#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANKRD52	283373	genome.wustl.edu	37	12	56638218	56638218	+	Splice_Site	SNP	T	T	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr12:56638218T>A	ENST00000267116.7	-	25	2845	c.2724A>T	c.(2722-2724)gaA>gaT	p.E908D	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	908										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ACAGCAGAAATTCTACGAGAG	0.517																																						dbGAP											0													68.0	66.0	67.0					12																	56638218		1977	4160	6137	-	-	-	SO:0001630	splice_region_variant	0			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2723-1A>T	12.37:g.56638218T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE79|B1Q2K2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E908D	ENST00000267116.7	37	c.2724	CCDS44920.1	12	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937826	0.34189	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66638	-0.22	4.4	3.25	0.37280	Ankyrin repeat-containing domain (4);	0.125474	0.53938	D	0.000045	T	0.59569	0.2203	M	0.64567	1.98	0.80722	D	1	B	0.19935	0.04	B	0.26864	0.074	T	0.56269	-0.8007	10	0.40728	T	0.16	.	5.7446	0.18112	0.0:0.2793:0.0:0.7207	.	908	Q8NB46	ANR52_HUMAN	D	908	ENSP00000267116:E908D	ENSP00000267116:E908D	E	-	3	2	ANKRD52	54924485	0.967000	0.33354	1.000000	0.80357	0.563000	0.35712	-0.012000	0.12699	1.013000	0.39391	-0.290000	0.09829	GAA	ANKRD52	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000139645		0.517	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	34	0.00	0	T	NM_173595	Missense_Mutation	56638218	56638218	-1	no_errors	ENST00000267116	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	A
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000377867.3_Intron			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	13	0.00	0	AG	NM_080871		150884267	150884268	-1	no_errors	ENST00000422024	ensembl	human	known	69_37n	frame_shift_del	16	15.79	3	DEL	0.003:0.000	-
CARD8	22900	genome.wustl.edu	37	19	48737790	48737790	+	5'UTR	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr19:48737790C>T	ENST00000359009.4	-	0	258				CARD8_ENST00000520753.1_Missense_Mutation_p.E74K|CARD8_ENST00000520015.1_Missense_Mutation_p.E74K|CARD8_ENST00000519940.1_Missense_Mutation_p.E74K|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.E24K|CARD8_ENST00000391898.3_Missense_Mutation_p.E74K|CARD8_ENST00000521613.1_Missense_Mutation_p.E24K|CARD8_ENST00000447740.2_Missense_Mutation_p.E24K			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CAGGGTAGCTCCCTGTATACC	0.413																																						dbGAP											0													89.0	76.0	80.0					19																	48737790		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.-55G>A	19.37:g.48737790C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.E74K	ENST00000359009.4	37	c.220		19	.	.	.	.	.	.	.	.	.	.	C	4.224	0.040526	0.08196	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940;ENST00000522889	T;T;T;T;T;T;T	0.19394	2.5;2.42;2.15;2.5;2.15;2.5;2.42	1.1	-2.19	0.07015	.	.	.	.	.	T	0.08802	0.0218	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.14012	0.002;0.009;0.001	B;B;B	0.06405	0.001;0.002;0.0	T	0.24154	-1.0168	9	0.87932	D	0	.	3.1636	0.06528	0.0:0.3876:0.2391:0.3733	.	74;74;24	E9PEM7;Q9Y2G2-3;G3XAM9	.;.;.	K	24;74;74;24;74;24;74;24	ENSP00000391248:E24K;ENSP00000375767:E74K;ENSP00000429839:E74K;ENSP00000428736:E24K;ENSP00000430747:E74K;ENSP00000427858:E24K;ENSP00000428883:E74K	ENSP00000375767:E74K	E	-	1	0	CARD8	53429602	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.535000	0.06142	-1.581000	0.01642	-0.688000	0.03733	GAG	CARD8	-	NULL	ENSG00000105483		0.413	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		33	0.00	0	C	NM_014959		48737790	48737790	-1	no_errors	ENST00000391898	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.000	T
CDC6	990	genome.wustl.edu	37	17	38450220	38450220	+	Silent	SNP	G	G	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr17:38450220G>A	ENST00000209728.4	+	6	1326	c.855G>A	c.(853-855)gaG>gaA	p.E285E		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	285					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TATTGGACGAGATGGATCAAC	0.408																																						dbGAP											0													308.0	267.0	281.0					17																	38450220		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.855G>A	17.37:g.38450220G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB30	Silent	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6	p.E285	ENST00000209728.4	37	c.855	CCDS11365.1	17																																																																																			CDC6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6	ENSG00000094804		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	84	0.00	0	G			38450220	38450220	+1	no_errors	ENST00000209728	ensembl	human	known	69_37n	silent	618	13.57	97	SNP	1.000	A
