#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TSPYL5	85453	broad.mit.edu	37	8	98289030	98289030	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:98289030C>T	ENST00000322128.3	-	1	1146	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	348					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AAAGAAACTACGGTTGTTTTC	0.498																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1042-1044)cGt>cAt		TSPY-like 5							115.0	117.0	116.0					8																	98289030		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289030C>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1043G>A	8.37:g.98289030C>T	ENSP00000322802:p.Arg348His						p.R348H	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	1146	-	Breast(36;2.56e-06)		348					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.1043G>A	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610064	0.14066	.	.	ENSG00000180543	ENST00000322128	T	0.25912	1.77	4.3	1.41	0.22369	.	0.265497	0.20106	N	0.099132	T	0.17534	0.0421	L	0.35644	1.08	0.09310	N	1	B	0.32031	0.352	B	0.37047	0.24	T	0.13764	-1.0497	10	0.35671	T	0.21	-0.1916	2.7484	0.05273	0.1902:0.5238:0.1842:0.1017	.	348	Q86VY4	TSYL5_HUMAN	H	348	ENSP00000322802:R348H	ENSP00000322802:R348H	R	-	2	0	TSPYL5	98358206	0.001000	0.12720	0.182000	0.23118	0.996000	0.88848	0.286000	0.18902	0.307000	0.22880	0.563000	0.77884	CGT		0.498	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		5	117	0	0	0	1	0	5	117				
PIP5KL1	138429	broad.mit.edu	37	9	130688198	130688198	+	Silent	SNP	G	G	A	rs199964448		TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr9:130688198G>A	ENST00000388747.4	-	8	755	c.711C>T	c.(709-711)ccC>ccT	p.P237P	PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	237	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCAGAACAAGGGGGCTGCCCT	0.582																																						ENST00000388747.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						c.(709-711)ccC>ccT		phosphatidylinositol-4-phosphate 5-kinase-like 1							53.0	52.0	52.0					9																	130688198		2203	4300	6503	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130688198G>A	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.711C>T	9.37:g.130688198G>A						PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	p.P237P	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN			8	755	-			237			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.711C>T	CCDS48030.1																																																																																				0.582	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		3	52	0	0	0	1	0	3	52				
ABCG2	9429	broad.mit.edu	37	4	89042815	89042815	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr4:89042815C>T	ENST00000237612.3	-	6	1206	c.661G>A	c.(661-663)Gca>Aca	p.A221T	ABCG2_ENST00000515655.1_Missense_Mutation_p.A221T	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	221	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ACAGCATTTGCTGTGCTTGAG	0.403																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(661-663)Gca>Aca		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						108.0	101.0	103.0					4																	89042815		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89042815C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.661G>A	4.37:g.89042815C>T	ENSP00000237612:p.Ala221Thr					ABCG2_ENST00000515655.1_Missense_Mutation_p.A221T	p.A221T	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	6	1206	-		Hepatocellular(203;0.114)	221			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.661G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902255	0.92035	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.64618	-0.11;-0.11	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.66378	2.025	0.80722	D	1	D;D;D	0.76494	0.999;0.965;0.998	D;P;P	0.63877	0.919;0.751;0.831	T	0.76187	-0.3051	10	0.45353	T	0.12	-27.6425	19.1053	0.93293	0.0:1.0:0.0:0.0	.	221;221;221	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	T	221	ENSP00000426917:A221T;ENSP00000237612:A221T	ENSP00000237612:A221T	A	-	1	0	ABCG2	89261839	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	5.758000	0.68776	2.613000	0.88420	0.650000	0.86243	GCA		0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		3	40	0	0	0	1	0	3	40				
