725G>T	11.37:g.68850688G>T			Q9NT82	RNA	SNP	-	NULL	ENST00000294309.3	37	NULL	CCDS8189.1	11																																																																																			MIR3164	-	-	ENSG00000265539		0.502	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3164	HGNC	protein_coding	OTTHUMT00000396878.2	41	0.00	0	G	NM_139075		68850688	68850688	+1	no_errors	ENST00000581178	ensembl	human	known	69_37n	rna	31	11.43	4	SNP	0.015	T
KMT2C	58508	genome.wustl.edu	37	7	151846017	151846017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr7:151846017delT	ENST00000262189.6	-	52	13213	c.12995delA	c.(12994-12996)aagfs	p.K4332fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K4389fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4332					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAGCCGAGGCTTCAGCTTGAC	0.517																																						dbGAP											0													63.0	58.0	60.0					7																	151846017		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12995delA	7.37:g.151846017delT	ENSP00000262189:p.Lys4332fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K4389fs	ENST00000262189.6	37	c.13166	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	32	0.00	0	T			151846017	151846017	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	26	25.71	9	DEL	1.000	-
MUC19	283463	genome.wustl.edu	37	12	40821259	40821259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr12:40821259C>T	ENST00000454784.4	+	12	1214	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric	161					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						GGCTCCTTTTCAAGACAGTGA	0.403																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.481C>T	12.37:g.40821259C>T	ENSP00000476404:p.Gln161*		Q8NA85	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_VWC_out,smart_Unchr_dom_Cys-rich	p.Q390*	ENST00000454784.4	37	c.1168		12	.	.	.	.	.	.	.	.	.	.	C	36	5.753877	0.96890	.	.	ENSG00000205592	ENST00000425730	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	12.8166	0.57669	0.1636:0.8364:0.0:0.0	.	.	.	.	X	390	.	ENSP00000395253:Q390X	Q	+	1	0	MUC19	39107526	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.445000	0.44899	2.548000	0.85928	0.591000	0.81541	CAA	MUC19	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000205592		0.403	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	78	0.00	0	C	XM_003403524		40821259	40821259	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000425730	ensembl	human	novel	69_37n	nonsense	53	18.46	12	SNP	1.000	T
MYO1E	4643	genome.wustl.edu	37	15	59428908	59428908	+	3'UTR	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr15:59428908G>T	ENST00000288235.4	-	0	4397					NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATATGGGCCAGCCACATTCTA	0.458																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.*671C>A	15.37:g.59428908G>T			Q14778	Silent	SNP	NULL	p.G66	ENST00000288235.4	37	c.198	CCDS32254.1	15																																																																																			MYO1E	-	NULL	ENSG00000157483		0.458	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	41	0.00	0	G	NM_004998		59428908	59428908	-1	no_start_codon	ENST00000559412	ensembl	human	putative	69_37n	silent	36	10.00	4	SNP	1.000	T
MYO3A	53904	genome.wustl.edu	37	10	26377234	26377234	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr10:26377234G>A	ENST00000265944.5	+	15	1628	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R	MYO3A_ENST00000543632.1_Missense_Mutation_p.G488R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	488	Myosin motor.				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						TAGCAGATTTGGAAAATACTT	0.378																																						dbGAP											0													65.0	68.0	67.0					10																	26377234		2203	4300	6503	-	-	-	SO:0001583	missense	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.1462G>A	10.37:g.26377234G>A	ENSP00000265944:p.Gly488Arg		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.G488R	ENST00000265944.5	37	c.1462	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038995	0.93630	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.93247	-3.19;-3.19	5.54	5.54	0.83059	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	H	0.98407	4.225	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	0.99194	1.0871	10	0.87932	D	0	.	19.8413	0.96690	0.0:0.0:1.0:0.0	.	488;488;488	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	R	488	ENSP00000265944:G488R;ENSP00000445909:G488R	ENSP00000265944:G488R	G	+	1	0	MYO3A	26417240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GGA	MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000095777		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	58	0.00	0	G	NM_017433		26377234	26377234	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	102047687	102047687	+	Silent	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr13:102047687G>T	ENST00000251127.6	-	3	219	c.138C>A	c.(136-138)gcC>gcA	p.A46A	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.A46A|NALCN_ENST00000376196.3_Silent_p.A46A	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	46					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGCTGATGATGGCACAGATGC	0.428																																						dbGAP											0													131.0	106.0	114.0					13																	102047687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.138C>A	13.37:g.102047687G>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.A46	ENST00000251127.6	37	c.138	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	30	0.00	0	G	NM_052867		102047687	102047687	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	silent	15	33.33	8	SNP	1.000	T
NBPF14	25832	genome.wustl.edu	37	1	148009510	148009510	+	Silent	SNP	G	G	A	rs587690666	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:148009510G>A	ENST00000369219.1	-	16	1813	c.1797C>T	c.(1795-1797)agC>agT	p.S599S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	599	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S599S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ACAGCTCCCCGCTGAGCCTGG	0.463													-|||	58	0.0115815	0.0015	0.0043	5008	,	,		57574	0.0506		0.001	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	stomach(1)											110.0	201.0	177.0					1																	148009510		1440	4051	5491	-	-	-	SO:0001819	synonymous_variant	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1797C>T	1.37:g.148009510G>A			Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.A605V	ENST00000369219.1	37	c.1814		1	.	.	.	.	.	.	.	.	.	.	g	2.154	-0.393869	0.04899	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28808	-1.0032	1	.	.	.	.	.	.	.	rs56160124	.	.	.	V	605	.	.	A	-	2	0	NBPF14	146476134	0.993000	0.37304	.	.	.	.	0.748000	0.26305	.	.	.	.	GCG	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding		37	0.00	0	G	NM_015383		148009510	148009510	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000310701	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.000	A