DLX6	1750	genome.wustl.edu	37	7	96635680	96635680	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr7:96635680T>A	ENST00000518156.2	+	1	821	c.391T>A	c.(391-393)Tac>Aac	p.Y131N	DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.Y103N|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	13					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCTCCAGTCCTACCACAACAG	0.692																																						dbGAP											0													18.0	26.0	23.0					7																	96635680		2131	4198	6329	-	-	-	SO:0001583	missense	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.391T>A	7.37:g.96635680T>A	ENSP00000428480:p.Tyr131Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain	p.Y131N	ENST00000518156.2	37	c.391	CCDS47647.2	7	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055462	0.55325	.	.	ENSG00000006377	ENST00000518156;ENST00000007660	D;D	0.92149	-2.98;-2.92	3.11	3.11	0.35812	.	1.020880	0.07805	U	0.957183	D	0.92984	0.7767	M	0.79693	2.465	0.80722	D	1	P	0.35745	0.518	B	0.41619	0.361	D	0.87792	0.2619	10	0.34782	T	0.22	-1.0398	10.9593	0.47376	0.0:0.0:0.0:1.0	.	103	P56179-2	.	N	131;103	ENSP00000428480:Y131N;ENSP00000007660:Y103N	ENSP00000007660:Y103N	Y	+	1	0	DLX6	96473616	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.938000	0.75904	1.415000	0.47037	0.459000	0.35465	TAC	DLX6	-	NULL	ENSG00000006377		0.692	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4	25	0.00	0	T	NM_005222		96635680	96635680	+1	no_errors	ENST00000518156	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
CTTNBP2	83992	genome.wustl.edu	37	7	117431492	117431492	+	Silent	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr7:117431492C>T	ENST00000160373.3	-	4	1849	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	586					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAAGGAGTCGAAGCCACAG	0.498																																						dbGAP											0													85.0	87.0	86.0					7																	117431492		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1758G>A	7.37:g.117431492C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D115N	ENST00000160373.3	37	c.343	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	C	5.752	0.323255	0.10900	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.74	-4.92	0.03075	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55761	-0.8090	4	.	.	.	-3.5366	11.3489	0.49577	0.088:0.166:0.0:0.746	.	.	.	.	N	115	.	.	D	-	1	0	CTTNBP2	117218728	0.702000	0.27816	0.905000	0.35620	0.876000	0.50452	-0.484000	0.06528	-0.879000	0.04002	-0.251000	0.11542	GAC	CTTNBP2	-	NULL	ENSG00000077063		0.498	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	72	0.00	0	C	NM_033427		117431492	117431492	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446636	ensembl	human	novel	69_37n	missense	41	19.61	10	SNP	0.893	T
CNTNAP2	26047	genome.wustl.edu	37	7	147600694	147600694	+	Silent	SNP	C	C	T	rs187552025	byFrequency	TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr7:147600694C>T	ENST00000361727.3	+	14	2652	c.2136C>T	c.(2134-2136)aaC>aaT	p.N712N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	712	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.N712I(1)|p.N712K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAAAGCCAACGAGAAGCACT	0.502										HNSCC(39;0.1)			c|||	2	0.000399361	0.0008	0.0014	5008	,	,		19337	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	lung(2)											71.0	66.0	67.0					7																	147600694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2136C>T	7.37:g.147600694C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N712	ENST00000361727.3	37	c.2136	CCDS5889.1	7																																																																																			CNTNAP2	-	NULL	ENSG00000174469		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	25	0.00	0	C			147600694	147600694	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	0.792	T
DNAH5	1767	genome.wustl.edu	37	5	13901632	13901632	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr5:13901632T>A	ENST00000265104.4	-	14	1885	c.1781A>T	c.(1780-1782)gAg>gTg	p.E594V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	594	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCATAGTTCTCAAGGATAAG	0.333									Kartagener syndrome																													dbGAP											0													57.0	55.0	56.0					5																	13901632		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1781A>T	5.37:g.13901632T>A	ENSP00000265104:p.Glu594Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E594V	ENST00000265104.4	37	c.1781	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211080	0.39102	.	.	ENSG00000039139	ENST00000265104	T	0.58210	0.35	5.39	4.2	0.49525	Dynein heavy chain, domain-1 (1);	0.298586	0.36338	N	0.002645	T	0.44286	0.1286	L	0.42245	1.32	0.29012	N	0.886787	B	0.02656	0.0	B	0.14023	0.01	T	0.34800	-0.9814	10	0.30078	T	0.28	.	12.7849	0.57498	0.0:0.0:0.137:0.863	.	594	Q8TE73	DYH5_HUMAN	V	594	ENSP00000265104:E594V	ENSP00000265104:E594V	E	-	2	0	DNAH5	13954632	1.000000	0.71417	0.916000	0.36221	0.994000	0.84299	3.245000	0.51407	0.968000	0.38212	0.482000	0.46254	GAG	DNAH5	-	pfam_Dynein_heavy_dom-1	ENSG00000039139		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	44	0.00	0	T	NM_001369		13901632	13901632	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	1.000	A
FAM171A1	221061	genome.wustl.edu	37	10	15255282	15255282	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr10:15255282C>T	ENST00000378116.4	-	8	2311	c.2305G>A	c.(2305-2307)Gtc>Atc	p.V769I	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	769						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCTCTTGGACGGGCGGGTAG	0.552																																						dbGAP											0													100.0	68.0	79.0					10																	15255282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2305G>A	10.37:g.15255282C>T	ENSP00000367356:p.Val769Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.V769I	ENST00000378116.4	37	c.2305	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	8.894	0.954600	0.18431	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.29397	1.57	5.25	4.33	0.51752	.	0.295141	0.31721	N	0.007163	T	0.26448	0.0646	L	0.44542	1.39	0.32283	N	0.567346	B	0.28026	0.198	B	0.19148	0.024	T	0.23119	-1.0197	10	0.31617	T	0.26	-12.2342	15.6342	0.76937	0.0:0.8576:0.1424:0.0	.	769	Q5VUB5	F1711_HUMAN	I	769;768	ENSP00000367356:V769I	ENSP00000367356:V769I	V	-	1	0	FAM171A1	15295288	0.360000	0.24964	0.765000	0.31456	0.179000	0.23085	1.583000	0.36579	1.400000	0.46741	0.563000	0.77884	GTC	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	16	0.00	0	C	XM_167709		15255282	15255282	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	0.819	T