OR4D5	219875	broad.mit.edu	37	11	123810795	123810795	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr11:123810795G>A	ENST00000307033.2	+	1	546	c.472G>A	c.(472-474)Gta>Ata	p.V158I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCACTCCATAGTACAGATTGC	0.512																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(472-474)Gta>Ata		olfactory receptor, family 4, subfamily D, member 5							102.0	95.0	98.0					11																	123810795		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810795G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.472G>A	11.37:g.123810795G>A	ENSP00000305970:p.Val158Ile						p.V158I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	546	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	158					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.472G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470139	0.26423	.	.	ENSG00000171014	ENST00000307033	T	0.37058	1.22	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.344162	0.20743	N	0.086507	T	0.21186	0.0510	N	0.13168	0.305	0.21386	N	0.999704	B	0.24186	0.099	B	0.34180	0.177	T	0.32851	-0.9891	10	0.05721	T	0.95	-3.6143	9.2281	0.37418	0.078:0.1476:0.7744:0.0	.	158	Q8NGN0	OR4D5_HUMAN	I	158	ENSP00000305970:V158I	ENSP00000305970:V158I	V	+	1	0	OR4D5	123316005	0.003000	0.15002	0.938000	0.37757	0.896000	0.52359	0.803000	0.27083	2.575000	0.86900	0.655000	0.94253	GTA		0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		4	91	0	0	0	1	0	4	91				
FRG1	2483	broad.mit.edu	37	4	190874243	190874243	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr4:190874243C>G	ENST00000226798.4	+	4	502	c.280C>G	c.(280-282)Cca>Gca	p.P94A	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	94					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CCCTAGTCCTCCAGAGCAGTT	0.279																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(280-282)Cca>Gca		FSHD region gene 1							11.0	11.0	11.0					4																	190874243		2038	4135	6173	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190874243C>G	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.280C>G	4.37:g.190874243C>G	ENSP00000226798:p.Pro94Ala					FRG1_ENST00000514482.1_3'UTR	p.P94A	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	4	502	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	94					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.280C>G	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.87	2.960073	0.53400	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.40476	2.02;1.03	3.71	3.71	0.42584	Actin cross-linking (1);	0.051440	0.85682	D	0.000000	T	0.46795	0.1411	M	0.76838	2.35	0.80722	D	1	P	0.40931	0.733	B	0.44133	0.442	T	0.46034	-0.9220	10	0.12103	T	0.63	-4.7451	13.8593	0.63550	0.0:1.0:0.0:0.0	.	94	Q14331	FRG1_HUMAN	A	94;31	ENSP00000226798:P94A;ENSP00000435943:P31A	ENSP00000226798:P94A	P	+	1	0	FRG1	191111237	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.060000	0.76692	2.022000	0.59522	0.632000	0.83419	CCA		0.279	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	22	0	0	0	1	0	3	22				
CTCFL	140690	broad.mit.edu	37	20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	350					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1048-1050)gCc>gTc		CCCTC-binding factor (zinc finger protein)-like							193.0	180.0	184.0					20																	56093824		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093824G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1049C>T	20.37:g.56093824G>A	ENSP00000476783:p.Ala350Val					CTCFL_ENST00000423479.2_Missense_Mutation_p.A350V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422109.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.1_5'UTR	p.A350V			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1710	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		350					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1049C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384711	0.82792	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.19105	3.12;3.12;3.12;2.17;3.12;3.12;2.17;3.12;2.17;3.12;3.12	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.39064	0.1064	L	0.41632	1.29	0.42331	D	0.992293	D;D;P;D;D;P;D;D	0.89917	1.0;0.994;0.89;1.0;0.999;0.94;0.999;0.999	D;D;P;D;D;P;D;D	0.87578	0.989;0.963;0.758;0.998;0.985;0.897;0.985;0.985	T	0.25847	-1.0120	10	0.72032	D	0.01	-29.0302	16.9368	0.86205	0.0:0.0:1.0:0.0	.	350;350;350;350;350;350;350;350	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	V	350;350;350;350;350;88;350;350;350;145;350	ENSP00000415579:A350V;ENSP00000243914:A350V;ENSP00000360239:A350V;ENSP00000415329:A350V;ENSP00000392034:A350V;ENSP00000437999:A88V;ENSP00000413713:A350V;ENSP00000403369:A350V;ENSP00000409344:A350V;ENSP00000439998:A145V;ENSP00000399061:A350V	ENSP00000243914:A350V	A	-	2	0	CTCFL	55527230	1.000000	0.71417	0.386000	0.26170	0.637000	0.38172	5.077000	0.64419	2.346000	0.79739	0.591000	0.81541	GCC		0.443	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	157	0	0	0	1	0	4	157				
