#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
INADL	10207	broad.mit.edu	37	1	62257043	62257043	+	Silent	SNP	T	T	C	rs200802733		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:62257043T>C	ENST00000371158.2	+	9	1206	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	INADL_ENST00000316485.6_Silent_p.Y364Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	364					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGAAACTTATAATGTTGAGC	0.323																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1090-1092)taT>taC		InaD-like (Drosophila)							97.0	102.0	100.0					1																	62257043		2203	4300	6503	SO:0001819	synonymous_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62257043T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1092T>C	1.37:g.62257043T>C						INADL_ENST00000316485.6_Silent_p.Y364Y	p.Y364Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN			9	1206	+			364					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	c.1092T>C	CCDS617.2																																																																																				0.323	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		19	34	19	34	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186024595	186024595	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:186024595C>T	ENST00000271588.4	+	45	7162	c.6933C>T	c.(6931-6933)tcC>tcT	p.S2311S	HMCN1_ENST00000367492.2_Silent_p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2311	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTATCTCCTTGGAGTGTG	0.478																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6931-6933)tcC>tcT		hemicentin 1							91.0	85.0	87.0					1																	186024595		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024595C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6933C>T	1.37:g.186024595C>T						HMCN1_ENST00000367492.2_Silent_p.S2311S	p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			45	7162	+			2311			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6933C>T	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	37	10	37	---	---	---	---
CFHR1	3078	broad.mit.edu	37	1	196794779	196794779	+	Missense_Mutation	SNP	G	G	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:196794779G>T	ENST00000320493.5	+	2	319	c.231G>T	c.(229-231)tgG>tgT	p.W77C	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	77	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGAAGGATGGTCACCAACAC	0.388																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(229-231)tgG>tgT		complement factor H-related 1							72.0	72.0	72.0					1																	196794779		1873	4113	5986	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196794779G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.231G>T	1.37:g.196794779G>T	ENSP00000314299:p.Trp77Cys					CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.W77C	p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			2	319	+			77			Sushi 1.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.231G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.355367	0.82243	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	D;D	0.88509	-2.39;-2.39	4.18	4.18	0.49190	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.94637	0.8271	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95228	0.8340	9	0.87932	D	0	.	12.0231	0.53354	0.0:0.0:1.0:0.0	.	77	Q03591	FHR1_HUMAN	C	77	ENSP00000356394:W77C;ENSP00000314299:W77C	ENSP00000314299:W77C	W	+	3	0	CFHR1	195061402	0.997000	0.39634	0.956000	0.39512	0.990000	0.78478	2.134000	0.42102	1.882000	0.54519	0.430000	0.28490	TGG		0.388	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		13	50	13	50	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228444396	228444396	+	Missense_Mutation	SNP	G	G	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:228444396G>T	ENST00000422127.1	+	15	4398	c.4354G>T	c.(4354-4356)Gtg>Ttg	p.V1452L	OBSCN_ENST00000570156.2_Missense_Mutation_p.V1544L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1452	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCACAGGGAGGTGCAGGCCCA	0.617																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4630-4632)Gtg>Ttg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							44.0	46.0	45.0					1																	228444396		2053	4189	6242	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444396G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4354G>T	1.37:g.228444396G>T	ENSP00000409493:p.Val1452Leu					OBSCN_ENST00000422127.1_Missense_Mutation_p.V1452L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000366707.4_5'UTR	p.V1544L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4704	+		Prostate(94;0.0405)	521			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4630G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.868316	0.51588	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69561	-0.41;-0.41;-0.41	4.7	4.7	0.59300	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181728	0.35179	N	0.003392	T	0.64940	0.2644	L	0.53617	1.68	0.80722	D	1	B;P	0.40638	0.011;0.725	B;B	0.41374	0.022;0.355	T	0.64110	-0.6484	10	0.26408	T	0.33	.	17.6128	0.88059	0.0:0.0:1.0:0.0	.	