HLA-DRB1	3123	genome.wustl.edu	37	6	32549481	32549481	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr6:32549481C>T	ENST00000360004.5	-	3	610	c.505G>A	c.(505-507)Gct>Act	p.A169T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	169	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ACCATCCCAGCCTTCTCTTCC	0.562										Multiple Myeloma(14;0.17)																												dbGAP											0													88.0	106.0	100.0					6																	32549481		1511	2709	4220	-	-	-	SO:0001583	missense	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.505G>A	6.37:g.32549481C>T	ENSP00000353099:p.Ala169Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.A169T	ENST00000360004.5	37	c.505	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	4.123	0.021020	0.08006	.	.	ENSG00000196126	ENST00000360004	T	0.02812	4.15	3.87	2.02	0.26589	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.596257	0.17732	N	0.163842	T	0.04363	0.0120	.	.	.	0.80722	P	0.0	D	0.64830	0.994	D	0.79784	0.993	T	0.37291	-0.9712	8	0.32370	T	0.25	.	8.5729	0.33581	0.0:0.7959:0.0:0.2041	rs2308768;rs9269803;rs17841954;rs17856141	169	P01911	2B1F_HUMAN	T	169	ENSP00000353099:A169T	ENSP00000353099:A169T	A	-	1	0	HLA-DRB1	32657459	0.000000	0.05858	0.060000	0.19600	0.252000	0.25951	0.162000	0.16501	0.226000	0.20979	-0.476000	0.04901	GCT	HLA-DRB1	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000196126		0.562	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	39	0.00	0	C	NM_002124		32549481	32549481	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	missense	22	12.00	3	SNP	0.016	T
FNDC1	84624	genome.wustl.edu	37	6	159621606	159621606	+	Silent	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr6:159621606C>T	ENST00000297267.9	+	4	653	c.453C>T	c.(451-453)acC>acT	p.T151T	FNDC1_ENST00000340366.6_Silent_p.T151T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	151					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTAATGAAACCGTCACAGGTA	0.433																																						dbGAP											0													83.0	84.0	84.0					6																	159621606		1992	4162	6154	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.453C>T	6.37:g.159621606C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R110C	ENST00000297267.9	37	c.328	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295057	0.23564	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.66096	0.2755	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62932	-0.6749	4	.	.	.	-15.4498	16.1594	0.81686	0.0:1.0:0.0:0.0	.	.	.	.	C	110	.	.	R	+	1	0	FNDC1	159541594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.333000	0.33816	2.885000	0.99019	0.655000	0.94253	CGT	FNDC1	-	NULL	ENSG00000164694		0.433	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	58	0.00	0	C	NM_032532		159621606	159621606	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000329629	ensembl	human	novel	69_37n	missense	34	20.93	9	SNP	0.998	T
KIAA1429	25962	genome.wustl.edu	37	8	95500985	95500985	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr8:95500985A>C	ENST00000297591.5	-	24	5463	c.5388T>G	c.(5386-5388)ttT>ttG	p.F1796L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1796					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTCCACTAACAAACTTTCCTC	0.502																																						dbGAP											0													192.0	167.0	175.0					8																	95500985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5388T>G	8.37:g.95500985A>C	ENSP00000297591:p.Phe1796Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F1796L	ENST00000297591.5	37	c.5388	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421771	0.62622	.	.	ENSG00000164944	ENST00000297591	T	0.44881	0.91	5.41	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	N	0.24115	0.695	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.14783	-1.0460	10	0.32370	T	0.25	-20.1429	8.7346	0.34521	0.8199:0.0:0.1801:0.0	.	1796	Q69YN4	VIR_HUMAN	L	1796	ENSP00000297591:F1796L	ENSP00000297591:F1796L	F	-	3	2	KIAA1429	95570161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.369000	0.34227	0.351000	0.24027	0.533000	0.62120	TTT	KIAA1429	-	NULL	ENSG00000164944		0.502	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	107	0.00	0	A	NM_015496		95500985	95500985	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	missense	120	17.81	26	SNP	1.000	C
