#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
CEP63	80254	genome.wustl.edu	37	3	134266281	134266281	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr3:134266281T>G	ENST00000337090.3	+	9	1207	c.1034T>G	c.(1033-1035)cTt>cGt	p.L345R	CEP63_ENST00000383229.3_Missense_Mutation_p.L345R|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.L345R|CEP63_ENST00000606977.1_Missense_Mutation_p.L345R|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	345					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGTGAGGACCTTCTGCAGGCA	0.408																																						dbGAP											0													131.0	118.0	122.0					3																	134266281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1034T>G	3.37:g.134266281T>G	ENSP00000336524:p.Leu345Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	NULL	p.L345R	ENST00000337090.3	37	c.1034	CCDS3086.1	3	.	.	.	.	.	.	.	.	.	.	T	4.387	0.071443	0.08436	.	.	ENSG00000182923	ENST00000337090;ENST00000383229;ENST00000513612;ENST00000514678	T;T;T;T	0.31510	2.27;1.56;2.27;1.49	4.87	3.63	0.41609	.	0.279795	0.32769	N	0.005674	T	0.30198	0.0757	L	0.28274	0.84	0.27332	N	0.956735	D;B	0.61080	0.989;0.013	D;B	0.63877	0.919;0.022	T	0.14117	-1.0484	10	0.15066	T	0.55	-3.2013	5.1287	0.14897	0.2317:0.0:0.1488:0.6195	.	345;345	Q96MT8;Q96MT8-2	CEP63_HUMAN;.	R	345;345;345;18	ENSP00000336524:L345R;ENSP00000372716:L345R;ENSP00000426129:L345R;ENSP00000427526:L18R	ENSP00000336524:L345R	L	+	2	0	CEP63	135748971	0.300000	0.24435	0.978000	0.43139	0.909000	0.53808	1.950000	0.40323	2.172000	0.68678	0.528000	0.53228	CTT	CEP63	-	NULL	ENSG00000182923		0.408	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	57	0.00	0	T	NM_025180		134266281	134266281	+1	no_errors	ENST00000337090	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.880	G
COL5A1	1289	genome.wustl.edu	37	9	137622088	137622088	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr9:137622088A>T	ENST00000371817.3	+	7	1345	c.931A>T	c.(931-933)Acc>Tcc	p.T311S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	311	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGAGCTGACCCCGACCCC	0.647																																						dbGAP											0													83.0	86.0	85.0					9																	137622088		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.931A>T	9.37:g.137622088A>T	ENSP00000360882:p.Thr311Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.T311S	ENST00000371817.3	37	c.931	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	A	7.502	0.652929	0.14580	.	.	ENSG00000130635	ENST00000371817	D	0.89343	-2.5	4.37	3.23	0.37069	.	1.340410	0.05208	U	0.506139	D	0.85708	0.5759	L	0.50333	1.59	0.25377	N	0.988649	B	0.14438	0.01	B	0.13407	0.009	T	0.66360	-0.5943	10	0.17369	T	0.5	.	9.2138	0.37335	0.9115:0.0:0.0885:0.0	.	311	P20908	CO5A1_HUMAN	S	311	ENSP00000360882:T311S	ENSP00000360882:T311S	T	+	1	0	COL5A1	136761909	0.497000	0.26067	0.443000	0.26883	0.266000	0.26442	2.115000	0.41921	0.554000	0.29061	0.460000	0.39030	ACC	COL5A1	-	NULL	ENSG00000130635		0.647	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	19	0.00	0	A	NM_000093		137622088	137622088	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.713	T
CROCC	9696	genome.wustl.edu	37	1	17266536	17266536	+	Missense_Mutation	SNP	G	G	C	rs9435714	byFrequency	TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr1:17266536G>C	ENST00000375541.5	+	13	1825	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCCACGAGGACGCCCAGCG	0.687																																						dbGAP											0													18.0	18.0	18.0					1																	17266536		2192	4282	6474	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1756G>C	1.37:g.17266536G>C	ENSP00000364691:p.Asp586His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.D586H	ENST00000375541.5	37	c.1756	CCDS30616.1	1	519	0.23763736263736263	48	0.0975609756097561	79	0.21823204419889503	205	0.3583916083916084	187	0.24670184696569922	G	15.26	2.782176	0.49891	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10960	2.82	4.99	4.08	0.47627	.	.	.	.	.	T	0.00012	0.0000	M	0.77103	2.36	0.41904	D	0.990437	D;D;D	0.89917	0.999;1.0;0.995	D;D;P	0.71656	0.964;0.974;0.874	T	0.40757	-0.9546	9	0.49607	T	0.09	.	11.8785	0.52560	0.0876:0.0:0.9124:0.0	rs9435714	449;449;586	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	H	586;467	ENSP00000364691:D586H	ENSP00000364691:D586H	D	+	1	0	CROCC	17139123	1.000000	0.71417	0.992000	0.48379	0.609000	0.37215	5.471000	0.66762	1.432000	0.47375	0.561000	0.74099	GAC	CROCC	-	NULL	ENSG00000058453		0.687	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	13	0.00	0	G	NM_014675		17266536	17266536	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	C
