#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRIM33	51592	broad.mit.edu	37	1	115005788	115005788	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:115005788G>A	ENST00000358465.2	-	4	944	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Silent_p.F287F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	287					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F287F(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTTCACAGAAAAGTTTCA	0.353			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		2	Substitution - coding silent(2)	p.F287F(2)	prostate(2)	breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(859-861)ttC>ttT		tripartite motif containing 33							84.0	77.0	79.0					1																	115005788		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115005788G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.861C>T	1.37:g.115005788G>A						TRIM33_ENST00000369543.2_Silent_p.F287F|TRIM33_ENST00000450349.2_5'UTR	p.F287F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	944	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	287					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.861C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216737	0.22373	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.67	2.75	0.32379	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30297	-0.9983	4	.	.	.	-4.393	6.9233	0.24401	0.2018:0.1247:0.6735:0.0	.	.	.	.	F	24	.	.	S	-	2	0	TRIM33	114807311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.113000	0.57851	0.738000	0.32606	0.655000	0.94253	TCT		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		5	74	5	74	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:145530284G>T	ENST00000369304.3	+	6	674	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	167	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.D167Y(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACATACATGGATGTTGTCAT	0.498																																						ENST00000369304.3																			2	Substitution - Missense(2)	p.D167Y(2)	prostate(2)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(499-501)Gat>Tat		integrin, alpha 10							224.0	175.0	191.0					1																	145530284		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145530284G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.499G>T	1.37:g.145530284G>T	ENSP00000358310:p.Asp167Tyr					ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y	p.D167Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			6	674	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		167			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.499G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559049	0.86335	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.77229	-1.08;-1.08;-1.08	5.22	5.22	0.72569	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.90645	0.7066	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93183	0.6576	10	0.87932	D	0	.	16.2851	0.82714	0.0:0.0:1.0:0.0	.	133;36;24;167	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Y	167;133;24;36	ENSP00000358310:D167Y;ENSP00000439894:D24Y;ENSP00000440011:D36Y	ENSP00000358310:D167Y	D	+	1	0	ITGA10	144241641	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.336000	0.96533	2.452000	0.82932	0.650000	0.86243	GAT		0.498	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	205	7	205	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr2:179426189T>G	ENST00000591111.1	-	276	79971	c.79747A>C	c.(79747-79749)Atg>Ctg	p.M26583L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M28224L|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L			Q8WZ42	TITIN_HUMAN	titin	26583	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATACATCAGTCCTTCA	0.398																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(84670-84672)Atg>Ctg		titin							128.0	119.0	122.0					2																	179426189		1891	4133	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426189T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79747A>C	2.37:g.179426189T>G	ENSP00000465570:p.Met26583Leu					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.M28224L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	84894	-			26583			Ig-like 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.84670A>C		.	.	.	.	.	.	.	.	.	.	T	11.16	1.556568	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.91	-1.66	0.08265	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29684	0.0741	N	0.12920	0.275	0.33742	D	0.619601	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.09818	-1.0657	9	0.87932	D	0	.	4.9091	0.13812	0.1074:0.0612:0.3266:0.5048	.	19159;19284;19351;26583	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25656;19159;19351;19284;19157	ENSP00000343764:M25656L;ENSP00000434586:M19159L;ENSP00000340554:M19351L;ENSP00000352154:M19284L	ENSP00000340554:M19351L	M	-	1	0	TTN	179134435	0.000000	0.05858	0.965000	0.40720	0.986000	0.74619	-0.417000	0.07088	-0.489000	0.06716	0.477000	0.44152	ATG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	149	74	149	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:147128521C>A	ENST00000282928.4	+	1	1351	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	208					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208N(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGCGCATCACGGCGCCGG	0.642																																						ENST00000282928.4																			1	Substitution - Missense(1)	p.H208N(1)	prostate(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(622-624)Cac>Aac		Zic family member 1							44.0	46.0	45.0					3																	147128521		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128521C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.622C>A	3.37:g.147128521C>A	ENSP00000282928:p.His208Asn						p.H208N	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1351	+			208					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.622C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052349	0.75960	.	.	ENSG00000152977	ENST00000282928	T	0.40476	1.03	3.31	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.76727	2.345	0.80722	D	1	P	0.46656	0.882	P	0.49047	0.599	T	0.59484	-0.7446	10	0.42905	T	0.14	.	15.1323	0.72533	0.0:1.0:0.0:0.0	.	208	Q15915	ZIC1_HUMAN	N	208	ENSP00000282928:H208N	ENSP00000282928:H208N	H	+	1	0	ZIC1	148611211	1.000000	0.71417	0.941000	0.38009	0.962000	0.63368	7.351000	0.79395	1.847000	0.53656	0.549000	0.68633	CAC		0.642	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		15	64	15	64	---	---	---	---