1452;1452	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	1452;1452;16	ENSP00000284548:V1452L;ENSP00000409493:V1452L;ENSP00000352613:V16L	ENSP00000284548:V1452L	V	+	1	0	OBSCN	226511019	1.000000	0.71417	0.964000	0.40570	0.105000	0.19272	4.030000	0.57260	2.157000	0.67596	0.491000	0.48974	GTG		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	45	15	45	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112559	18112559	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:18112559G>A	ENST00000403915.1	+	3	735	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	95					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGGAGCTGTGCGTATTCTCA	0.473																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(283-285)tGc>tAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							119.0	121.0	120.0					2																	18112559		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112559G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.284G>A	2.37:g.18112559G>A	ENSP00000385968:p.Cys95Tyr					KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	p.C95Y	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN			3	735	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		95					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.284G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664240	0.47572	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.78126	-1.15;-1.15	5.7	5.7	0.88788	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.042955	0.85682	N	0.000000	D	0.90297	0.6965	M	0.87328	2.875	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90962	0.4813	10	0.87932	D	0	.	20.1982	0.98246	0.0:0.0:1.0:0.0	.	95	Q9BQ31	KCNS3_HUMAN	Y	95	ENSP00000385968:C95Y;ENSP00000305824:C95Y	ENSP00000305824:C95Y	C	+	2	0	KCNS3	17976040	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	9.813000	0.99286	2.848000	0.98002	0.655000	0.94253	TGC		0.473	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		33	84	33	84	---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113958986	113958986	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:113958986G>A	ENST00000245796.6	+	17	3360	c.3165G>A	c.(3163-3165)caG>caA	p.Q1055Q	PSD4_ENST00000441564.3_Silent_p.Q1026Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	1055					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGCAATCAGCTGTGAAGCC	0.562																																						ENST00000441564.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3076-3078)caG>caA		pleckstrin and Sec7 domain containing 4							84.0	74.0	78.0					2																	113958986		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113958986G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.3165G>A	2.37:g.113958986G>A						PSD4_ENST00000245796.6_Silent_p.Q1055Q	p.Q1026Q			Q8NDX1	PSD4_HUMAN			17	3247	+								A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.3078G>A	CCDS33276.1																																																																																				0.562	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		12	24	12	24	---	---	---	---
CD14	929	broad.mit.edu	37	5	140012472	140012472	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140012472G>A	ENST00000302014.6	-	2	726	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	CD14_ENST00000401743.2_Missense_Mutation_p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	33					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACGCAGCGGAAATCTTCA	0.612																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(97-99)Cgc>Tgc		CD14 molecule							54.0	53.0	53.0					5																	140012472		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012472G>A		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.97C>T	5.37:g.140012472G>A	ENSP00000304236:p.Arg33Cys					CD14_ENST00000401743.2_Missense_Mutation_p.R33C	p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	726	-			33					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.97C>T	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705119	0.68615	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971;ENST00000519715;ENST00000512545	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.78	4.83	0.62350	.	0.429939	0.19444	N	0.114109	D	0.94165	0.8128	L	0.55990	1.75	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	D	0.87852	0.2658	10	0.72032	D	0.01	-10.0416	12.7986	0.57573	0.0:0.0:0.8259:0.1741	.	33	P08571	CD14_HUMAN	C	33	ENSP00000304236:R33C;ENSP00000385519:R33C;ENSP00000426543:R33C;ENSP00000430884:R33C;ENSP00000425447:R33C	ENSP00000304236:R33C	R	-	1	0	CD14	139992656	0.216000	0.23585	0.338000	0.25549	0.020000	0.10135	1.044000	0.30329	2.735000	0.93741	0.655000	0.94253	CGC		0.612	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		3	18	3	18	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140187407	140187407	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140187407T>C	ENST00000530339.1	+	1	635	c.635T>C	c.(634-636)cTc>cCc	p.L212P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTAGTGCTCACAGCCACT	0.468																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(634-636)cTc>cCc									51.0	58.0	55.0					5																	140187407		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140187407T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.635T>C	5.37:g.140187407T>C	ENSP00000435300:p.Leu212Pro					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P	p.L212P	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	635	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.635T>C	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	t	12.79	2.043654	0.36085	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.42513	0.97;0.97;0.97	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.36066	U	0.002815	T	0.79240	0.4412	H	0.99507	4.