NECAB1	64168	genome.wustl.edu	37	8	91929752	91929752	+	Silent	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr8:91929752C>T	ENST00000417640.2	+	6	727	c.390C>T	c.(388-390)ttC>ttT	p.F130F		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	130						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TGGAACAATTCGTAACTAGAT	0.393																																						dbGAP											0													82.0	78.0	79.0					8																	91929752		1815	4073	5888	-	-	-	SO:0001819	synonymous_variant	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.390C>T	8.37:g.91929752C>T			Q6NUS7|Q96AZ7|Q9HBW8	Silent	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F130	ENST00000417640.2	37	c.390	CCDS47889.1	8																																																																																			NECAB1	-	NULL	ENSG00000123119		0.393	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	67	0.00	0	C	NM_022351		91929752	91929752	+1	no_errors	ENST00000417640	ensembl	human	known	69_37n	silent	41	36.36	24	SNP	1.000	T
PBOV1	59351	genome.wustl.edu	37	6	138539212	138539212	+	Silent	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr6:138539212G>A	ENST00000527246.2	-	1	415	c.321C>T	c.(319-321)ttC>ttT	p.F107F	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	107						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		AAGTCAATGTGAATAATATGG	0.408																																						dbGAP											0													168.0	176.0	173.0					6																	138539212		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF189269	CCDS5190.1	6q23.3	2012-02-09			ENSG00000254440	ENSG00000254440			21079	protein-coding gene	gene with protein product		605669				12553037, 11156405	Standard	NM_021635		Approved	UC28, UROC28	uc003qhv.3	Q9GZY1	OTTHUMG00000167040	ENST00000527246.2:c.321C>T	6.37:g.138539212G>A				Silent	SNP	NULL	p.F107	ENST00000527246.2	37	c.321	CCDS5190.1	6																																																																																			PBOV1	-	NULL	ENSG00000254440		0.408	PBOV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBOV1	HGNC	protein_coding	OTTHUMT00000392617.1	89	0.00	0	G	NM_021635		138539212	138539212	-1	no_errors	ENST00000527246	ensembl	human	known	69_37n	silent	74	18.68	17	SNP	0.047	A
PDE3B	5140	genome.wustl.edu	37	11	14665751	14665751	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr11:14665751C>G	ENST00000282096.4	+	1	483	c.130C>G	c.(130-132)Ccg>Gcg	p.P44A	PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Missense_Mutation_p.P44A	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	44					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GCAGGACCCTCCGCGCGGCTT	0.726																																						dbGAP											0													9.0	9.0	9.0					11																	14665751		1989	4023	6012	-	-	-	SO:0001583	missense	0			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.130C>G	11.37:g.14665751C>G	ENSP00000282096:p.Pro44Ala		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.P44A	ENST00000282096.4	37	c.130	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295925	0.60086	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.62498	0.09;0.02	3.36	2.41	0.29592	.	0.899723	0.09094	U	0.849454	T	0.48502	0.1503	N	0.24115	0.695	0.40609	D	0.981653	B;B;B	0.27997	0.056;0.056;0.197	B;B;B	0.21708	0.008;0.008;0.036	T	0.29427	-1.0012	10	0.46703	T	0.11	.	12.1759	0.54186	0.0:0.8254:0.1745:0.0	.	44;44;44	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	A	44	ENSP00000282096:P44A;ENSP00000388644:P44A	ENSP00000282096:P44A	P	+	1	0	PDE3B	14622327	0.992000	0.36948	1.000000	0.80357	0.962000	0.63368	3.565000	0.53798	0.507000	0.28148	0.313000	0.20887	CCG	PDE3B	-	NULL	ENSG00000152270		0.726	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1	10	0.00	0	C	NM_000922		14665751	14665751	+1	no_errors	ENST00000282096	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {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.M1043V(22)		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)	CATGAAACAAATGAATGATGC	0.368		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"""	22	Substitution - Missense(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)											97.0	87.0	91.0					3																	178952072		1905	4126	6031	-	-	-	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.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val		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.M1043V	ENST00000263967.3	37	c.3127	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	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	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	20	0.00	0	A			178952072	178952072	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	G
KIZ	55857	genome.wustl.edu	37	20	21224941	21224941	+	RNA	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr20:21224941C>T	ENST00000457464.1	+	0	1536																											GAGAGATAATCGGACACTAGA	0.368																																						dbGAP											0													64.0	60.0	61.0					20																	21224941		1828	4083	5911	-	-	-			0																															20.37:g.21224941C>T				RNA	SNP	-	NULL	ENST00000457464.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.368	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	PLK1S1	HGNC	processed_transcript	OTTHUMT00000078262.2	64	0.00	0	C			21224941	21224941	+1	no_errors	ENST00000451772	ensembl	human	known	69_37n	rna	51	25.00	17	SNP	0.000	T
HELZ2	85441	genome.wustl.edu	37	20	62203329	62203329	+	Intron	SNP	A	A	G	rs370520084		TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr20:62203329A>G	ENST00000467148.1	-	1	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						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)										CTCCTGCCCTACTCCAAGCTC	0.662																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.278+131T>C	20.37:g.62203329A>G			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			RP4-697K14.7	-	-	ENSG00000130589		0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIC285	Clone_based_vega_gene	protein_coding	OTTHUMT00000354127.1	45	0.00	0	A	NM_001037335		62203329	62203329	-1	no_errors	ENST00000479540	ensembl	human	known	69_37n	rna	41	10.64	5	SNP	0.196	G