MYH14	79784	genome.wustl.edu	37	19	50764750	50764750	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr19:50764750G>T	ENST00000596571.1	+	18	2320	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y	MYH14_ENST00000425460.1_Missense_Mutation_p.D782Y|MYH14_ENST00000376970.2_Missense_Mutation_p.D807Y|MYH14_ENST00000598205.1_Missense_Mutation_p.D782Y|MYH14_ENST00000440075.2_Missense_Mutation_p.D815Y|MYH14_ENST00000601313.1_Missense_Mutation_p.D815Y|MYH14_ENST00000262269.8_Missense_Mutation_p.D815Y			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	774	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGAACTGGACCCCAACCT	0.637																																						dbGAP											0													41.0	44.0	43.0					19																	50764750		1997	4165	6162	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2320G>T	19.37:g.50764750G>T	ENSP00000472819:p.Asp774Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D815Y	ENST00000596571.1	37	c.2443	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164365	0.78339	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	4.48	4.48	0.54585	Myosin head, motor domain (2);	.	.	.	.	D	0.97309	0.9120	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	D	0.98444	1.0588	9	0.87932	D	0	.	15.0404	0.71785	0.0:0.0:1.0:0.0	.	815;774;782	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Y	774;815;807;782;774;815	ENSP00000406273:D815Y;ENSP00000366169:D807Y;ENSP00000407879:D782Y;ENSP00000262269:D815Y	ENSP00000262269:D815Y	D	+	1	0	MYH14	55456562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.327000	0.96396	2.508000	0.84585	0.555000	0.69702	GAC	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.637	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	11	0.00	0	G	NM_024729		50764750	50764750	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139390870	139390870	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr9:139390870C>T	ENST00000277541.6	-	34	7396	c.7321G>A	c.(7321-7323)Gca>Aca	p.A2441T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2441					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCACGTCTGCCTGGCTCGGC	0.711			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												dbGAP		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													16.0	18.0	17.0					9																	139390870		2113	4230	6343	-	-	-	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7321G>A	9.37:g.139390870C>T	ENSP00000277541:p.Ala2441Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59ED8|Q5SXM3	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A2441T	ENST00000277541.6	37	c.7321	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	1.688	-0.504827	0.04261	.	.	ENSG00000148400	ENST00000277541	D	0.81908	-1.55	5.23	3.27	0.37495	.	0.311124	0.34386	N	0.004007	T	0.61476	0.2350	N	0.14661	0.345	0.28463	N	0.915782	B	0.12013	0.005	B	0.09377	0.004	T	0.41142	-0.9525	10	0.13853	T	0.58	.	3.5664	0.07901	0.1452:0.5251:0.236:0.0937	.	2441	P46531	NOTC1_HUMAN	T	2441	ENSP00000277541:A2441T	ENSP00000277541:A2441T	A	-	1	0	NOTCH1	138510691	1.000000	0.71417	0.996000	0.52242	0.054000	0.15201	1.182000	0.32029	2.604000	0.88044	0.563000	0.77884	GCA	NOTCH1	-	pirsf_Notch	ENSG00000148400		0.711	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	47	0.00	0	C	NM_017617		139390870	139390870	-1	no_errors	ENST00000277541	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	T
PCDHB15	56121	genome.wustl.edu	37	5	140626710	140626710	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr5:140626710G>A	ENST00000231173.3	+	1	1564	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTGCA	0.692																																						dbGAP											0													74.0	85.0	81.0					5																	140626710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1564G>A	5.37:g.140626710G>A	ENSP00000231173:p.Glu522Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E522K	ENST00000231173.3	37	c.1564	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146172	0.77888	.	.	ENSG00000113248	ENST00000231173	T	0.72394	-0.65	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.91412	0.7290	H	0.99590	4.645	0.41674	D	0.989258	D	0.89917	1.0	D	0.97110	1.0	D	0.95583	0.8648	9	0.87932	D	0	.	17.502	0.87734	0.0:0.0:1.0:0.0	.	522	Q9Y5E8	PCDBF_HUMAN	K	522	ENSP00000231173:E522K	ENSP00000231173:E522K	E	+	1	0	PCDHB15	140606894	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.398000	0.79919	2.308000	0.77769	0.485000	0.47835	GAG	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113248		0.692	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	38	0.00	0	G	NM_018935		140626710	140626710	+1	no_errors	ENST00000231173	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	A
PLCH1	23007	genome.wustl.edu	37	3	155241748	155241748	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr3:155241748C>T	ENST00000340059.7	-	10	1371	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	PLCH1_ENST00000460012.1_Missense_Mutation_p.E440K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E440K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E440K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E458K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E458K	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	458					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGAAACTTCCCCTTCCTCT	0.383																																						dbGAP											0													261.0	241.0	247.0					3																	155241748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1372G>A	3.37:g.155241748C>T	ENSP00000345988:p.Glu458Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E458K	ENST00000340059.7	37	c.1372	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.631922	0.96682	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.48	5.48	0.80851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.216132	0.47093	D	0.000260	T	0.65375	0.2685	M	0.72894	2.215	0.80722	D	1	D;D;P	0.58268	0.982;0.969;0.538	P;P;P	0.58266	0.836;0.69;0.492	T	0.63825	-0.6549	10	0.39692	T	0.17	.	19.3537	0.94402	0.0:1.0:0.0:0.0	.	440;458;458	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	K	458;440;458;458;440;440	ENSP00000419100:E458K;ENSP00000417502:E440K;ENSP00000402759:E458K;ENSP00000345988:E458K;ENSP00000335469:E440K;ENSP00000412977:E440K	ENSP00000335469:E440K	E	-	1	0	PLCH1	156724442	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.380000	0.79704	2.563000	0.86464	0.563000	0.77884	GAA	PLCH1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000114805		0.383	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	79	0.00	0	C	NM_014996		155241748	155241748	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	T