FRY	10129	broad.mit.edu	37	13	32747510	32747510	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr13:32747510G>A	ENST00000380250.3	+	19	2654	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	720						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAGCTCATCGCAAATGGCTC	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2158-2160)Gca>Aca		furry homolog (Drosophila)							122.0	121.0	121.0					13																	32747510		1962	4154	6116	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747510G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2158G>A	13.37:g.32747510G>A	ENSP00000369600:p.Ala720Thr						p.A720T	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	19	2654	+		Lung SC(185;0.0271)	720					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2158G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939465	0.52972	.	.	ENSG00000073910	ENST00000380250	T	0.23754	1.89	6.02	-4.64	0.03349	.	0.729557	0.14356	N	0.324749	T	0.13072	0.0317	N	0.04959	-0.14	0.23435	N	0.997685	B	0.18610	0.029	B	0.17433	0.018	T	0.06197	-1.0840	10	0.21014	T	0.42	.	21.2827	0.99950	0.0:0.6982:0.2469:0.0549	.	720	Q5TBA9	FRY_HUMAN	T	720	ENSP00000369600:A720T	ENSP00000369600:A720T	A	+	1	0	FRY	31645510	0.151000	0.22747	0.000000	0.03702	0.424000	0.31475	0.674000	0.25218	-1.225000	0.02578	-0.171000	0.13296	GCA		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	77	0	0	0	1	0	6	77				
STK3	6788	broad.mit.edu	37	8	99718756	99718756	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:99718756C>G	ENST00000419617.2	-	6	763	c.623G>C	c.(622-624)gGc>gCc	p.G208A	STK3_ENST00000523601.1_Missense_Mutation_p.G236A	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AGAAGTAATGCCAAGGGACCA	0.398																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(706-708)gGc>gCc		serine/threonine kinase 3							107.0	108.0	108.0					8																	99718756		2069	4243	6312	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99718756C>G	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.623G>C	8.37:g.99718756C>G	ENSP00000390500:p.Gly208Ala					STK3_ENST00000419617.2_Missense_Mutation_p.G208A	p.G236A	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	8	1106	-	Breast(36;2.4e-06)	Breast(495;0.106)	208			Protein kinase.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.707G>C	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159547	0.57368	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.71934	-0.61;-0.61	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89151	0.3523	10	0.87932	D	0	.	17.8821	0.88843	0.0:1.0:0.0:0.0	.	208;236	Q13188;B3KYA7	STK3_HUMAN;.	A	208;236	ENSP00000390500:G208A;ENSP00000429744:G236A	ENSP00000390500:G208A	G	-	2	0	STK3	99787932	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	7.794000	0.85869	2.308000	0.77769	0.563000	0.77884	GGC		0.398	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		4	97	0	0	0	1	0	4	97				
CNTN4	152330	broad.mit.edu	37	3	2944670	2944670	+	Silent	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr3:2944670C>T	ENST00000397461.1	+	11	1572	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Silent_p.N68N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	396	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTTCCAACGCAGAGCTTA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1186-1188)aaC>aaT		contactin 4							86.0	83.0	84.0					3																	2944670		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2944670C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1188C>T	3.37:g.2944670C>T						CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Silent_p.N177N	p.N396N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	11	1572	+		Ovarian(110;0.156)	396			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1188C>T	CCDS43041.1																																																																																				0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			4	51	0	0	0	1	0	4	51				
ZNF638	27332	broad.mit.edu	37	2	71654016	71654016	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr2:71654016G>T	ENST00000409544.1	+	24	5647	c.5017G>T	c.(5017-5019)Gat>Tat	p.D1673Y	ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1673					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAGAACAAGATCTCCTCAA	0.378																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5017-5019)Gat>Tat		zinc finger protein 638							80.0	80.0	80.0					2																	71654016		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654016G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5017G>T	2.37:g.71654016G>T	ENSP00000386433:p.Asp1673Tyr					ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	p.D1673Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5647	+			1673					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5017G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976382	0.74360	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.37915	1.17;1.17;1.53	5.32	5.32	0.75619	.	0.147419	0.44483	D	0.000446	T	0.45975	0.1369	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.40720	-0.9548	10	0.46703	T	0.11	-18.0374	16.5466	0.84448	0.0:0.0:1.0:0.0	.	1673;1673	Q14966-3;Q14966	.;ZN638_HUMAN	Y	1673;1673;613	ENSP00000264447:D1673Y;ENSP00000386433:D1673Y;ENSP00000386813:D613Y	ENSP00000264447:D1673Y	D	+	1	0	ZNF638	71507524	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.287000	0.65645	2.773000	0.95371	0.655000	0.94253	GAT		0.378	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		4	85	1	0	0.00024832	1	0.000266714	4	85				