ECE2	9718	genome.wustl.edu	37	3	183994997	183995000	+	Intron	DEL	GACT	GACT	-			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	GACT	GACT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr3:183994997_183995000delGACT	ENST00000402825.3	+	4	616				ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Intron|ECE2_ENST00000359140.4_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGACAGACAGACTGACAGTCTCC	0.564																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.617-39GACT>-	3.37:g.183994997_183995000delGACT		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Frame_Shift_Del	DEL	NULL	p.D67fs	ENST00000402825.3	37	c.199_202	CCDS3256.2	3																																																																																			ECE2	-	NULL	ENSG00000145194		0.564	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	36	0.00	0	GACT	NM_014693		183994997	183995000	+1	no_errors	ENST00000422932	ensembl	human	known	69_37n	frame_shift_del	30	23.08	9	DEL	0.000:0.000:0.000:0.008	-
KHK	3795	genome.wustl.edu	37	2	27320515	27320515	+	Missense_Mutation	SNP	G	G	T	rs41288797	byFrequency	TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr2:27320515G>T	ENST00000260599.6	+	5	1075	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.V188L	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	188					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACGGAGACGTGGTGGGTGC	0.542																																						dbGAP											0													74.0	73.0	73.0					2																	27320515		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.562G>T	2.37:g.27320515G>T	ENSP00000260599:p.Val188Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	pfam_PfkB	p.V188L	ENST00000260599.6	37	c.562	CCDS1734.1	2	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419352	0.62622	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.75367	-0.93;-0.93;0.03	5.93	4.96	0.65561	Carbohydrate/purine kinase (1);	0.115358	0.64402	D	0.000017	T	0.72882	0.3516	M	0.70595	2.14	0.50313	D	0.999863	B;B;B;B	0.26876	0.048;0.012;0.162;0.012	B;B;B;B	0.28465	0.084;0.013;0.09;0.013	T	0.69960	-0.5003	10	0.38643	T	0.18	.	12.544	0.56188	0.0869:0.0:0.9131:0.0	.	188;188;188;188	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	L	188;188;233	ENSP00000260599:V188L;ENSP00000260598:V188L;ENSP00000404741:V233L	ENSP00000260598:V188L	V	+	1	0	KHK	27174019	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.568000	0.53820	1.353000	0.45828	0.655000	0.94253	GTG	KHK	-	pfam_PfkB	ENSG00000138030		0.542	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	34	0.00	0	G			27320515	27320515	+1	no_errors	ENST00000260598	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	T
KIF16B	55614	genome.wustl.edu	37	20	16359706	16359706	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr20:16359706G>C	ENST00000354981.2	-	19	3098	c.2941C>G	c.(2941-2943)Cgt>Ggt	p.R981G	KIF16B_ENST00000355755.3_Missense_Mutation_p.R981G|KIF16B_ENST00000408042.1_Missense_Mutation_p.R981G|KIF16B_ENST00000378003.2_Missense_Mutation_p.R207G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	981	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTCCTGACGTGCAATGTTG	0.512																																						dbGAP											0													171.0	169.0	169.0					20																	16359706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2941C>G	20.37:g.16359706G>C	ENSP00000347076:p.Arg981Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R981G	ENST00000354981.2	37	c.2941	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781878	0.49891	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.74842	-0.82;-0.82;1.05;-0.88	5.82	2.61	0.31194	.	0.107759	0.64402	D	0.000009	T	0.82006	0.4943	L	0.59436	1.845	0.48395	D	0.999648	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	T	0.78181	-0.2304	10	0.29301	T	0.29	.	14.3584	0.66752	0.0:0.0:0.6114:0.3886	.	981;981;981;981	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	G	981;981;825;207;981	ENSP00000347076:R981G;ENSP00000347995:R981G;ENSP00000367242:R207G;ENSP00000384164:R981G	ENSP00000347076:R981G	R	-	1	0	KIF16B	16307706	1.000000	0.71417	0.012000	0.15200	0.322000	0.28314	5.534000	0.67167	0.293000	0.22520	0.655000	0.94253	CGT	KIF16B	-	NULL	ENSG00000089177		0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	99	0.00	0	G	NM_017683		16359706	16359706	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	101	21.09	27	SNP	0.983	C