RASAL3	64926	genome.wustl.edu	37	19	15565071	15565071	+	Missense_Mutation	SNP	C	C	T	rs201283291		TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr19:15565071C>T	ENST00000343625.7	-	14	2253	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	723					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGGGTGTCTCGGGTTGTCTG	0.612											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		17841	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													33.0	40.0	38.0					19																	15565071		2148	4254	6402	-	-	-	SO:0001583	missense	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2168G>A	19.37:g.15565071C>T	ENSP00000341905:p.Arg723Gln	Somatic	703	WXS	Illumina GAIIx	Phase_IV	Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.R723Q	ENST00000343625.7	37	c.2168	CCDS46006.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.04	2.117382	0.37339	.	.	ENSG00000105122	ENST00000343625	D	0.82433	-1.61	5.67	3.14	0.36123	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	.	.	.	.	T	0.64864	0.2637	N	0.04994	-0.135	0.09310	N	1	B;B	0.18968	0.032;0.008	B;B	0.12837	0.008;0.002	T	0.54886	-0.8226	9	0.38643	T	0.18	.	8.2784	0.31885	0.0:0.7342:0.0:0.2658	.	723;723	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	Q	723	ENSP00000341905:R723Q	ENSP00000341905:R723Q	R	-	2	0	RASAL3	15426071	0.002000	0.14202	0.850000	0.33497	0.745000	0.42441	0.652000	0.24888	1.373000	0.46208	0.655000	0.94253	CGA	RASAL3	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000105122		0.612	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	34	0.00	0	C	NM_022904		15565071	15565071	-1	no_errors	ENST00000343625	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.034	T
RTN2	6253	genome.wustl.edu	37	19	45997940	45997940	+	Missense_Mutation	SNP	G	G	A	rs570062973		TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr19:45997940G>A	ENST00000245923.4	-	3	638	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.R135C|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	135					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCCAGAGGGCGCTCGGATGGA	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14611	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													48.0	55.0	53.0					19																	45997940		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.403C>T	19.37:g.45997940G>A	ENSP00000245923:p.Arg135Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R135C	ENST00000245923.4	37	c.403	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542776	0.45280	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.55413	0.59;0.52	5.58	3.33	0.38152	.	0.412390	0.21011	N	0.081687	T	0.48714	0.1515	L	0.27053	0.805	0.19300	N	0.999974	D;B	0.71674	0.998;0.004	P;B	0.56474	0.799;0.001	T	0.29181	-1.0020	10	0.52906	T	0.07	-4.3138	6.9322	0.24447	0.0928:0.1759:0.7313:0.0	.	135;135	O75298-2;O75298	.;RTN2_HUMAN	C	135	ENSP00000345127:R135C;ENSP00000245923:R135C	ENSP00000245923:R135C	R	-	1	0	RTN2	50689780	0.967000	0.33354	0.017000	0.16124	0.228000	0.25075	1.325000	0.33724	1.360000	0.45960	0.563000	0.77884	CGC	RTN2	-	NULL	ENSG00000125744		0.682	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	30	0.00	0	G	NM_005619		45997940	45997940	-1	no_errors	ENST00000245923	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.003	A
RUNX1	861	genome.wustl.edu	37	21	36206874	36206874	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr21:36206874delT	ENST00000344691.4	-	4	2134	c.557delA	c.(556-558)cagfs	p.Q186fs	RUNX1_ENST00000325074.5_Frame_Shift_Del_p.Q201fs|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.Q213fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.Q213fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.Q186fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	186					behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGCTTGGTCTGATCATCTAG	0.607			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													57.0	62.0	60.0					21																	36206874		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.557delA	21.37:g.36206874delT	ENSP00000340690:p.Gln186fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Del	DEL	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.Q213fs	ENST00000344691.4	37	c.638	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.607	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	38	0.00	0	T			36206874	36206874	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_del	22	33.33	11	DEL	1.000	-
SLC29A3	55315	genome.wustl.edu	37	10	73111334	73111334	+	Silent	SNP	C	C	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr10:73111334C>A	ENST00000373189.5	+	4	451	c.399C>A	c.(397-399)atC>atA	p.I133I		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	133					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CAGTCCACATCCGTGTCCTGG	0.597																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	dbGAP											0													159.0	124.0	135.0					10																	73111334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.399C>A	10.37:g.73111334C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.I133	ENST00000373189.5	37	c.399	CCDS7310.1	10																																																																																			SLC29A3	-	NULL	ENSG00000198246		0.597	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	41	0.00	0	C	NM_018344		73111334	73111334	+1	no_errors	ENST00000373189	ensembl	human	known	69_37n	silent	46	37.84	28	SNP	0.999	A