TMEM71	137835	broad.mit.edu	37	8	133764058	133764058	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:133764058C>T	ENST00000356838.3	-	4	429	c.287G>A	c.(286-288)aGc>aAc	p.S96N	TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	96						integral component of membrane (GO:0016021)		p.S96T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATACATAACGCTGGTCTGGGA	0.403																																						ENST00000356838.3																			1	Substitution - Missense(1)	p.S96T(1)	ovary(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(286-288)aGc>aAc		transmembrane protein 71							162.0	147.0	152.0					8																	133764058		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133764058C>T	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.287G>A	8.37:g.133764058C>T	ENSP00000349296:p.Ser96Asn					TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N	p.S96N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	429	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		96					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.287G>A	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782189	0.31502	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187	.	.	.	5.95	4.04	0.47022	.	0.208574	0.48767	D	0.000172	T	0.40956	0.1138	M	0.63843	1.955	0.29054	N	0.88435	B;B;P	0.42692	0.433;0.25;0.787	B;B;B	0.42959	0.183;0.084;0.403	T	0.38824	-0.9643	9	0.36615	T	0.2	-0.9598	9.1924	0.37207	0.0:0.647:0.278:0.075	.	96;96;96	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	N	96	.	ENSP00000349296:S96N	S	-	2	0	TMEM71	133833240	0.999000	0.42202	0.990000	0.47175	0.148000	0.21650	1.367000	0.34204	1.507000	0.48752	0.655000	0.94253	AGC		0.403	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		7	115	0	0	0	1	0	7	115				
FMN2	56776	broad.mit.edu	37	1	240492719	240492719	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr1:240492719G>T	ENST00000319653.9	+	10	4618	c.4388G>T	c.(4387-4389)aGc>aTc	p.S1463I	FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1463	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTCAGAAAGCATTTGCTCA	0.408																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4387-4389)aGc>aTc		formin 2							160.0	149.0	153.0					1																	240492719		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492719G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4388G>T	1.37:g.240492719G>T	ENSP00000318884:p.Ser1463Ile					FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	p.S1463I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4618	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1463			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4388G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160006	0.78226	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.19394	2.15;2.15	5.65	5.65	0.86999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000001	T	0.42426	0.1202	L	0.45581	1.43	0.80722	D	1	P;P;D;P	0.76494	0.801;0.552;0.999;0.933	B;B;D;P	0.70016	0.412;0.271;0.967;0.808	T	0.13442	-1.0509	10	0.62326	D	0.03	.	19.7243	0.96157	0.0:0.0:1.0:0.0	.	59;109;92;1463	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	I	1463;59;90	ENSP00000318884:S1463I;ENSP00000437918:S59I	ENSP00000318884:S1463I	S	+	2	0	FMN2	238559342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.783000	0.62403	2.647000	0.89833	0.655000	0.94253	AGC		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	80	1	0	0.184627	1	0.184627	5	80				
LRP5L	91355	broad.mit.edu	37	22	25753228	25753228	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:25753228C>G	ENST00000402785.2	-	2	528	c.432G>C	c.(430-432)aaG>aaC	p.K144N	LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000444995.3_Missense_Mutation_p.K144N			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	144					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCACCTCGATCTTGTCTGTCT	0.657																																						ENST00000444995.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(430-432)aaG>aaC		low density lipoprotein receptor-related protein 5-like							117.0	91.0	100.0					22																	25753228		2201	4300	6501	SO:0001583	missense	91355							g.chr22:25753228C>G	AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.432G>C	22.37:g.25753228C>G	ENSP00000384562:p.Lys144Asn					LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N	p.K144N			A4QPB2	LRP5L_HUMAN			5	1132	-			144					B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	ENST00000402785.2	37	c.432G>C	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	c	10.59	1.394165	0.25205	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.96459	-4.02;-4.02;-4.02	2.25	-1.41	0.08941	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.97315	0.9122	M	0.88640	2.97	0.45662	D	0.998586	D;D	0.71674	0.997;0.998	P;D	0.65010	0.886;0.931	D	0.94999	0.8141	9	0.59425	D	0.04	.	6.4421	0.21854	0.0:0.4236:0.0:0.5764	.	144;144	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	N	144	ENSP00000384291:K144N;ENSP00000407283:K144N;ENSP00000384562:K144N	ENSP00000384562:K144N	K	-	3	2	LRP5L	24083228	1.000000	0.71417	0.962000	0.40283	0.102000	0.19082	0.872000	0.28037	-0.311000	0.08754	0.173000	0.16961	AAG		0.657	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		5	45	0	0	0	1	0	5	45				