PRSS54	221191	genome.wustl.edu	37	16	58314580	58314580	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr16:58314580C>T	ENST00000219301.4	-	7	1130	c.736G>A	c.(736-738)Gag>Aag	p.E246K	CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E246K|PRSS54_ENST00000543437.1_Missense_Mutation_p.E147K|CCDC113_ENST00000443128.2_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCACGTCTCACCACCGAAG	0.557																																						dbGAP											0													68.0	65.0	66.0					16																	58314580		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.736G>A	16.37:g.58314580C>T	ENSP00000219301:p.Glu246Lys		Q96LN9|Q9NT77	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	p.E246K	ENST00000219301.4	37	c.736	CCDS32463.1	16	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010670	0.54361	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88277	-2.36;-2.36	5.77	1.58	0.23477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.608657	0.16110	N	0.229154	D	0.84079	0.5393	L	0.41906	1.305	0.09310	N	1	D	0.53312	0.959	P	0.53102	0.718	T	0.73704	-0.3899	10	0.06891	T	0.86	-9.5191	4.9877	0.14198	0.0:0.6015:0.1626:0.2359	.	246	Q6PEW0	PRS54_HUMAN	K	246;147	ENSP00000219301:E246K;ENSP00000437705:E147K	ENSP00000219301:E246K	E	-	1	0	PRSS54	56872081	0.002000	0.14202	0.005000	0.12908	0.040000	0.13550	0.257000	0.18369	0.755000	0.32990	0.655000	0.94253	GAG	PRSS54	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000103023		0.557	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS54	HGNC	protein_coding	OTTHUMT00000422556.1	29	0.00	0	C	NM_001080492		58314580	58314580	-1	no_errors	ENST00000219301	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.000	T
RASEF	158158	genome.wustl.edu	37	9	85615112	85615114	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr9:85615112_85615114delTTC	ENST00000376447.3	-	12	1953_1955	c.1693_1695delGAA	c.(1693-1695)gaadel	p.E565del		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	565					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						TTTCTCGAAATTCATTCTTGCAA	0.429																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.1693_1695delGAA	9.37:g.85615112_85615114delTTC	ENSP00000365630:p.Glu565del		A6NC29|Q96N04	In_Frame_Del	DEL	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.E565in_frame_del	ENST00000376447.3	37	c.1695_1693	CCDS6662.1	9																																																																																			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		0.429	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	43	0.00	0	TTC	NM_152573		85615112	85615114	-1	no_errors	ENST00000376447	ensembl	human	known	69_37n	in_frame_del	23	11.54	3	DEL	1.000:1.000:1.000	-
RET	5979	genome.wustl.edu	37	10	43597899	43597899	+	Silent	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr10:43597899C>T	ENST00000355710.3	+	3	679	c.447C>T	c.(445-447)ttC>ttT	p.F149F	RET_ENST00000340058.5_Silent_p.F149F	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	149					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACTTCTCCTTCTTCAACACCT	0.617		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													136.0	114.0	121.0					10																	43597899		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.447C>T	10.37:g.43597899C>T			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.F149	ENST00000355710.3	37	c.447	CCDS7200.1	10																																																																																			RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.617	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	48	0.00	0	C	NM_020975		43597899	43597899	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	silent	43	20.37	11	SNP	0.345	T
RNFT1	51136	genome.wustl.edu	37	17	58034639	58034639	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:58034639G>T	ENST00000305783.8	-	6	1006	c.951C>A	c.(949-951)aaC>aaA	p.N317K	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	317						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ATCTAGTTACGTTACCAAACT	0.373																																						dbGAP											0													109.0	97.0	101.0					17																	58034639		1879	4110	5989	-	-	-	SO:0001583	missense	0			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.951C>A	17.37:g.58034639G>T	ENSP00000304670:p.Asn317Lys		Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N317K	ENST00000305783.8	37	c.951	CCDS11622.2	17	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678615	0.29783	.	.	ENSG00000189050	ENST00000305783	T	0.44482	0.92	4.93	2.59	0.31030	.	0.190163	0.53938	D	0.000041	T	0.19685	0.0473	N	0.14661	0.345	0.80722	D	1	P	0.34724	0.465	B	0.26416	0.069	T	0.05683	-1.0870	10	0.19590	T	0.45	-13.2582	8.9183	0.35596	0.8459:0.0:0.1541:0.0	.	317	Q5M7Z0	RNFT1_HUMAN	K	317	ENSP00000304670:N317K	ENSP00000304670:N317K	N	-	3	2	RNFT1	55389421	0.778000	0.28640	0.999000	0.59377	0.941000	0.58515	1.715000	0.37971	0.234000	0.21139	-0.300000	0.09419	AAC	RNFT1	-	NULL	ENSG00000189050		0.373	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT1	HGNC	protein_coding	OTTHUMT00000308958.1	35	0.00	0	G	NM_016125		58034639	58034639	-1	no_errors	ENST00000305783	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.939	T
SALL2	6297	genome.wustl.edu	37	14	21993215	21993215	+	Missense_Mutation	SNP	G	G	A	rs201605296	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr14:21993215G>A	ENST00000327430.3	-	2	941	c.647C>T	c.(646-648)aCg>aTg	p.T216M	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGCACCCACCGTCTGGCCTAA	0.597													G|||	4	0.000798722	0.0008	0.0	5008	,	,		12974	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													38.0	39.0	38.0					14																	21993215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.647C>T	14.37:g.21993215G>A	ENSP00000333537:p.Thr216Met		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T216M	ENST00000327430.3	37	c.647	CCDS32045.1	14	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	8.441	0.850750	0.17034	.	.	ENSG00000165821	ENST00000327430;ENST00000541876	T	0.03982	3.74	4.46	3.54	0.40534	.	0.659502	0.12537	N	0.460226	T	0.03178	0.0093	N	0.08118	0	0.46774	D	0.99919	P;P	0.48640	0.913;0.913	B;B	0.40565	0.333;0.333	T	0.57705	-0.7765	10	0.56958	D	0.05	-3.542	10.1668	0.42886	0.0:0.2024:0.7976:0.0	.	214;216	B4DFD9;Q9Y467	.;SALL2_HUMAN	M	216	ENSP00000333537:T216M	ENSP00000333537:T216M	T	-	2	0	SALL2	21063055	0.981000	0.34729	0.604000	0.28916	0.449000	0.32228	3.613000	0.54152	1.069000	0.40788	0.655000	0.94253	ACG	SALL2	-	NULL	ENSG00000165821		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1	25	0.00	0	G	NM_005407		21993215	21993215	-1	no_errors	ENST00000327430	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.446	A