SLC29A3	55315	genome.wustl.edu	37	10	73115895	73115895	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr10:73115895C>A	ENST00000373189.5	+	5	720	c.668C>A	c.(667-669)tCc>tAc	p.S223Y	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	223					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TTGGCTGCATCCAGTGATGTG	0.622																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	dbGAP											0													177.0	130.0	146.0					10																	73115895		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.668C>A	10.37:g.73115895C>A	ENSP00000362285:p.Ser223Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.S223Y	ENST00000373189.5	37	c.668	CCDS7310.1	10	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303403	0.40795	.	.	ENSG00000198246	ENST00000373189	T	0.63913	-0.07	4.64	4.64	0.57946	.	0.346810	0.26654	N	0.023181	T	0.67154	0.2863	M	0.80847	2.515	0.38478	D	0.947643	B	0.26318	0.146	B	0.33121	0.158	T	0.71337	-0.4623	9	0.31617	T	0.26	-37.711	15.8873	0.79261	0.0:1.0:0.0:0.0	.	223	Q9BZD2	S29A3_HUMAN	Y	223	ENSP00000362285:S223Y	ENSP00000362285:S223Y	S	+	2	0	SLC29A3	72785901	0.999000	0.42202	0.687000	0.30102	0.006000	0.05464	5.362000	0.66098	2.420000	0.82092	0.563000	0.77884	TCC	SLC29A3	-	pfam_Eqnu_transpt,prints_Eqnu_transpt	ENSG00000198246		0.622	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	44	0.00	0	C	NM_018344		73115895	73115895	+1	no_errors	ENST00000373189	ensembl	human	known	69_37n	missense	67	34.31	35	SNP	0.324	A
SPTAN1	6709	genome.wustl.edu	37	9	131374449	131374450	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr9:131374449_131374450GC>AG	ENST00000372731.4	+	38	5062_5063	c.4952_4953GC>AG	c.(4951-4953)aGC>aAG	p.S1651K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.S1656K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S1656K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1651					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGGAAAAGAGCCAGAAACTGA	0.5																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	Exception_encountered	9.37:g.131374449_131374450delinsAG	ENSP00000361816:p.Ser1651Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.S1656N|p.S1656R	ENST00000372731.4	37	c.4967|c.4968	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.500	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	53|50	0.00	0	G|C	NM_003127		131374449|131374450	131374449|131374450	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	22|23	46.34|45.24	19	SNP	1.000	A|G
SYNPO	11346	genome.wustl.edu	37	5	150029320	150029320	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr5:150029320G>A	ENST00000394243.1	+	3	2589	c.2215G>A	c.(2215-2217)Gtc>Atc	p.V739I	SYNPO_ENST00000519664.1_Missense_Mutation_p.V495I|SYNPO_ENST00000307662.4_Missense_Mutation_p.V495I|SYNPO_ENST00000522122.1_Missense_Mutation_p.V739I	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	739					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAAATATGTCATCGAGTC	0.627																																						dbGAP											0													56.0	69.0	65.0					5																	150029320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2215G>A	5.37:g.150029320G>A	ENSP00000377789:p.Val739Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.V739I	ENST00000394243.1	37	c.2215	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172999	0.57584	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.39787	1.06;1.06;1.12	5.06	5.06	0.68205	.	0.000000	0.43579	D	0.000541	T	0.47764	0.1463	L	0.46885	1.475	0.41804	D	0.989934	P;P	0.51537	0.884;0.946	P;P	0.52646	0.487;0.705	T	0.47315	-0.9127	10	0.52906	T	0.07	-26.8655	12.8384	0.57786	0.0813:0.0:0.9187:0.0	.	495;739	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	I	739;739;495;495	ENSP00000377789:V739I;ENSP00000428378:V739I;ENSP00000429268:V495I	ENSP00000302139:V495I	V	+	1	0	SYNPO	150009513	1.000000	0.71417	0.985000	0.45067	0.860000	0.49131	5.694000	0.68272	2.363000	0.80096	0.462000	0.41574	GTC	SYNPO	-	NULL	ENSG00000171992		0.627	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	20	0.00	0	G	NM_007286		150029320	150029320	+1	no_errors	ENST00000394243	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.993	A
SYT3	84258	genome.wustl.edu	37	19	51129221	51129221	+	Silent	SNP	G	G	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr19:51129221G>A	ENST00000338916.4	-	5	1968	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	SYT3_ENST00000593901.1_Silent_p.A445A|SYT3_ENST00000600079.1_Silent_p.A445A|SYT3_ENST00000544769.1_Silent_p.A445A	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	445	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGCGCCCGGCCGTGGGGA	0.582																																						dbGAP											0													95.0	83.0	87.0					19																	51129221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1335C>T	19.37:g.51129221G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.A445	ENST00000338916.4	37	c.1335	CCDS12798.1	19																																																																																			SYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_C2_membr_targeting	ENSG00000213023		0.582	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	46	0.00	0	G	NM_032298		51129221	51129221	-1	no_errors	ENST00000338916	ensembl	human	known	69_37n	silent	30	11.76	4	SNP	0.916	A