NEU4	129807	genome.wustl.edu	37	2	242757547	242757547	+	Missense_Mutation	SNP	C	C	T	rs370002261		TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr2:242757547C>T	ENST00000391969.2	+	5	1339	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	NEU4_ENST00000325935.6_Missense_Mutation_p.R223C|NEU4_ENST00000407683.1_Missense_Mutation_p.R210C|NEU4_ENST00000404257.1_Missense_Mutation_p.R222C|NEU4_ENST00000405370.1_Missense_Mutation_p.R210C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	210					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCGCACCTGGCGCTGTGGAGG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13758	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													63.0	42.0	49.0					2																	242757547		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.628C>T	2.37:g.242757547C>T	ENSP00000375830:p.Arg210Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Neuraminidase	p.R223C	ENST00000391969.2	37	c.667	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742484	0.69418	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.55	4.55	0.56014	Neuraminidase (2);	0.527189	0.21457	N	0.074239	D	0.92485	0.7614	M	0.71871	2.18	0.49213	D	0.999768	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.61658	0.825;0.731;0.892	D	0.92965	0.6392	10	0.72032	D	0.01	-11.8361	12.4418	0.55629	0.1678:0.8322:0.0:0.0	.	222;222;210	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	C	210;210;220;222;210;223;210	ENSP00000385402:R210C;ENSP00000384804:R210C;ENSP00000385149:R222C;ENSP00000375830:R210C;ENSP00000320318:R223C;ENSP00000388707:R210C	ENSP00000320318:R223C	R	+	1	0	NEU4	242406220	0.994000	0.37717	0.905000	0.35620	0.553000	0.35397	3.153000	0.50685	2.076000	0.62316	0.443000	0.29094	CGC	NEU4	-	superfamily_Neuraminidase	ENSG00000204099		0.672	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	17	0.00	0	C	NM_080741		242757547	242757547	+1	no_errors	ENST00000325935	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.989	T
RB1CC1	9821	genome.wustl.edu	37	8	53588958	53588958	+	Silent	SNP	G	G	T			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr8:53588958G>T	ENST00000025008.5	-	6	1066	c.543C>A	c.(541-543)tcC>tcA	p.S181S	RB1CC1_ENST00000539297.1_Silent_p.S181S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S181S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	181					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGTCTTCTATGGACTGCAGAT	0.323																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													65.0	69.0	67.0					8																	53588958		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.543C>A	8.37:g.53588958G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.S181	ENST00000025008.5	37	c.543	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	37	0.00	0	G	NM_014781		53588958	53588958	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	silent	40	13.04	6	SNP	0.995	T
ROBO4	54538	genome.wustl.edu	37	11	124764141	124764141	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr11:124764141C>A	ENST00000306534.3	-	8	1759	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.G280V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	425	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCTCCAGCACCAGTGACTGC	0.612																																						dbGAP											0													80.0	66.0	71.0					11																	124764141		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1274G>T	11.37:g.124764141C>A	ENSP00000304945:p.Gly425Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G425V	ENST00000306534.3	37	c.1274	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266985	0.59540	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.60797	0.16;0.16	4.79	4.79	0.61399	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.37857	N	0.001901	T	0.66616	0.2807	L	0.35644	1.08	0.48511	D	0.999661	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69921	-0.5014	10	0.87932	D	0	.	13.3667	0.60689	0.0:1.0:0.0:0.0	.	315;425	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	V	425;315;280	ENSP00000304945:G425V;ENSP00000437129:G280V	ENSP00000304945:G425V	G	-	2	0	ROBO4	124269351	0.372000	0.25064	0.275000	0.24674	0.844000	0.47949	2.484000	0.45242	2.210000	0.71456	0.561000	0.74099	GGT	ROBO4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154133		0.612	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	38	0.00	0	C	NM_019055		124764141	124764141	-1	no_errors	ENST00000306534	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.561	A