RP11-182J1.1	0	genome.wustl.edu	37	15	85177723	85177723	+	RNA	SNP	T	T	G	rs36126054	byFrequency	TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr15:85177723T>G	ENST00000527801.1	-	0	0				SCAND2P_ENST00000348993.5_RNA																							GCAACCCTCATGAAGTACAAC	0.383													T|||	705	0.140775	0.0144	0.1859	5008	,	,		19874	0.1369		0.2634	False		,,,				2504	0.1575					dbGAP											0																																										-	-	-			0																															15.37:g.85177723T>G				RNA	SNP	-	NULL	ENST00000527801.1	37	NULL		15																																																																																			SCAND2	-	-	ENSG00000176700		0.383	RP11-182J1.1-001	KNOWN	basic|exp_conf	antisense	SCAND2	HGNC	antisense	OTTHUMT00000390220.1	49	0.00	0	T			85177723	85177723	+1	no_errors	ENST00000427525	ensembl	human	known	69_37n	rna	35	10.00	4	SNP	1.000	G
SETD8	387893	genome.wustl.edu	37	12	123874686	123874686	+	Intron	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr12:123874686G>A	ENST00000402868.3	+	3	558				SETD8_ENST00000478781.2_Intron|SETD8_ENST00000330479.4_Intron			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8						histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GGGCTGCAGTGATTTGAGAGG	0.662																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.133-491G>A	12.37:g.123874686G>A			A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.D32N	ENST00000402868.3	37	c.94	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656402	0.29425	.	.	ENSG00000183955	ENST00000437502	.	.	.	3.4	-2.53	0.06326	.	.	.	.	.	T	0.18299	0.0439	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.24368	-1.0162	5	0.26408	T	0.33	.	1.1435	0.01770	0.2165:0.3177:0.3042:0.1616	.	.	.	.	N	32	.	ENSP00000413811:D32N	D	+	1	0	SETD8	122440639	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.579000	0.05834	-0.527000	0.06374	0.650000	0.86243	GAT	SETD8	-	pirsf_Hist_H4-K20_MeTrfase	ENSG00000183955		0.662	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	48	0.00	0	G	NM_020382		123874686	123874686	+1	no_stop_codon	ENST00000437502	ensembl	human	putative	69_37n	missense	44	21.05	12	SNP	0.000	A
SLAIN1	122060	genome.wustl.edu	37	13	78337312	78337313	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr13:78337312_78337313TC>CT	ENST00000466548.1	+	8	1690_1691	c.1664_1665TC>CT	c.(1663-1665)cTC>cCT	p.L555P	SLAIN1_ENST00000351546.3_Missense_Mutation_p.L292P|SLAIN1_ENST00000267219.8_Missense_Mutation_p.L336P|SLAIN1_ENST00000358679.3_Missense_Mutation_p.L292P|SLAIN1_ENST00000488699.1_Missense_Mutation_p.L413P|SLAIN1_ENST00000314070.5_Missense_Mutation_p.L178P|SLAIN1_ENST00000418532.1_Missense_Mutation_p.L336P	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	555										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CTGTCTTCACTCAGCACTCTGA	0.391																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	Exception_encountered	13.37:g.78337312_78337313delinsCT	ENSP00000419730:p.Leu555Pro		A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation|Silent	SNP	NULL	p.L555P|p.L555	ENST00000466548.1	37	c.1664|c.1665		13																																																																																			SLAIN1	-	NULL	ENSG00000139737		0.391	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	SLAIN1	HGNC	protein_coding	OTTHUMT00000355018.1	106|105	0.00	0	T|C	NM_144595		78337312|78337313	78337312|78337313	+1	no_errors	ENST00000466548	ensembl	human	known	69_37n	missense|silent	70|71	26.04|24.47	25|23	SNP	1.000	C|T
SMURF2	64750	genome.wustl.edu	37	17	62547752	62547752	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr17:62547752C>T	ENST00000262435.9	-	16	2006	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	607	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGAATTACTTCATTAAATCCT	0.388																																						dbGAP											0													151.0	141.0	145.0					17																	62547752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1819G>A	17.37:g.62547752C>T	ENSP00000262435:p.Glu607Lys		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E607K	ENST00000262435.9	37	c.1819	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.649782	0.96714	.	.	ENSG00000108854	ENST00000262435	T	0.59502	0.26	5.37	5.37	0.77165	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.77811	-0.2449	10	0.87932	D	0	.	19.4826	0.95016	0.0:1.0:0.0:0.0	.	607	Q9HAU4	SMUF2_HUMAN	K	607	ENSP00000262435:E607K	ENSP00000262435:E607K	E	-	1	0	SMURF2	59978214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.678000	0.91216	0.555000	0.69702	GAA	SMURF2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000108854		0.388	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	73	0.00	0	C	NM_022739		62547752	62547752	-1	no_errors	ENST00000262435	ensembl	human	known	69_37n	missense	47	30.88	21	SNP	1.000	T
SNRPB	6628	genome.wustl.edu	37	20	2446383	2446383	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr20:2446383T>C	ENST00000438552.2	-	3	400	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	SNRPB_ENST00000339610.6_Start_Codon_SNP_p.M1V|SNRPB_ENST00000381342.2_Missense_Mutation_p.M80V|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	80					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TCTACTGTCATTGAGACCAGA	0.527																																						dbGAP											0													137.0	115.0	123.0					20																	2446383		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.238A>G	20.37:g.2446383T>C	ENSP00000412566:p.Met80Val		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.M80V	ENST00000438552.2	37	c.238	CCDS13026.1	20	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145077	0.57044	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.32988	1.43;1.43	4.81	4.81	0.61882	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.27166	0.14;0.092;0.092;0.17	B;B;B;B	0.30401	0.067;0.065;0.065;0.115	T	0.10177	-1.0641	10	0.87932	D	0	.	12.3638	0.55217	0.0:0.0:0.0:1.0	.	1;80;80;80	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	V	80;80;80;1	ENSP00000370746:M80V;ENSP00000412566:M80V	ENSP00000303591:M80V	M	-	1	0	SNRPB	2394383	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	7.861000	0.87004	2.016000	0.59253	0.533000	0.62120	ATG	SNRPB	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	ENSG00000125835		0.527	SNRPB-002	KNOWN	basic|CCDS	protein_coding	SNRPB	HGNC	protein_coding	OTTHUMT00000077585.2	42	0.00	0	T			2446383	2446383	-1	no_errors	ENST00000438552	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	0.994	C