FBXO21	23014	broad.mit.edu	37	12	117624369	117624369	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr12:117624369C>T	ENST00000330622.5	-	3	382	c.383G>A	c.(382-384)tGt>tAt	p.C128Y	FBXO21_ENST00000427718.2_Missense_Mutation_p.C128Y|FBXO21_ENST00000549689.1_5'UTR			O94952	FBX21_HUMAN	F-box protein 21	128					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GAAGCCATTACAAGGAACCTA	0.383																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(382-384)tGt>tAt		F-box protein 21							75.0	74.0	75.0					12																	117624369		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117624369C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.383G>A	12.37:g.117624369C>T	ENSP00000328187:p.Cys128Tyr					FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y|FBXO21_ENST00000549689.1_5'UTR	p.C128Y	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	3	457	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		128					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.383G>A	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971702	0.74246	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.42131	0.98;0.98	5.4	5.4	0.78164	F-box domain, Skp2-like (1);	0.126528	0.56097	D	0.000036	T	0.58906	0.2155	L	0.51422	1.61	0.58432	D	0.999996	D;D;P	0.65815	0.981;0.995;0.852	P;D;B	0.72982	0.491;0.979;0.36	T	0.50533	-0.8817	10	0.24483	T	0.36	-16.2303	18.7754	0.91910	0.0:1.0:0.0:0.0	.	44;128;128	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	Y	128;44;44;128	ENSP00000414468:C128Y;ENSP00000328187:C128Y	ENSP00000257563:C44Y	C	-	2	0	FBXO21	116108752	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.803000	0.62546	2.520000	0.84964	0.655000	0.94253	TGT		0.383	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		7	76	0	0	0	1	0	7	76				
CABIN1	23523	broad.mit.edu	37	22	24530349	24530349	+	Silent	SNP	C	C	G			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:24530349C>G	ENST00000398319.2	+	29	5098	c.4713C>G	c.(4711-4713)ctC>ctG	p.L1571L	CABIN1_ENST00000263119.5_Silent_p.L1571L|CABIN1_ENST00000405822.2_Silent_p.L1492L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1571					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGGGGCTCTTCTGCGAGA	0.532																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4711-4713)ctC>ctG		calcineurin binding protein 1							71.0	60.0	64.0					22																	24530349		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24530349C>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4713C>G	22.37:g.24530349C>G						CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L	p.L1571L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			29	5098	+			1571					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4713C>G	CCDS13823.1																																																																																				0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		3	18	0	0	0	1	0	3	18				
DNAJC2	27000	broad.mit.edu	37	7	102953049	102953049	+	Silent	SNP	T	T	C			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr7:102953049T>C	ENST00000379263.3	-	17	2083	c.1833A>G	c.(1831-1833)gaA>gaG	p.E611E	PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCAGCACTTGTTCTTGAGCAG	0.328																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1831-1833)gaA>gaG		DnaJ (Hsp40) homolog, subfamily C, member 2							179.0	159.0	166.0					7																	102953049		1855	4101	5956	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953049T>C	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1833A>G	7.37:g.102953049T>C						PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000420236.2_Intron	p.E611E	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			17	2083	-			611					A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.1833A>G	CCDS43628.1																																																																																				0.328	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			6	91	0	0	0	1	0	6	91				