TADA2A	6871	genome.wustl.edu	37	17	35822222	35822222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr17:35822222C>T	ENST00000394395.2	+	10	882	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	TADA2A_ENST00000225396.6_Nonsense_Mutation_p.Q237*|TADA2A_ENST00000417170.1_Nonsense_Mutation_p.Q237*|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Nonsense_Mutation_p.Q237*	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	237					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TAGAAAGTTTCAATGTAAGTA	0.244																																						dbGAP											0													59.0	65.0	63.0					17																	35822222		2197	4296	6493	-	-	-	SO:0001587	stop_gained	0			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.709C>T	17.37:g.35822222C>T	ENSP00000377918:p.Gln237*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Nonsense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.Q237*	ENST00000394395.2	37	c.709	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.747681	0.98468	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	.	.	.	5.71	5.71	0.89125	.	0.106790	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-8.8464	19.8506	0.96738	0.0:1.0:0.0:0.0	.	.	.	.	X	237;136;237;237	.	ENSP00000225396:Q237X	Q	+	1	0	TADA2A	32896335	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.344000	0.65981	2.686000	0.91538	0.655000	0.94253	CAA	TADA2A	-	pirsf_Transcriptional_adaptor_2	ENSG00000108264		0.244	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	78	0.00	0	C	NM_001488		35822222	35822222	+1	no_errors	ENST00000225396	ensembl	human	known	69_37n	nonsense	59	26.25	21	SNP	1.000	T
TNR	7143	genome.wustl.edu	37	1	175323569	175323569	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr1:175323569C>T	ENST00000367674.2	-	18	4048	c.3340G>A	c.(3340-3342)Gac>Aac	p.D1114N	TNR_ENST00000263525.2_Missense_Mutation_p.D1114N			Q92752	TENR_HUMAN	tenascin R	1114	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.D1114N(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACGTGGTGTCCTGTGCTGCC	0.547																																						dbGAP											1	Substitution - Missense(1)	skin(1)											178.0	135.0	149.0					1																	175323569		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3340G>A	1.37:g.175323569C>T	ENSP00000356646:p.Asp1114Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.D1114N	ENST00000367674.2	37	c.3340	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	7.734	0.699863	0.15106	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56941	0.43;0.43	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.185170	0.46758	D	0.000264	T	0.29588	0.0738	N	0.11927	0.2	0.30172	N	0.801191	B	0.02656	0.0	B	0.08055	0.003	T	0.15838	-1.0423	10	0.18710	T	0.47	.	7.2773	0.26292	0.0:0.791:0.0:0.209	.	1114	Q92752	TENR_HUMAN	N	1114;1114;1024	ENSP00000356646:D1114N;ENSP00000263525:D1114N	ENSP00000263525:D1114N	D	-	1	0	TNR	173590192	1.000000	0.71417	0.980000	0.43619	0.071000	0.16799	3.592000	0.53993	2.482000	0.83794	0.650000	0.86243	GAC	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	72	0.00	0	C	NM_003285		175323569	175323569	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	missense	82	11.83	11	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7579315	7579315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr17:7579315G>T	ENST00000269305.4	-	4	561	c.372C>A	c.(370-372)tgC>tgA	p.C124*	TP53_ENST00000359597.4_Nonsense_Mutation_p.C124*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C124*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C124*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C124*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C124*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGACCGTGCAAGTCACAG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	21	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)											66.0	61.0	63.0					17																	7579315		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.372C>A	17.37:g.7579315G>T	ENSP00000269305:p.Cys124*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C124*	ENST00000269305.4	37	c.372	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.183644	0.94885	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	3.77	0.43336	.	0.099990	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7577	13.0886	0.59154	0.0:0.1626:0.8374:0.0	.	.	.	.	X	124;124;124;124;124;124;113;124;124	.	ENSP00000269305:C124X	C	-	3	2	TP53	7520040	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.834000	0.27518	1.343000	0.45638	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	11	0.00	0	G	NM_000546		7579315	7579315	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	6	50.00	6	SNP	1.000	T
TRA2B	6434	genome.wustl.edu	37	3	185643364	185643364	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr3:185643364C>T	ENST00000453386.2	-	3	496	c.221G>A	c.(220-222)cGc>cAc	p.R74H	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GGAGCGGGAGCGAGACCGTGA	0.502																																						dbGAP											0													127.0	116.0	120.0					3																	185643364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.221G>A	3.37:g.185643364C>T	ENSP00000416959:p.Arg74His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R74H	ENST00000453386.2	37	c.221	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074824	0.76415	.	.	ENSG00000136527	ENST00000453386	T	0.40476	1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.62723	1.935	0.80722	D	1	D;D	0.60575	0.968;0.988	B;B	0.42087	0.375;0.375	T	0.34950	-0.9808	10	0.09084	T	0.74	-2.5224	19.6509	0.95805	0.0:1.0:0.0:0.0	.	74;74	B2RDQ3;P62995	.;TRA2B_HUMAN	H	74	ENSP00000416959:R74H	ENSP00000416959:R74H	R	-	2	0	TRA2B	187126058	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	CGC	TRA2B	-	NULL	ENSG00000136527		0.502	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	52	0.00	0	C	NM_004593		185643364	185643364	-1	no_errors	ENST00000453386	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	T