SP110	3431	genome.wustl.edu	37	2	231042265	231042265	+	Missense_Mutation	SNP	C	C	T	rs200928586		TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr2:231042265C>T	ENST00000358662.4	-	14	1657	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	SP110_ENST00000540870.1_Missense_Mutation_p.E533K|SP110_ENST00000338556.3_Missense_Mutation_p.E229K|SP110_ENST00000258382.5_Missense_Mutation_p.E527K|SP110_ENST00000392048.3_Missense_Mutation_p.E525K|SP110_ENST00000258381.6_Missense_Mutation_p.E527K	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	527	Nuclear hormone receptor interaction. {ECO:0000255}.|SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TTCAGCAGCTCTCCTAGGGTC	0.428																																						dbGAP											0													348.0	332.0	338.0					2																	231042265		2203	4300	6503	-	-	-	SO:0001583	missense	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1579G>A	2.37:g.231042265C>T	ENSP00000351488:p.Glu527Lys		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E527K	ENST00000358662.4	37	c.1579	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049361	0.19827	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.83	-5.64	0.02466	SAND domain-like (2);SAND domain (3);	2.180870	0.02368	N	0.077503	T	0.44180	0.1281	N	0.05306	-0.075	0.09310	N	1	B;B;B;B;B	0.24651	0.046;0.108;0.046;0.026;0.046	B;B;B;B;B	0.22386	0.023;0.039;0.023;0.036;0.013	T	0.26155	-1.0111	10	0.32370	T	0.25	.	4.2127	0.10519	0.1533:0.5089:0.1455:0.1923	.	525;229;533;527;527	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	K	527;527;525;527;533;229	ENSP00000258381:E527K;ENSP00000351488:E527K;ENSP00000375902:E525K;ENSP00000258382:E527K;ENSP00000439558:E533K;ENSP00000344049:E229K	ENSP00000258381:E527K	E	-	1	0	SP110	230750509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.016000	0.03371	-0.300000	0.09419	GAG	SP110	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000135899		0.428	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	107	0.93	1	C	NM_080424		231042265	231042265	-1	no_errors	ENST00000258381	ensembl	human	known	69_37n	missense	94	20.34	24	SNP	0.000	T
STX4	6810	genome.wustl.edu	37	16	31045531	31045531	+	Intron	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr16:31045531C>T	ENST00000313843.3	+	3	447				STX4_ENST00000394998.1_Silent_p.L37L|STX4_ENST00000493902.1_Intron	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCAGCCCTCTCGGTCACCCTC	0.582																																						dbGAP											0													116.0	120.0	118.0					16																	31045531		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.133-16C>T	16.37:g.31045531C>T			A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	NULL	p.R47W	ENST00000313843.3	37	c.139	CCDS10700.1	16																																																																																			STX4	-	NULL	ENSG00000103496		0.582	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX4	HGNC	protein_coding	OTTHUMT00000255538.3	53	0.00	0	C	NM_004604		31045531	31045531	+1	no_errors	ENST00000460668	ensembl	human	known	69_37n	missense	59	19.18	14	SNP	0.972	T
TAF1	6872	genome.wustl.edu	37	X	70678200	70678200	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chrX:70678200delA	ENST00000373790.4	+	35	5096	c.5045delA	c.(5044-5046)gaafs	p.E1682fs	TAF1_ENST00000423759.1_Frame_Shift_Del_p.E1705fs|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Frame_Shift_Del_p.E1703fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.E1682fs	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1682	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCCACTCCAGAAAAGCAGGTA	0.428																																						dbGAP											0													155.0	125.0	135.0					X																	70678200		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5045delA	X.37:g.70678200delA	ENSP00000362895:p.Glu1682fs		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.K1683fs	ENST00000373790.4	37	c.5045	CCDS35325.1	X																																																																																			TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	118	0.84	1	A	NM_004606		70678200	70678200	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	frame_shift_del	95	25.95	34	DEL	1.000	-
TCAIM	285343	genome.wustl.edu	37	3	44442753	44442753	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr3:44442753G>A	ENST00000342649.4	+	10	1604	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	TCAIM_ENST00000417237.1_Missense_Mutation_p.D393N	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	393						mitochondrion (GO:0005739)											AACACTCTGTGATCCAGCAAA	0.403																																						dbGAP											0													137.0	129.0	132.0					3																	44442753		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1177G>A	3.37:g.44442753G>A	ENSP00000341539:p.Asp393Asn		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.D393N	ENST00000342649.4	37	c.1177	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990860	0.54041	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.47177	0.85;0.85	5.6	5.6	0.85130	.	0.046491	0.85682	D	0.000000	T	0.65595	0.2706	M	0.63428	1.95	0.58432	D	0.999999	D	0.76494	0.999	D	0.71656	0.974	T	0.57820	-0.7745	10	0.19590	T	0.45	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	393	Q8N3R3	CC023_HUMAN	N	393	ENSP00000402581:D393N;ENSP00000341539:D393N	ENSP00000341539:D393N	D	+	1	0	C3orf23	44417757	1.000000	0.71417	0.072000	0.20136	0.746000	0.42486	8.472000	0.90407	2.642000	0.89623	0.555000	0.69702	GAT	TCAIM	-	NULL	ENSG00000179152		0.403	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	62	0.00	0	G	NM_173826		44442753	44442753	+1	no_errors	ENST00000342649	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	0.971	A