RYR2	6262	genome.wustl.edu	37	1	237897046	237897046	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr1:237897046T>A	ENST00000366574.2	+	79	11398	c.11081T>A	c.(11080-11082)aTt>aAt	p.I3694N	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.I3692N|RYR2_ENST00000542537.1_Missense_Mutation_p.I3678N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3694					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATGCAGATATTATGGCAAAG	0.348																																						dbGAP											0													111.0	100.0	104.0					1																	237897046		1822	4082	5904	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11081T>A	1.37:g.237897046T>A	ENSP00000355533:p.Ile3694Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.I3692N	ENST00000366574.2	37	c.11075	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340220	0.81911	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97505	-4.41;-4.34;-4.4	5.79	5.79	0.91817	.	0.000000	0.64402	U	0.000015	D	0.98460	0.9487	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.68621	0.642;0.959	D	0.99505	1.0954	10	0.87932	D	0	-17.3392	15.127	0.72489	0.0:0.0:0.0:1.0	.	649;3694	B4DGV4;Q92736	.;RYR2_HUMAN	N	3694;3692;3678;649	ENSP00000355533:I3694N;ENSP00000353174:I3692N;ENSP00000443798:I3678N	ENSP00000353174:I3692N	I	+	2	0	RYR2	235963669	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.541000	0.82084	2.223000	0.72356	0.455000	0.32223	ATT	RYR2	-	NULL	ENSG00000198626		0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	71	0.00	0	T	NM_001035		237897046	237897046	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	135	13.46	21	SNP	1.000	A
TRPM5	29850	genome.wustl.edu	37	11	2434365	2434365	+	Splice_Site	SNP	G	G	A			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chr11:2434365G>A	ENST00000155858.6	-	14	2103	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	TRPM5_ENST00000533060.1_Splice_Site_p.R699W|TRPM5_ENST00000528453.1_Splice_Site_p.R699W|TRPM5_ENST00000452833.1_Splice_Site_p.R701W	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCTCGCACCGGCTCTGCAGG	0.701																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0													16.0	15.0	16.0					11																	2434365		2153	4236	6389	-	-	-	SO:0001630	splice_region_variant	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2096+1C>T	11.37:g.2434365G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R701W	ENST00000155858.6	37	c.2101	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127077	0.20959	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	3.69	-1.26	0.09376	.	2.176640	0.01784	N	0.031908	T	0.65913	0.2737	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.56177	-0.8022	10	0.66056	D	0.02	-0.1821	2.3564	0.04296	0.1056:0.1567:0.4193:0.3184	.	699;701;699	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	W	693;699;701;699;699;699	ENSP00000434383:R693W;ENSP00000155858:R699W;ENSP00000387965:R701W;ENSP00000434121:R699W;ENSP00000436809:R699W	ENSP00000155858:R699W	R	-	1	2	TRPM5	2390941	0.000000	0.05858	0.001000	0.08648	0.142000	0.21351	-1.432000	0.02430	-0.102000	0.12197	0.313000	0.20887	CGG	TRPM5	-	NULL	ENSG00000070985		0.701	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	27	0.00	0	G	NM_014555	Missense_Mutation	2434365	2434365	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.001	A
ZXDB	158586	genome.wustl.edu	37	X	57620700	57620700	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A2LO-01A-31D-A18P-09	TCGA-AR-A2LO-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c65887cd-2df3-46ac-9787-f1ad62279055	67693f81-bf05-4221-ba0b-3a4ce2217bf3	g.chrX:57620700C>T	ENST00000374888.1	+	1	2432	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	740					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S740L(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTGACTCCTTCGAGCACCCTT	0.502																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											138.0	101.0	113.0					X																	57620700		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2219C>T	X.37:g.57620700C>T	ENSP00000364023:p.Ser740Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S740L	ENST00000374888.1	37	c.2219	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	17.54	3.415350	0.62511	.	.	ENSG00000198455	ENST00000374888	T	0.09723	2.95	3.91	3.91	0.45181	.	0.258917	0.36338	N	0.002660	T	0.24353	0.0590	L	0.47716	1.5	0.48236	D	0.999612	D	0.76494	0.999	D	0.72625	0.978	T	0.00934	-1.1509	10	0.62326	D	0.03	.	12.7657	0.57391	0.0:1.0:0.0:0.0	.	740	P98169	ZXDB_HUMAN	L	740	ENSP00000364023:S740L	ENSP00000364023:S740L	S	+	2	0	ZXDB	57637425	1.000000	0.71417	0.747000	0.31113	0.932000	0.56968	5.658000	0.68003	1.954000	0.56735	0.529000	0.55759	TCG	ZXDB	-	NULL	ENSG00000198455		0.502	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	88	0.00	0	C	NM_007157		57620700	57620700	+1	no_errors	ENST00000374888	ensembl	human	known	69_37n	missense	61	29.07	25	SNP	0.955	T
