#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NCDN	23154	broad.mit.edu	37	1	36028872	36028872	+	Silent	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:36028872G>T	ENST00000373243.2	+	5	1838	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	485					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAAGGAAGGGGCCCCCTCGC	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1453-1455)ggG>ggT		neurochondrin							67.0	68.0	68.0					1																	36028872		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028872G>T	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1455G>T	1.37:g.36028872G>T						NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	p.G485G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			5	1838	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	485					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1455G>T	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895704	0.17686	.	.	ENSG00000020129	ENST00000423723	.	.	.	4.53	-2.96	0.05547	.	0.125717	0.53938	D	0.000044	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52003	-0.8633	6	0.87932	D	0	.	3.2233	0.06723	0.2974:0.1081:0.4831:0.1114	.	.	.	.	V	79	.	ENSP00000407339:G79V	G	+	2	0	NCDN	35801459	0.998000	0.40836	0.986000	0.45419	0.957000	0.61999	0.408000	0.21065	-0.617000	0.05664	-2.048000	0.00412	GGG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		13	48	13	48	---	---	---	---
MYEOV2	150678	broad.mit.edu	37	2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	rs142104600		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:241066272A>G	ENST00000307266.3	-	5	466	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGGTAAACATTAGCGCCTC	0.537																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(466-468)aTg>aCg		myeloma overexpressed 2		A	THR/MET	0,4406		0,0,2203	195.0	203.0	200.0		467	-3.8	0.0	2	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYEOV2	NM_138336.1	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	156/253	241066272	1,13005	2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066272A>G	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.467T>C	2.37:g.241066272A>G	ENSP00000304147:p.Met156Thr						p.M156T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	466	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.467T>C	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	A	1.540	-0.542059	0.04053	0.0	1.16E-4	ENSG00000172428	ENST00000307266	.	.	.	2.01	-3.79	0.04320	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	7	0.87932	D	0	.	8.3742	0.32434	0.321:0.0:0.679:0.0	.	156	Q8WXC6-1	.	T	156	.	ENSP00000304147:M156T	M	-	2	0	MYEOV2	240714945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.291000	0.08343	-1.087000	0.03081	-1.039000	0.02377	ATG		0.537	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		4	117	4	117	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38802756	38802756	+	Silent	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:38802756G>T	ENST00000449082.2	-	6	809	c.810C>A	c.(808-810)ggC>ggA	p.G270G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	270					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTTGAGGTTGCCCTTGAAGA	0.473																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(808-810)ggC>ggA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						121.0	103.0	109.0					3																	38802756		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38802756G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.810C>A	3.37:g.38802756G>T							p.G270G	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	6	809	-			270					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.810C>A	CCDS33736.1																																																																																				0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		4	51	4	51	---	---	---	---
CCDC66	285331	broad.mit.edu	37	3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:56627995T>A	ENST00000394672.3	+	10	1413	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H|CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	448					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGACTGCTCTCTTGGACCCA	0.373																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1342-1344)cTc>cAc		coiled-coil domain containing 66							180.0	167.0	172.0					3																	56627995		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56627995T>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1343T>A	3.37:g.56627995T>A	ENSP00000378167:p.Leu448His					CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H	p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	10	1413	+			448					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1343T>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880810	0.72294	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.96	5.96	0.96718	.	0.062942	0.64402	D	0.000003	T	0.72969	0.3527	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76642	-0.2884	10	0.87932	D	0	-6.7415	14.658	0.68847	0.0:0.0:0.0:1.0	.	