SOD3	6649	broad.mit.edu	37	4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:24801303G>A	ENST00000382120.3	+	2	365	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	54					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.D54N(1)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCAGCGGCGGGACGACGACGG	0.716																																						ENST00000382120.3																			1	Substitution - Missense(1)	p.D54N(1)	prostate(1)	prostate(1)|urinary_tract(1)	2						c.(160-162)Gac>Aac		superoxide dismutase 3, extracellular							13.0	10.0	11.0					4																	24801303		2174	4259	6433	SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801303G>A		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.160G>A	4.37:g.24801303G>A	ENSP00000371554:p.Asp54Asn						p.D54N	NM_003102.2	NP_003093.2	P08294	SODE_HUMAN			2	365	+		Breast(46;0.0503)	54					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.160G>A	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472945	0.43942	.	.	ENSG00000109610	ENST00000382120	D	0.98633	-5.04	4.91	1.99	0.26369	Superoxide dismutase, copper/zinc binding domain (1);	2.117440	0.02720	U	0.113847	D	0.95645	0.8584	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	D	0.90388	0.4393	10	0.59425	D	0.04	-13.0529	4.2855	0.10853	0.1191:0.2813:0.4782:0.1214	.	54	P08294	SODE_HUMAN	N	54	ENSP00000371554:D54N	ENSP00000371554:D54N	D	+	1	0	SOD3	24410401	.	.	0.001000	0.08648	0.100000	0.18952	.	.	0.992000	0.38840	0.561000	0.74099	GAC		0.716	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			14	8	14	8	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:101834316G>A	ENST00000506729.1	-	1	404	c.233C>T	c.(232-234)cCg>cTg	p.P78L	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	78				KPG -> NRE (in Ref. 1; AAP33048). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P78L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTTCTCCCGGCTTCTTGGA	0.488																																						ENST00000506729.1																			1	Substitution - Missense(1)	p.P78L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(232-234)cCg>cTg		solute carrier organic anion transporter family, member 6A1							129.0	135.0	133.0					5																	101834316		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834316G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.233C>T	5.37:g.101834316G>A	ENSP00000421339:p.Pro78Leu					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L	p.P78L			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	404	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	78	KPG -> NRE (in Ref. 1; AAP33048).				A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.233C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	8.602	0.887099	0.17540	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.44482	1.0;1.0;1.0;0.92;0.92	3.35	-6.71	0.01760	.	13.523300	0.00166	N	0.000001	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.28650	-1.0037	10	0.07175	T	0.84	.	2.3864	0.04366	0.3955:0.3457:0.1427:0.1162	.	78;78;78	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	78	ENSP00000421339:P78L;ENSP00000369135:P78L;ENSP00000373671:P78L;ENSP00000421990:P78L;ENSP00000369138:P78L	ENSP00000369135:P78L	P	-	2	0	SLCO6A1	101862215	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.183000	0.03079	-2.280000	0.00675	0.430000	0.28490	CCG		0.488	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		55	242	55	242	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:24357720C>T	ENST00000378454.3	-	1	560	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	87	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.V87M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCAGCCACGTAATTGCCC	0.587																																						ENST00000378454.3																			1	Substitution - Missense(1)	p.V87M(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(259-261)Gtg>Atg		doublecortin domain containing 2							47.0	44.0	45.0					6																	24357720		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357720C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.259G>A	6.37:g.24357720C>T	ENSP00000367715:p.Val87Met					KAAG1_ENST00000274766.1_5'UTR	p.V87M	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			1	560	-		Ovarian(999;0.101)	87			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.259G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097961	0.94197	.	.	ENSG00000146038	ENST00000378454;ENST00000451359	D	0.97066	-4.23	5.57	5.57	0.84162	Doublecortin domain (5);	0.062950	0.64402	D	0.000006	D	0.98896	0.9626	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-8.4709	19.5657	0.95391	0.0:1.0:0.0:0.0	.	