#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
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		Somatic				FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	p.S1463I	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---
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_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	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		Somatic				ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	p.D1673Y	NM_001252612.1	NP_001239541.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---
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_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR	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			Somatic				CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR	p.N396N	NM_001206955.1	NP_001193884.1	WXS	Illumina GAIIx	Phase_I	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	4	51	---	---	---	---
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	DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000249269.4_3'UTR|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			Somatic				PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000249269.4_3'UTR	p.E611E	NM_014377.1	NP_055192.1	WXS	Illumina GAIIx	Phase_I	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	6	91	---	---	---	---
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_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N	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		Somatic				TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N	p.S96N	NM_144649.2	NP_653250.2	WXS	Illumina GAIIx	Phase_I	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	7	115	---	---	---	---
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			Somatic				PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	p.P237P	NM_001135219.1	NP_001128691.1	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---
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		Somatic					p.V158I	NM_001001965.1	NP_001001965.1	WXS	Illumina GAIIx	Phase_I	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	4	91	---	---	---	---
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_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Missense_Mutation_p.C128Y			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		Somatic				FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y	p.C128Y	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	WXS	Illumina GAIIx	Phase_I	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	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			Somatic				CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L	p.L1571L	NM_001199281.1	NP_001186210.1	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---
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_ENST00000444995.3_Missense_Mutation_p.K144N|LRP5L_ENST00000402859.2_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		Somatic				LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N	p.K144N			WXS	Illumina GAIIx	Phase_I	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	5	45	---	---	---	---
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																																						ENST00000333407.6																			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		Somatic				FAM83F_ENST00000473717.1_Missense_Mutation_p.V22L	p.V190L	NM_138435.2	NP_612444.2	WXS	Illumina GAIIx	Phase_I	Q8NEG4	FA83F_HUMAN			2	662	+								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	3	83	---	---	---	---
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_ENST00000555557.1_Frame_Shift_Del_p.N146fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs			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)aatfs		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		Somatic				SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs	p.N210fs			WXS	Illumina GAIIx	Phase_I	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	---	---	---	---