448	A2RUB6	CCD66_HUMAN	H	404;448;414;448	ENSP00000401451:L404H;ENSP00000378167:L448H;ENSP00000326050:L414H;ENSP00000404320:L448H	ENSP00000326050:L414H	L	+	2	0	CCDC66	56603035	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.287000	0.65645	2.274000	0.75844	0.477000	0.44152	CTC		0.373	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		18	76	18	76	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr4:55946268C>T	ENST00000263923.4	-	30	4206	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1304					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGACTGGTAGCCGCTTGTCTG	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3910-3912)gGc>gAc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						168.0	161.0	164.0					4																	55946268		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946268C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3911G>A	4.37:g.55946268C>T	ENSP00000263923:p.Gly1304Asp	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.G1304D	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4206	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1304					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3911G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323543	0.41096	.	.	ENSG00000128052	ENST00000263923	T	0.76060	-0.99	5.62	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	L	0.33245	0.995	0.80722	D	1	P	0.49783	0.928	B	0.42343	0.384	T	0.60367	-0.7277	10	0.27785	T	0.31	.	10.732	0.46102	0.0:0.8549:0.0:0.1451	.	1304	P35968	VGFR2_HUMAN	D	1304	ENSP00000263923:G1304D	ENSP00000263923:G1304D	G	-	2	0	KDR	55641025	1.000000	0.71417	0.994000	0.49952	0.767000	0.43475	4.685000	0.61693	1.395000	0.46643	0.650000	0.86243	GGC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	111	5	111	---	---	---	---
FAM8A1	51439	broad.mit.edu	37	6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:17605181A>G	ENST00000259963.3	+	3	933	c.878A>G	c.(877-879)gAt>gGt	p.D293G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	293	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GAAGAAATAGATGAAGACACA	0.323																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(877-879)gAt>gGt		family with sequence similarity 8, member A1							101.0	107.0	105.0					6																	17605181		2202	4300	6502	SO:0001583	missense	51439					integral to membrane		g.chr6:17605181A>G	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.878A>G	6.37:g.17605181A>G	ENSP00000259963:p.Asp293Gly						p.D293G	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		3	933	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	293			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.878A>G	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356210	0.82243	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.84	4.63	0.57726	RDD (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75465	-0.3308	9	0.62326	D	0.03	-12.7336	12.424	0.55536	0.8746:0.0:0.0:0.1254	.	293	Q9UBU6	FA8A1_HUMAN	G	43;293	.	ENSP00000259963:D293G	D	+	2	0	FAM8A1	17713160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.907000	0.92634	2.230000	0.72887	0.455000	0.32223	GAT		0.323	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			8	33	8	33	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100681501	100681501	+	Silent	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:100681501C>T	ENST00000306151.4	+	3	6868	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2268	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATACCAACTT	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6802-6804)agC>agT		mucin 17, cell surface associated							265.0	268.0	267.0					7																	100681501		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681501C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6804C>T	7.37:g.100681501C>T							p.S2268S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6868	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2268			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6804C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		42	270	42	270	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:107580636C>T	ENST00000222399.6	-	25	3789	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	LAMB1_ENST00000393561.1_Missense_Mutation_p.D1211N|CTB-13F3.1_ENST00000608515.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1187	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ATGATCACATCCCAGAGAGCA	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3631-3633)Gat>Aat		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	115.0	126.0					7																	107580636		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580636C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3559G>A	7.37:g.107580636C>T	ENSP00000222399:p.Asp1187Asn					LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N	p.D1211N			P07942	LAMB1_HUMAN			23	3815	-			1187			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3631G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896508	0.72639	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.35973	1.28;1.28	5.22	4.32	0.51571	.	.	.	.	.	T	0.35970	0.0950	L	0.46157	1.445	0.80722	D	1	B;B	0.29162	0.235;0.171	B;B	0.33339	0.162;0.121	T	0.33137	-0.9880	9	0.72032	D	0.01	.	14.2363	0.65929	0.0:0.9272:0.0:0.0728	.	1187;1211	P07942;G3XAI2	LAMB1_HUMAN;.	N	1211;1187	ENSP00000377191:D1211N;ENSP00000222399:D1187N	ENSP00000222399:D1187N	D	-	1	0	LAMB1	107367872	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.615000	0.67702	2.712000	0.92718	0.563000	0.77884	GAT		0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	94	11	94	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116191656	116191656	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr9:116191656G>T	ENST00000288462.4	+	14	1822	c.1376G>T	c.