87	Q9UHG0	DCDC2_HUMAN	M	87	ENSP00000367715:V87M	ENSP00000367715:V87M	V	-	1	0	DCDC2	24465699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.704000	0.84595	2.630000	0.89119	0.591000	0.81541	GTG		0.587	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		40	105	40	105	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:33377450C>T	ENST00000428849.2	+	11	2455	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	PHF1_ENST00000374512.3_5'Flank|PHF1_ENST00000374516.3_5'Flank	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	669					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.Q669*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTACTGCTCAGGCCAACAG	0.483																																						ENST00000428849.2																			2	Substitution - Nonsense(2)	p.Q669*(2)	prostate(1)|endometrium(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(2005-2007)Cag>Tag		kinesin family member C1							229.0	183.0	198.0					6																	33377450		2203	4300	6503	SO:0001587	stop_gained	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33377450C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.2005C>T	6.37:g.33377450C>T	ENSP00000393963:p.Gln669*						p.Q669*	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			11	2455	+			669					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation	SNP	ENST00000428849.2	37	c.2005C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766863	0.98477	.	.	ENSG00000237649	ENST00000428849	.	.	.	4.58	4.58	0.56647	.	0.286088	0.31381	N	0.007748	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-30.4818	12.7497	0.57302	0.0:1.0:0.0:0.0	.	.	.	.	X	669	.	ENSP00000393963:Q669X	Q	+	1	0	KIFC1	33485428	0.701000	0.27806	1.000000	0.80357	0.363000	0.29612	2.149000	0.42244	2.380000	0.81148	0.563000	0.77884	CAG		0.483	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		39	259	39	259	---	---	---	---
FBXL4	26235	broad.mit.edu	37	6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:99323344T>G	ENST00000369244.2	-	9	2077	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	550					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.D550A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTCATCAATGTCTGTGTCACA	0.413																																						ENST00000369244.2																			1	Substitution - Missense(1)	p.D550A(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1648-1650)gAc>gCc		F-box and leucine-rich repeat protein 4							84.0	82.0	83.0					6																	99323344		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323344T>G	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1649A>C	6.37:g.99323344T>G	ENSP00000358247:p.Asp550Ala					FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	p.D550A	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	9	2077	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	550					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1649A>C	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579981	0.65992	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.02197	4.4;4.4	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	L	0.39898	1.24	0.80722	D	1	D;B	0.89917	1.0;0.13	D;B	0.83275	0.996;0.033	T	0.64786	-0.6325	10	0.18710	T	0.47	.	16.2736	0.82632	0.0:0.0:0.0:1.0	.	550;550	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	A	550	ENSP00000358247:D550A;ENSP00000229971:D550A	ENSP00000229971:D550A	D	-	2	0	FBXL4	99430065	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.247000	0.74100	0.477000	0.44152	GAC		0.413	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			46	121	46	121	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:33573723T>C	ENST00000242067.6	+	21	2977	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	819					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L819S(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCGATAGATTATCCAAAGGT	0.493									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	2	Substitution - Missense(2)	p.L819S(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2455-2457)tTa>tCa		Bardet-Biedl syndrome 9							129.0	96.0	107.0					7																	33573723		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573723T>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2456T>C	7.37:g.33573723T>C	ENSP00000242067:p.Leu819Ser					BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S	p.L819S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	2977	+			819					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2456T>C	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641140	0.67244	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.93	5.93	0.95920	.	0.094648	0.38837	N	0.001560	T	0.40743	0.1129	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.997;0.997	D;D;D;D;D	0.72625	0.964;0.964;0.978;0.964;0.964	T	0.18461	-1.0336	10	0.87932	D	0	-9.3176	16.3943	0.83563	0.0:0.0:0.0:1.0	.	819;779;814;784;819	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	S	819;779;784;814;784;819	ENSP00000242067:L819S;ENSP00000313122:L779S;ENSP00000379433:L784S;ENSP00000347182:L814S;ENSP00000346214:L784S	ENSP00000242067:L819S	L	+	2	0	BBS9	33540248	0.962000	0.33011	0.015000	0.15790	0.725000	0.41563	7.481000	0.81124	2.281000	0.76405	0.533000	0.62120	TTA		0.493	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			45	86	45	86	---	---	---	---
TMEM243	79161	broad.mit.edu	37	7	86848787	86848787	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:86848787G>A	ENST00000433078.1	-	2	474	c.33C>T	c.(31-33)acC>acT	p.T11T	Y_RNA_ENST00000363527.1_RNA|TMEM243_ENST00000481425.1_5'Flank|TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	11						integral component of membrane (GO:0016021)		p.T11T(1)									CCAGGCCACTGGTGCCGTAGG	0.572																																						ENST00000433078.1																			1	Substitution - coding silent(1)	p.T11T(1)	prostate(1)								c.(31-33)acC>acT		transmembrane protein 243, mitochondrial							117.0	101.0	107.0					7																	86848787		2203	4300	6503	SO:0001819	synonymous_variant	79161							g.chr7:86848787G>A		CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.33C>T	7.37:g.86848787G>A						TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T	p.T11T							2	474	-								A4D1C6|B2R9I4|D6W5P1	Silent	SNP	ENST00000433078.1	37	c.33C>T	CCDS5602.1																																																																																				0.572	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		16	68	16	68	---	---	---	---