TRERF1	55809	genome.wustl.edu	37	6	42214210	42214210	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr6:42214210A>T	ENST00000372922.4	-	14	3291	c.2729T>A	c.(2728-2730)aTt>aAt	p.I910N	TRERF1_ENST00000541110.1_Missense_Mutation_p.I930N|TRERF1_ENST00000340840.2_Missense_Mutation_p.I827N|TRERF1_ENST00000372917.4_Missense_Mutation_p.I827N|TRERF1_ENST00000354325.2_Missense_Mutation_p.I827N	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	910	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGTACAAAAATAAAGTCTTT	0.343																																						dbGAP											0													153.0	153.0	153.0					6																	42214210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2729T>A	6.37:g.42214210A>T	ENSP00000362013:p.Ile910Asn		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.I930N	ENST00000372922.4	37	c.2789	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950042	0.53186	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.17	5.17	0.71159	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.53938	D	0.000051	T	0.10078	0.0247	N	0.02539	-0.55	0.44728	D	0.997726	P;P;P;P;B	0.41848	0.763;0.651;0.651;0.763;0.054	P;B;B;P;B	0.47528	0.549;0.347;0.347;0.549;0.113	T	0.26326	-1.0106	10	0.27082	T	0.32	-8.5703	14.2944	0.66302	1.0:0.0:0.0:0.0	.	827;930;910;666;666	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	N	930;827;910;827;827	ENSP00000439689:I930N;ENSP00000362008:I827N;ENSP00000362013:I910N;ENSP00000339438:I827N;ENSP00000346285:I827N	ENSP00000339438:I827N	I	-	2	0	TRERF1	42322188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.368000	0.59505	2.085000	0.62840	0.533000	0.62120	ATT	TRERF1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000124496		0.343	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	93	0.00	0	A	NM_033502		42214210	42214210	-1	no_errors	ENST00000541110	ensembl	human	known	69_37n	missense	58	25.64	20	SNP	1.000	T
TRIM9	114088	genome.wustl.edu	37	14	51467550	51467550	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr14:51467550G>A	ENST00000298355.3	-	6	2436	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	TRIM9_ENST00000360392.4_Missense_Mutation_p.P439S|TRIM9_ENST00000338969.5_Intron	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	439					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTGGGACTGGAGAGGAAGCT	0.498																																						dbGAP											0													131.0	123.0	126.0					14																	51467550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1315C>T	14.37:g.51467550G>A	ENSP00000298355:p.Pro439Ser		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.P439S	ENST00000298355.3	37	c.1315	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935843	0.34189	.	.	ENSG00000100505	ENST00000298355;ENST00000360392	T;T	0.27402	1.67;1.67	5.64	5.64	0.86602	Fibronectin, type III (3);	.	.	.	.	T	0.32315	0.0825	L	0.46819	1.47	0.44402	D	0.997316	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.03981	-1.0987	9	0.51188	T	0.08	.	18.68	0.91544	0.0:0.0:1.0:0.0	.	439;439	Q9C026-5;Q9C026	.;TRIM9_HUMAN	S	439	ENSP00000298355:P439S;ENSP00000353561:P439S	ENSP00000298355:P439S	P	-	1	0	TRIM9	50537300	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.243000	0.58721	2.660000	0.90430	0.591000	0.81541	CCA	TRIM9	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000100505		0.498	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	55	0.00	0	G	NM_015163		51467550	51467550	-1	no_errors	ENST00000298355	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	1.000	A
TRPM2	7226	genome.wustl.edu	37	21	45833778	45833778	+	Silent	SNP	G	G	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr21:45833778G>T	ENST00000397928.1	+	20	3412	c.2967G>T	c.(2965-2967)gtG>gtT	p.V989V	TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Silent_p.V989V|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Silent_p.V989V|TRPM2_ENST00000300481.9_Silent_p.V969V	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	989					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCCAGGTGTGAACTTCAACC	0.632																																						dbGAP											0													142.0	152.0	149.0					21																	45833778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2967G>T	21.37:g.45833778G>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.V989	ENST00000397928.1	37	c.2967	CCDS13710.1	21																																																																																			TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	34	0.00	0	G	NM_003307		45833778	45833778	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	silent	36	30.77	16	SNP	0.997	T
TTN	7273	genome.wustl.edu	37	2	179569262	179569262	+	Silent	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr2:179569262G>A	ENST00000591111.1	-	103	29210	c.28986C>T	c.(28984-28986)atC>atT	p.I9662I	TTN_ENST00000589042.1_Silent_p.I9979I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I8735I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13738	Ig-like 78.				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)			TAGCGCTAGCGATGTGTGGAC	0.373																																						dbGAP											0													94.0	87.0	90.0					2																	179569262		1891	4111	6002	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28986C>T	2.37:g.179569262G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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.I8735	ENST00000591111.1	37	c.26205		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	86	0.00	0	G	NM_133378		179569262	179569262	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	68	26.88	25	SNP	0.219	A
UBC	7316	genome.wustl.edu	37	12	125397564	125397564	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr12:125397564C>G	ENST00000536769.1	-	1	2330	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.E176Q|UBC_ENST00000339647.5_Missense_Mutation_p.E252Q|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	252	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TTGACGTTCTCGATAGTGTCA	0.537																																						dbGAP											0													265.0	237.0	246.0					12																	125397564		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.754G>C	12.37:g.125397564C>G	ENSP00000441543:p.Glu252Gln		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.E252Q	ENST00000536769.1	37	c.754	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	-	16.01	3.000433	0.54147	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74526	-0.85;-0.85;-0.85	2.93	2.93	0.34026	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48767	U	0.000168	T	0.77260	0.4104	M	0.70903	2.155	0.80722	D	1	P;B;P	0.42785	0.79;0.042;0.682	P;B;P	0.47891	0.56;0.048;0.56	T	0.81050	-0.1108	10	0.87932	D	0	.	11.8225	0.52247	0.0:1.0:0.0:0.0	.	341;252;252	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	Q	252;252;176;252;176	ENSP00000441543:E252Q;ENSP00000344818:E252Q;ENSP00000438394:E176Q	ENSP00000344818:E252Q	E	-	1	0	UBC	123963517	0.954000	0.32549	0.997000	0.53966	0.801000	0.45260	2.111000	0.41883	1.687000	0.51057	0.543000	0.68304	GAG	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.537	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	73	0.00	0	C	NM_021009		125397564	125397564	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	G