(1375-1377)gGg>gTg	p.G459V	C9orf43_ENST00000374165.1_Missense_Mutation_p.G459V	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	459										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CAGTCCTCTGGGGCAGAGTGA	0.527																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(1375-1377)gGg>gTg		chromosome 9 open reading frame 43							30.0	32.0	31.0					9																	116191656		2203	4299	6502	SO:0001583	missense	257169							g.chr9:116191656G>T	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1376G>T	9.37:g.116191656G>T	ENSP00000288462:p.Gly459Val					C9orf43_ENST00000374165.1_Missense_Mutation_p.G459V	p.G459V	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			14	1822	+			459						Missense_Mutation	SNP	ENST00000288462.4	37	c.1376G>T	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	5.998	0.368059	0.11352	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.51574	0.7;0.7	3.84	-0.819	0.10829	.	0.865766	0.09625	N	0.777004	T	0.28863	0.0716	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.20907	-1.0261	10	0.44086	T	0.13	-0.5938	4.3248	0.11034	0.275:0.0:0.554:0.171	.	459	Q8TAL5	CI043_HUMAN	V	459	ENSP00000363280:G459V;ENSP00000288462:G459V	ENSP00000288462:G459V	G	+	2	0	C9orf43	115231477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.055000	0.14229	-0.153000	0.11137	-1.287000	0.01368	GGG		0.527	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		3	31	3	31	---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr10:95405746G>C	ENST00000371447.3	+	15	2015	c.1877G>C	c.(1876-1878)gGt>gCt	p.G626A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	626					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGACTTCATGGTTCTTCTATT	0.403																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1876-1878)gGt>gCt		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							189.0	164.0	173.0					10																	95405746		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95405746G>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1877G>C	10.37:g.95405746G>C	ENSP00000360502:p.Gly626Ala						p.G626A	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			15	2015	+		Colorectal(252;0.123)	626					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1877G>C	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910695	0.72983	.	.	ENSG00000095464	ENST00000371447	T	0.77358	-1.09	5.31	5.31	0.75309	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044250	0.85682	D	0.000000	D	0.88074	0.6339	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.88987	0.3412	10	0.66056	D	0.02	.	17.3412	0.87297	0.0:0.0:1.0:0.0	.	626	P51160	PDE6C_HUMAN	A	626	ENSP00000360502:G626A	ENSP00000360502:G626A	G	+	2	0	PDE6C	95395736	1.000000	0.71417	0.989000	0.46669	0.446000	0.32137	8.373000	0.90131	2.763000	0.94921	0.563000	0.77884	GGT		0.403	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		8	37	8	37	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr13:100617974G>C	ENST00000267294.4	-	2	1882	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	550					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTAGTAGGGCTTGTCACT	0.493																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1648-1650)cCc>cGc		Zic family member 5							197.0	173.0	181.0					13																	100617974		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617974G>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1649C>G	13.37:g.100617974G>C	ENSP00000267294:p.Pro550Arg						p.P550R	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	1882	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		550					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1649C>G	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379946	0.82682	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.20738	2.05	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48502	0.1503	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	9	0.87932	D	0	.	19.6578	0.95851	0.0:0.0:1.0:0.0	.	550	Q96T25	ZIC5_HUMAN	R	188;550	ENSP00000267294:P550R	ENSP00000267294:P550R	P	-	2	0	ZIC5	99415975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.722000	0.93159	0.655000	0.94253	CCC		0.493	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		19	81	19	81	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54558083	54558083	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:54558083G>A	ENST00000318698.2	+	16	2039	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	ANKFN1_ENST00000566473.2_Silent_p.V668V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	668										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAAGTGTGGATCATACTT	0.413																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2002-2004)gtG>gtA		ankyrin-repeat and fibronectin type III domain containing 1							183.0	172.0	175.0					17																	54558083		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54558083G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2004G>A	17.37:g.54558083G>A						ANKFN1_ENST00000318698.2_Silent_p.V668V	p.V668V			Q8N957	ANKF1_HUMAN			16	2004	+			668						Silent	SNP	ENST00000318698.2	37	c.2004G>A	CCDS32686.1																																																																																				0.413	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	116	13	116	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:57733350G>A	ENST00000269122.3	+	6	1205	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)	p.A311S(1)	lung(1)	breast(2)|large_intestine(6)|ovary(1)	9						c.