KIF18A	81930	broad.mit.edu	37	11	28058051	28058051	+	Silent	SNP	A	A	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:28058051A>G	ENST00000263181.6	-	14	2399	c.2109T>C	c.(2107-2109)atT>atC	p.I703I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	703					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.I703I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTGTATATACAATAGGCTGAA	0.383																																						ENST00000263181.6																			1	Substitution - coding silent(1)	p.I703I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(2107-2109)atT>atC		kinesin family member 18A							97.0	99.0	99.0					11																	28058051		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058051A>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2109T>C	11.37:g.28058051A>G							p.I703I	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			14	2399	-			703					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2109T>C	CCDS7867.1																																																																																				0.383	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		48	191	48	191	---	---	---	---
CABP4	57010	broad.mit.edu	37	11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67223061G>A	ENST00000325656.5	+	1	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR|GPR152_ENST00000312457.2_5'Flank	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	56					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)	p.G56D(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCGCACTGGCAGCTCTGGG	0.687																																						ENST00000325656.5																			1	Substitution - Missense(1)	p.G56D(1)	prostate(1)	central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(166-168)gGc>gAc		calcium binding protein 4							13.0	14.0	14.0					11																	67223061		2186	4274	6460	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223061G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.167G>A	11.37:g.67223061G>A	ENSP00000324960:p.Gly56Asp					CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	p.G56D	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	244	+			56					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.167G>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969339	0.18659	.	.	ENSG00000175544	ENST00000325656	T	0.67698	-0.28	4.74	1.51	0.23008	.	1.631250	0.03825	N	0.268157	T	0.62539	0.2436	L	0.54323	1.7	0.09310	N	0.999997	B	0.12013	0.005	B	0.08055	0.003	T	0.51004	-0.8760	10	0.87932	D	0	-8.099	6.4332	0.21809	0.1031:0.3743:0.5225:0.0	.	56	P57796	CABP4_HUMAN	D	56	ENSP00000324960:G56D	ENSP00000324960:G56D	G	+	2	0	CABP4	66979637	0.020000	0.18652	0.639000	0.29394	0.184000	0.23303	0.231000	0.17872	0.508000	0.28173	0.491000	0.48974	GGC		0.687	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			13	9	13	9	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66208993	66208993	+	Silent	SNP	G	G	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:66208993G>C	ENST00000360689.5	+	11	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000358307.2_Silent_p.V402V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394585.1_Silent_p.V531V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	531	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.V531V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCATTGGTGTGGCTGGAAATC	0.463																																						ENST00000360689.5																			2	Substitution - coding silent(2)	p.V531V(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1591-1593)gtG>gtC		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							123.0	122.0	123.0					14																	66208993		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208993G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1593G>C	14.37:g.66208993G>C						FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V	p.V531V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3320	+			531			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1593G>C	CCDS9775.1																																																																																				0.463	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		20	181	20	181	---	---	---	---
NBEAP1	606	broad.mit.edu	37	15	20874901	20874901	+	RNA	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr15:20874901G>A	ENST00000556948.1	-	0	347							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		TTCTGCATATGGTGGTGTAGA	0.333																																						ENST00000556948.1																			0																																																			606							g.chr15:20874901G>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20874901G>A														0	347	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.333	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		3	67	3	67	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:15512380C>T	ENST00000397410.5	-	5	527	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	133						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V133I(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCACTCAGGACGGCCCTCGAG	0.592																																						ENST00000397410.5																			2	Substitution - Missense(2)	p.V133I(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(397-399)Gtc>Atc		A kinase (PRKA) anchor protein 8-like							39.0	38.0	38.0					19																	15512380		2129	4227	6356	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512380C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.397G>A	19.37:g.15512380C>T	ENSP00000380557:p.Val133Ile					AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I	p.V133I	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	527	-								B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.397G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408130	0.11754	.	