UBC	7316	genome.wustl.edu	37	12	125397588	125397588	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr12:125397588C>G	ENST00000536769.1	-	1	2306	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.E168Q|UBC_ENST00000339647.5_Missense_Mutation_p.E244Q|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	244	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCGACCTCAAGGGTGATG	0.512																																						dbGAP											0													223.0	200.0	208.0					12																	125397588		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.730G>C	12.37:g.125397588C>G	ENSP00000441543:p.Glu244Gln		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.E244Q	ENST00000536769.1	37	c.730	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	-	17.24	3.338519	0.60963	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.80393	-1.1;-1.1;-1.1;-1.37	2.93	2.93	0.34026	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48767	U	0.000179	T	0.81384	0.4811	L	0.48174	1.505	0.80722	D	1	P;B;D	0.57899	0.892;0.08;0.981	P;B;P	0.54544	0.755;0.05;0.731	D	0.83452	0.0049	10	0.87932	D	0	.	11.8225	0.52247	0.0:1.0:0.0:0.0	.	333;244;244	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	Q	244;244;168;244;168;168	ENSP00000441543:E244Q;ENSP00000344818:E244Q;ENSP00000438394:E168Q;ENSP00000440205:E168Q	ENSP00000344818:E244Q	E	-	1	0	UBC	123963541	0.996000	0.38824	0.998000	0.56505	0.935000	0.57460	3.558000	0.53749	1.687000	0.51057	0.543000	0.68304	GAG	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	68	0.00	0	C	NM_021009		125397588	125397588	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	G
USP4	7375	genome.wustl.edu	37	3	49335319	49335319	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr3:49335319G>A	ENST00000265560.4	-	13	1721	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	USP4_ENST00000351842.4_Missense_Mutation_p.R512W|USP4_ENST00000488520.1_5'Flank	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	559	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ATGTCATCCCGAGGCATGATG	0.418																																						dbGAP											0													140.0	120.0	127.0					3																	49335319		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1675C>T	3.37:g.49335319G>A	ENSP00000265560:p.Arg559Trp		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.R559W	ENST00000265560.4	37	c.1675	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.308139|4.308139	0.81247|0.81247	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000351842;ENST00000265560|ENST00000431357	T;T|.	0.23950|.	1.88;2.02|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.099589|.	0.64402|.	D|.	0.000003|.	T|T	0.78426|0.78426	0.4281|0.4281	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.996;0.978;0.999|.	T|T	0.80540|0.80540	-0.1337|-0.1337	10|5	0.87932|.	D|.	0|.	-17.5922|-17.5922	12.4376|12.4376	0.55608|0.55608	0.0:0.0:0.7396:0.2603|0.0:0.0:0.7396:0.2603	.|.	512;559;559|.	Q13107-2;Q13107;Q08AK7|.	.;UBP4_HUMAN;.|.	W|L	512;559|297	ENSP00000341028:R512W;ENSP00000265560:R559W|.	ENSP00000265560:R559W|.	R|S	-|-	1|2	2|0	USP4|USP4	49310323|49310323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.782000|4.782000	0.62396|0.62396	2.768000|2.768000	0.95171|0.95171	0.650000|0.650000	0.86243|0.86243	CGG|TCG	USP4	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000114316		0.418	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	94	0.00	0	G	NM_199443		49335319	49335319	-1	no_errors	ENST00000265560	ensembl	human	known	69_37n	missense	65	20.73	17	SNP	0.986	A
USP47	55031	genome.wustl.edu	37	11	11979020	11979020	+	3'UTR	SNP	C	C	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr11:11979020C>A	ENST00000399455.2	+	0	5546				USP47_ENST00000339865.5_3'UTR|USP47_ENST00000305481.6_3'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		ATGCCAGATGCTGTTTACAAC	0.279																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.*1298C>A	11.37:g.11979020C>A			B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	RNA	SNP	-	NULL	ENST00000399455.2	37	NULL		11																																																																																			USP47	-	-	ENSG00000170242		0.279	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	78	0.00	0	C	NM_017944		11979020	11979020	+1	no_errors	ENST00000305481	ensembl	human	known	69_37n	rna	47	22.95	14	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22032270	22032270	+	Silent	SNP	G	G	A	rs530768144		TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:22032270G>A	ENST00000308271.9	-	19	2982	c.2334C>T	c.(2332-2334)caC>caT	p.H778H	USP48_ENST00000529637.1_Silent_p.H790H|USP48_ENST00000374732.3_Silent_p.H316H|USP48_ENST00000400301.1_Silent_p.H778H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	778	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGAGGCCCCCGTGGGGACACA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		14021	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													66.0	70.0	69.0					1																	22032270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2334C>T	1.37:g.22032270G>A			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.H778	ENST00000308271.9	37	c.2334	CCDS30623.1	1																																																																																			USP48	-	NULL	ENSG00000090686		0.403	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	50	0.00	0	G	NM_032236		22032270	22032270	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	0.852	A
ZC3H12A	80149	genome.wustl.edu	37	1	37947372	37947372	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr1:37947372G>A	ENST00000373087.6	+	4	870	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTCCAAGGCGAGCGGCAGGA	0.567																																						dbGAP											0													160.0	138.0	146.0					1																	37947372		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.754G>A	1.37:g.37947372G>A	ENSP00000362179:p.Glu252Lys			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.E252K	ENST00000373087.6	37	c.754	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.572257	0.96553	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44881	0.91	5.8	5.8	0.92144	Ribonuclease Zc3h12a-like (1);	0.046134	0.85682	D	0.000000	T	0.71204	0.3312	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.75363	-0.3344	10	0.62326	D	0.03	-41.8414	20.063	0.97692	0.0:0.0:1.0:0.0	.	252	Q5D1E8	ZC12A_HUMAN	K	252	ENSP00000362179:E252K	ENSP00000362174:E252K	E	+	1	0	ZC3H12A	37719959	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	7.912000	0.87465	2.735000	0.93741	0.655000	0.94253	GAG	ZC3H12A	-	pfam_RNase_Zc3h12	ENSG00000163874		0.567	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	46	0.00	0	G	NM_025079		37947372	37947372	+1	no_errors	ENST00000373082	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	1.000	A