(931-933)Gcc>Acc		clathrin, heavy chain (Hc)							115.0	114.0	115.0					17																	57733350		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733350G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.931G>A	17.37:g.57733350G>A	ENSP00000269122:p.Ala311Thr					CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	p.A311T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			6	1205	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		311			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.931G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140713	0.56936	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22134	1.97;1.97	5.73	5.73	0.89815	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.049421	0.85682	D	0.000000	T	0.26846	0.0657	L	0.55481	1.735	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.25140	0.058;0.012	T	0.02766	-1.1113	10	0.30078	T	0.28	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	311;311	Q00610;Q00610-2	CLH1_HUMAN;.	T	311	ENSP00000269122:A311T;ENSP00000376763:A311T	ENSP00000269122:A311T	A	+	1	0	CLTC	55088132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.698000	0.92095	0.591000	0.81541	GCC		0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		15	51	15	51	---	---	---	---
ZNF396	252884	broad.mit.edu	37	18	32949299	32949299	+	Missense_Mutation	SNP	C	C	A	rs535231827		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr18:32949299C>A	ENST00000589332.1	-	4	1019	c.888G>T	c.(886-888)caG>caT	p.Q296H	ZNF396_ENST00000306346.1_Missense_Mutation_p.Q296H			Q96N95	ZN396_HUMAN	zinc finger protein 396	296					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTCGTCGATGCTGAATCAGAA	0.448																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(886-888)caG>caT		zinc finger protein 396							96.0	93.0	94.0					18																	32949299		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949299C>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.888G>T	18.37:g.32949299C>A	ENSP00000466500:p.Gln296His					ZNF396_ENST00000589332.1_Missense_Mutation_p.Q296H	p.Q296H	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	1019	-			296					A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.888G>T		.	.	.	.	.	.	.	.	.	.	C	7.606	0.673805	0.14841	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.36157	1.27	3.96	2.15	0.27550	.	0.000000	0.35436	U	0.003207	T	0.42743	0.1216	L	0.35487	1.065	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.14727	-1.0462	10	0.42905	T	0.14	.	8.2139	0.31499	0.0:0.7965:0.0:0.2035	.	296	Q96N95-3	.	H	296	ENSP00000302310:Q296H	ENSP00000302310:Q296H	Q	-	3	2	ZNF396	31203297	0.000000	0.05858	0.998000	0.56505	0.394000	0.30568	-1.553000	0.02174	0.445000	0.26639	0.650000	0.86243	CAG		0.448	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		3	48	3	48	---	---	---	---
GEMIN7	79760	broad.mit.edu	37	19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000221462.4_5'Flank|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AACTCCAGTGAACATTCCCGT	0.577																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(16-18)Aac>Gac		gem (nuclear organelle) associated protein 7							93.0	103.0	100.0					19																	45593388		2203	4296	6499	SO:0001583	missense	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593388A>G	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.16A>G	19.37:g.45593388A>G	ENSP00000270257:p.Asn6Asp					GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586744.1_RNA	p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	263	+		Ovarian(192;0.0728)|all_neural(266;0.112)	6					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.16A>G	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	A	9.853	1.194246	0.22037	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	4.3	-8.59	0.00893	.	1.732480	0.02806	N	0.123719	T	0.20780	0.0500	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	9	0.15066	T	0.55	-0.025	12.2327	0.54497	0.137:0.3509:0.5121:0.0	.	6	Q9H840	GEMI7_HUMAN	D	6	.	ENSP00000270257:N6D	N	+	1	0	GEMIN7	50285228	0.000000	0.05858	0.000000	0.03702	0.441000	0.31987	-1.298000	0.02756	-2.627000	0.00436	0.449000	0.29647	AAC		0.577	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			35	134	35	134	---	---	---	---
SSX5	6758	broad.mit.edu	37	X	48054234	48054234	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:48054234G>A	ENST00000376923.1	-	2	125	c.126C>T	c.(124-126)gcC>gcT	p.A42A	SSX5_ENST00000311798.1_Silent_p.A83A|SSX5_ENST00000347757.1_Silent_p.A42A			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TTTTCTCCGAGGCTTTCATCT	0.388																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(247-249)gcC>gcT		synovial sarcoma, X breakpoint 5							132.0	113.0	120.0					X																	48054234		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054234G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.126C>T	X.37:g.48054234G>A						SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A	p.A83A	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			4	301	-			42			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.249C>T	CCDS14289.1																																																																																				0.388	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		14	30	14	30	---	---	---	---