.	ENSG00000011243	ENST00000397410	T	0.42900	0.96	4.72	0.00345	0.14055	.	0.846657	0.10204	N	0.702987	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.24764	-1.0151	10	0.18710	T	0.47	-5.4284	3.676	0.08292	0.1692:0.4035:0.0:0.4273	.	72;133;133	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	I	133	ENSP00000380557:V133I	ENSP00000380557:V133I	V	-	1	0	AKAP8L	15373380	0.190000	0.23276	0.445000	0.26908	0.388000	0.30384	0.018000	0.13422	-0.178000	0.10672	0.655000	0.94253	GTC		0.592	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		5	23	5	23	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	rs140630977		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:16003198C>T	ENST00000221700.6	-	5	541	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R149Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTCAGCATCCGACGGTGGCG	0.567																																						ENST00000221700.6																			2	Substitution - Missense(2)	p.R149Q(2)	prostate(1)|skin(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(445-447)cGg>cAg		cytochrome P450, family 4, subfamily F, polypeptide 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	94.0	94.0		446	2.7	1.0	19	dbSNP_134	94	0,8600		0,0,4300	no	missense	CYP4F2	NM_001082.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	149/521	16003198	1,13005	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003198C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.446G>A	19.37:g.16003198C>T	ENSP00000221700:p.Arg149Gln					CYP4F2_ENST00000011989.7_5'UTR	p.R149Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			5	541	-									Missense_Mutation	SNP	ENST00000221700.6	37	c.446G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.236912	0.58886	2.27E-4	0.0	ENSG00000186115	ENST00000221700	T	0.71579	-0.58	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000016	T	0.81484	0.4832	M	0.83852	2.665	0.80722	D	1	D	0.59767	0.986	P	0.62014	0.897	D	0.84155	0.0425	10	0.87932	D	0	.	11.1194	0.48279	0.0:1.0:0.0:0.0	.	149	P78329	CP4F2_HUMAN	Q	149	ENSP00000221700:R149Q	ENSP00000221700:R149Q	R	-	2	0	CYP4F2	15864198	0.761000	0.28439	0.981000	0.43875	0.356000	0.29392	0.974000	0.29436	1.486000	0.48398	0.289000	0.19496	CGG		0.567	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		27	131	27	131	---	---	---	---
ETV3	2117	broad.mit.edu	37	1	157104016	157104017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:157104016_157104017insT	ENST00000368192.4	-	4	351_352	c.287_288insA	c.(286-288)tacfs	p.Y96fs	ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs|ETV3_ENST00000460850.1_5'Flank	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	96					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTTGTAATAGTATCTGTAAAA	0.371																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(286-288)tacfs		ets variant 3																																				SO:0001589	frameshift_variant	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104016_157104017insT	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.288dupA	1.37:g.157104017_157104017dupT	ENSP00000357175:p.Tyr96fs					ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs	p.Y96fs	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			4	351_352	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	96					B4E3M7|Q8TAC8|Q9BX30	Frame_Shift_Ins	INS	ENST00000368192.4	37	c.287_288insA	CCDS44250.1																																																																																				0.371	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		46	39	46	39	---	---	---	---
DHFR	1719	broad.mit.edu	37	5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:79945228_79945232delTAAAT	ENST00000439211.2	-	3	711_715	c.218_222delATTTA	c.(217-222)aatttafs	p.NL73fs	DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	73	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCTGAGAACTAAATTAATTCTACC	0.332																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(217-222)aatttafs		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)																																			SO:0001589	frameshift_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945228_79945232delTAAAT		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.218_222delATTTA	5.37:g.79945228_79945232delTAAAT	ENSP00000396308:p.Asn73fs					DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs	p.NL73fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	711_715	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	73			DHFR.		B4DDD2|Q14130|Q6IRW8	Frame_Shift_Del	DEL	ENST00000439211.2	37	c.218_222delATTTA	CCDS47240.1																																																																																				0.332	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		23	74	23	74	---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr9:95069196_95069199delTGTT	ENST00000535387.1	-	9	2679_2682	c.2680_2683delAACA	c.(2680-2685)aacagafs	p.NR894fs	NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTGATCCTCTGTTTGTAGAATTG	0.338																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2794-2799)aacagafs		nucleolar protein 8																																				SO:0001589	frameshift_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95069196_95069199delTGTT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2680_2683delAACA	9.37:g.95069196_95069199delTGTT	ENSP00000441300:p.Asn894fs					NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs	p.NR932fs			Q76FK4	NOL8_HUMAN			11	3286_3289	-			932						Frame_Shift_Del	DEL	ENST00000535387.1	37	c.2794_2797delAACA	CCDS47993.1																																																																																				0.338	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		7	281	7	281	---	---	---	---