ZNF410	57862	genome.wustl.edu	37	14	74358886	74358886	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr14:74358886C>T	ENST00000555044.1	+	2	202	c.8C>T	c.(7-9)tCa>tTa	p.S3L	ZNF410_ENST00000540593.1_Missense_Mutation_p.S3L|ZNF410_ENST00000556797.1_5'Flank|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.S3L|ZNF410_ENST00000334521.4_Intron|ZNF410_ENST00000442160.3_Missense_Mutation_p.S3L	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	3					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(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TCAATGTTATCAGATGAGTTA	0.393																																						dbGAP											0													164.0	160.0	161.0					14																	74358886		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.8C>T	14.37:g.74358886C>T	ENSP00000451763:p.Ser3Leu		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S3L	ENST00000555044.1	37	c.8	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.296272	0.95574	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000556160;ENST00000554797	T;T;T;T	0.24908	1.83;2.28;2.13;2.17	5.56	5.56	0.83823	.	0.000000	0.30869	N	0.008713	T	0.43322	0.1242	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.61697	0.981;0.99;0.989;0.981	D;D;D;D	0.75020	0.966;0.961;0.985;0.966	T	0.33085	-0.9882	10	0.87932	D	0	.	19.5451	0.95291	0.0:1.0:0.0:0.0	.	3;3;3;3	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	L	3	ENSP00000442228:S3L;ENSP00000323293:S3L;ENSP00000407130:S3L;ENSP00000451763:S3L	ENSP00000323293:S3L	S	+	2	0	ZNF410	73428639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.629000	0.89072	0.655000	0.94253	TCA	ZNF410	-	NULL	ENSG00000119725		0.393	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	120	0.00	0	C	NM_021188		74358886	74358886	+1	no_errors	ENST00000555044	ensembl	human	known	69_37n	missense	100	20.63	26	SNP	1.000	T
ZNF619	285267	genome.wustl.edu	37	3	40529166	40529166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr3:40529166C>T	ENST00000314686.5	+	6	1522	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	ZNF619_ENST00000456778.1_Nonsense_Mutation_p.Q345*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.Q429*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.Q429*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.Q389*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.Q380*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.Q389*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	373					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)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGTATTTCTTCAGCACCAGAG	0.448																																						dbGAP											0													63.0	67.0	66.0					3																	40529166		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1117C>T	3.37:g.40529166C>T	ENSP00000322529:p.Gln373*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_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.Q429*	ENST00000314686.5	37	c.1285		3	.	.	.	.	.	.	.	.	.	.	C	19.09	3.758933	0.69763	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.44	2.44	0.29823	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.5074	0.22202	0.2879:0.7121:0.0:0.0	.	.	.	.	X	373;429;389;345;380;429;389	.	ENSP00000322529:Q373X	Q	+	1	0	ZNF619	40504170	0.000000	0.05858	0.677000	0.29947	0.383000	0.30230	-0.195000	0.09546	1.376000	0.46267	0.563000	0.77884	CAG	ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177873		0.448	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	45	0.00	0	C	NM_173656		40529166	40529166	+1	no_errors	ENST00000447116	ensembl	human	known	69_37n	nonsense	35	27.08	13	SNP	0.013	T
ZNF790	388536	genome.wustl.edu	37	19	37309377	37309377	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr19:37309377C>G	ENST00000356725.4	-	5	1989	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	623					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAATGCTTTCTCAAAATCTT	0.318																																						dbGAP											0													48.0	53.0	51.0					19																	37309377		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1869G>C	19.37:g.37309377C>G	ENSP00000349161:p.Glu623Asp			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.E623D	ENST00000356725.4	37	c.1869	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449879	0.43531	.	.	ENSG00000197863	ENST00000356725	T	0.14516	2.5	3.18	-2.08	0.07254	.	.	.	.	.	T	0.07683	0.0193	N	0.16166	0.38	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35500	-0.9786	9	0.54805	T	0.06	.	9.0378	0.36298	0.0:0.5981:0.3055:0.0964	.	623	Q6PG37	ZN790_HUMAN	D	623	ENSP00000349161:E623D	ENSP00000349161:E623D	E	-	3	2	ZNF790	42001217	0.002000	0.14202	0.000000	0.03702	0.283000	0.27025	0.199000	0.17237	-0.144000	0.11314	0.591000	0.81541	GAG	ZNF790	-	NULL	ENSG00000197863		0.318	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	93	0.00	0	C	NM_206894		37309377	37309377	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	49	22.73	15	SNP	0.010	G
ZNF790	388536	genome.wustl.edu	37	19	37309555	37309555	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QI-01A-12D-A19Y-09	TCGA-AC-A2QI-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	97840e8f-a4b6-45a8-abe4-592475224e7b	c7936190-316a-4fbd-9d93-6867e49fe6b6	g.chr19:37309555C>T	ENST00000356725.4	-	5	1811	c.1691G>A	c.(1690-1692)tGc>tAc	p.C564Y	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	564					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTTTTCTTGCATCCATAAGG	0.368																																						dbGAP											0													100.0	101.0	101.0					19																	37309555		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1691G>A	19.37:g.37309555C>T	ENSP00000349161:p.Cys564Tyr			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.C564Y	ENST00000356725.4	37	c.1691	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005156	0.07866	.	.	ENSG00000197863	ENST00000356725	T	0.72394	-0.65	3.18	0.964	0.19655	.	.	.	.	.	T	0.69115	0.3075	M	0.80746	2.51	0.24222	N	0.995431	B	0.24882	0.113	B	0.23419	0.046	T	0.63056	-0.6722	9	0.72032	D	0.01	.	7.9612	0.30072	0.0:0.7837:0.0:0.2163	.	564	Q6PG37	ZN790_HUMAN	Y	564	ENSP00000349161:C564Y	ENSP00000349161:C564Y	C	-	2	0	ZNF790	42001395	0.216000	0.23585	0.479000	0.27329	0.253000	0.25986	1.089000	0.30890	0.198000	0.20407	-0.229000	0.12294	TGC	ZNF790	-	NULL	ENSG00000197863		0.368	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	23	0.00	0	C	NM_206894		37309555	37309555	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.413	T