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	lincRNA	SNP	G	G	A	rs9730434	byFrequency	TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr1:16959698G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657																																						ENST00000412962.1																			4	Substitution - coding silent(4)	p.H56H(4)	prostate(3)|endometrium(1)																																																0							g.chr1:16959698G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959698G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	38	0	0	0	1	0	4	38				
FAM83F	113828	broad.mit.edu	37	22	40415250	40415250	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:40415250G>C	ENST00000333407.6	+	2	662	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	FAM83F_ENST00000473717.1_Missense_Mutation_p.V22L	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	190										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TAAGCGCCGGGTCCCAGTGTA	0.532																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(568-570)Gtc>Ctc		family with sequence similarity 83, member F							185.0	143.0	157.0					22																	40415250		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40415250G>C		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.568G>C	22.37:g.40415250G>C	ENSP00000330432:p.Val190Leu					FAM83F_ENST00000473717.1_3'UTR	p.V190L	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			2	662	+			190					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.568G>C	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348832	0.82132	.	.	ENSG00000133477	ENST00000333407	T	0.20738	2.05	4.94	4.94	0.65067	.	0.067471	0.64402	D	0.000014	T	0.45074	0.1324	M	0.89414	3.03	0.48830	D	0.999716	D	0.58970	0.984	P	0.55871	0.786	T	0.52540	-0.8562	10	0.66056	D	0.02	-45.389	12.1949	0.54292	0.0888:0.0:0.9111:0.0	.	190	Q8NEG4	FA83F_HUMAN	L	190	ENSP00000330432:V190L	ENSP00000330432:V190L	V	+	1	0	FAM83F	38745196	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.872000	0.75536	2.560000	0.86352	0.561000	0.74099	GTC		0.532	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		3	83	0	0	0	1	0	3	83				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	37	0	0	0	1	0	3	37				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	48	0	0	0	1	0	4	48				
AC113618.1	0	broad.mit.edu	37	2	239644014	239644014	+	lincRNA	DEL	T	T	-			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr2:239644014delT	ENST00000448543.1	+	0	98																											ttttaacttcttttttgggct	0.408																																						ENST00000448543.1																			0																																																			0							g.chr2:239644014delT																													2.37:g.239644014delT														0	98	+									RNA	DEL	ENST00000448543.1	37																																																																																						0.408	AC113618.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000328260.1			2	4						2	4	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195701310	195701311	+	RNA	INS	-	-	AA	rs369138533		TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr3:195701310_195701311insAA	ENST00000427841.1	-	0	1513_1514					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CATGCCTGACCAGACAACCAGG	0.574																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701310_195701311insAA	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701310_195701311insAA								NR_003264.2						0	1513_1514	-									RNA	INS	ENST00000427841.1	37																																																																																						0.574	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	48						7	48	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		5	6						5	6	---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35480857	35480857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr14:35480857delA	ENST00000556994.1	+	9	1025	c.628delA	c.(628-630)aatfs	p.N210fs	SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs			P61011	SRP54_HUMAN	signal recognition particle 54kDa	210	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TCAAGTTGCTAATGCTATAGT	0.274																																						ENST00000556994.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(628-630)atfs		signal recognition particle 54kDa							57.0	60.0	59.0					14																	35480857		2203	4298	6501	SO:0001589	frameshift_variant	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35480857delA	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.628delA	14.37:g.35480857delA	ENSP00000451818:p.Asn210fs					SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs	p.N210fs			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	9	1025	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		210			G-domain.		B2R759|B4DUW6|P13624	Frame_Shift_Del	DEL	ENST00000556994.1	37	c.628delA	CCDS9652.1																																																																																				0.274	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		9	174						9	174	---	---	---	---