TRIM32	22954	genome.wustl.edu	37	9	119460572	119460572	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr9:119460572T>A	ENST00000450136.1	+	2	712	c.551T>A	c.(550-552)gTt>gAt	p.V184D	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.V184D|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	184					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TATAAAGCAGTTCTCCAGGAG	0.552																																					Esophageal Squamous(92;212 1916 19711 26951)	dbGAP											0													53.0	57.0	56.0					9																	119460572		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.551T>A	9.37:g.119460572T>A	ENSP00000408292:p.Val184Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQP8	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.V184D	ENST00000450136.1	37	c.551	CCDS6817.1	9	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781245	0.70222	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	T;T	0.65178	-0.14;-0.14	5.36	5.36	0.76844	.	0.079530	0.49305	D	0.000141	T	0.55178	0.1904	L	0.27053	0.805	0.80722	D	1	D	0.55385	0.971	P	0.47299	0.543	T	0.54437	-0.8294	9	.	.	.	-16.5911	15.3573	0.74437	0.0:0.0:0.0:1.0	.	184	Q13049	TRI32_HUMAN	D	184	ENSP00000408292:V184D;ENSP00000363095:V184D	.	V	+	2	0	TRIM32	118500393	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.660000	0.83776	2.012000	0.59069	0.533000	0.62120	GTT	TRIM32	-	NULL	ENSG00000119401		0.552	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM32	HGNC	protein_coding	OTTHUMT00000055466.2	36	0.00	0	T	NM_012210		119460572	119460572	+1	no_errors	ENST00000373983	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	A
TRIM6	117854	genome.wustl.edu	37	11	5631431	5631431	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr11:5631431T>A	ENST00000278302.5	+	6	970	c.830T>A	c.(829-831)aTg>aAg	p.M277K	TRIM6_ENST00000507320.1_Missense_Mutation_p.M102K|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_Missense_Mutation_p.M251K|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380097.3_Missense_Mutation_p.M305K|TRIM6_ENST00000445329.1_Missense_Mutation_p.M102K|TRIM6_ENST00000515022.1_Missense_Mutation_p.M102K|TRIM6_ENST00000506134.1_Missense_Mutation_p.M102K|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.M305K	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	277					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGAGAAGTATGTTCCGAGCC	0.493																																						dbGAP											0													107.0	109.0	108.0					11																	5631431		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.830T>A	11.37:g.5631431T>A	ENSP00000278302:p.Met277Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.M305K	ENST00000278302.5	37	c.914	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791834	0.31685	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T	0.04275	3.66;3.66;3.66;3.66;3.66;3.66;3.66;3.66	5.09	-10.2	0.00374	.	.	.	.	.	T	0.02533	0.0077	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B	0.14805	0.006;0.002;0.003;0.011;0.002	B;B;B;B;B	0.15870	0.004;0.002;0.004;0.014;0.004	T	0.39663	-0.9603	9	0.31617	T	0.26	.	3.7684	0.08632	0.2029:0.4364:0.2291:0.1316	.	102;251;305;305;277	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	K	277;102;251;305;102;184;102;102;305;305	ENSP00000278302:M277K;ENSP00000427704:M102K;ENSP00000369450:M251K;ENSP00000369440:M305K;ENSP00000399215:M102K;ENSP00000421802:M102K;ENSP00000421079:M102K;ENSP00000346916:M305K	ENSP00000278302:M277K	M	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5588007	0.000000	0.05858	0.000000	0.03702	0.765000	0.43378	-0.431000	0.06965	-2.253000	0.00698	-0.376000	0.06991	ATG	TRIM34	-	NULL	ENSG00000258659		0.493	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	44	0.00	0	T	NM_001003818		5631431	5631431	+1	no_errors	ENST00000337072	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.000	A
ZSCAN20	7579	genome.wustl.edu	37	1	33956999	33956999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A254-01A-21D-A167-09	TCGA-AR-A254-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	fe2bdac0-832e-4268-bd8f-5dcfffda1979	d139e454-63f2-42da-8ab5-997fca0482b8	g.chr1:33956999delA	ENST00000361328.3	+	6	1294	c.1141delA	c.(1141-1143)aaafs	p.K381fs	ZSCAN20_ENST00000373413.2_Frame_Shift_Del_p.K327fs	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	381					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTATAGGGTCAAAAACCTCCT	0.592																																						dbGAP											0													91.0	97.0	95.0					1																	33956999		1964	4152	6116	-	-	-	SO:0001589	frameshift_variant	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1141delA	1.37:g.33956999delA	ENSP00000355053:p.Lys381fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N382fs	ENST00000361328.3	37	c.1141	CCDS41300.1	1																																																																																			ZSCAN20	-	smart_SANT/Myb	ENSG00000121903		0.592	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	22	0.00	0	A	NM_145238		33956999	33956999	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