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.997	D	0.88082	0.2807	10	0.87932	D	0	.	13.8071	0.63238	0.0:0.0:0.0:1.0	.	212;212;212	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	P	212	ENSP00000423470:L212P;ENSP00000349344:L212P;ENSP00000435300:L212P	ENSP00000349344:L212P	L	+	2	0	PCDHA4	140167591	0.992000	0.36948	0.097000	0.21041	0.126000	0.20510	7.997000	0.88414	1.735000	0.51646	0.383000	0.25322	CTC		0.468	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		24	62	24	62	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140811043	140811043	+	Silent	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140811043A>G	ENST00000252085.3	+	1	859	c.717A>G	c.(715-717)gcA>gcG	p.A239A	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCACCAGCGTTTG	0.657																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(715-717)gcA>gcG									54.0	55.0	55.0					5																	140811043		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140811043A>G	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.717A>G	5.37:g.140811043A>G						PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A239A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	859	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.717A>G	CCDS4260.1																																																																																				0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		14	41	14	41	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43403887	43403887	+	Missense_Mutation	SNP	G	G	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:43403887G>C	ENST00000372530.4	+	6	1992	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.E565Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	593					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCCCTGCAGAGCCATCTAC	0.498																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1693-1695)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							117.0	119.0	119.0					6																	43403887		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403887G>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1777G>C	6.37:g.43403887G>C	ENSP00000361608:p.Glu593Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.E593Q	p.E565Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	2052	+	all_lung(25;0.00536)		593					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1693G>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232514	0.22626	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.91631	-2.44;-2.88;-2.87	5.63	4.67	0.58626	.	0.420235	0.25052	N	0.033516	T	0.77955	0.4208	L	0.31294	0.92	0.23862	N	0.996633	B;B	0.24132	0.098;0.047	B;B	0.28553	0.091;0.024	T	0.65894	-0.6057	10	0.23302	T	0.38	-18.491	11.9865	0.53151	0.0914:0.0:0.9086:0.0	.	565;593	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	149;593;565	ENSP00000361593:E149Q;ENSP00000361608:E593Q;ENSP00000244533:E565Q	ENSP00000244533:E565Q	E	+	1	0	ABCC10	43511865	0.805000	0.28982	0.770000	0.31555	0.369000	0.29798	3.251000	0.51453	1.219000	0.43474	0.462000	0.41574	GAG		0.498	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		42	116	42	116	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51935833	51935833	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:51935833A>G	ENST00000371117.3	-	9	913	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	213	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGGCACTGCAGAGTCCCAAG	0.413																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(637-639)cTg>cCg		polycystic kidney and hepatic disease 1 (autosomal recessive)							99.0	95.0	97.0					6																	51935833		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935833A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.638T>C	6.37:g.51935833A>G	ENSP00000360158:p.Leu213Pro					PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			9	913	-	Lung NSC(77;0.0605)		213			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.638T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206153	0.39003	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89617	-2.35;-2.54	5.18	5.18	0.71444	.	0.384185	0.21689	N	0.070607	D	0.85609	0.5736	L	0.50333	1.59	0.46654	D	0.99914	P;B	0.36909	0.573;0.437	P;B	0.45071	0.468;0.143	D	0.87631	0.2516	10	0.66056	D	0.02	.	12.957	0.58434	1.0:0.0:0.0:0.0	.	213;213	P08F94-2;P08F94	.;PKHD1_HUMAN	P	213	ENSP00000360158:L213P;ENSP00000341097:L213P	ENSP00000341097:L213P	L	-	2	0	PKHD1	52043792	1.000000	0.71417	0.991000	0.47740	0.015000	0.08874	5.203000	0.65174	2.178000	0.69098	0.529000	0.55759	CTG		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		18	62	18	62	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422424	64422424	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:64422424A>G	ENST00000262043.3	+	16	5280	c.4940A>G	c.(4939-4941)aAc>aGc	p.N1647S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S			Q92576	PHF3_HUMAN	PHD finger protein 3	1647					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGTTTATCAACCTGAAAAGG	0.433																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4939-4941)aAc>aGc		PHD finger protein 3							53.0	52.0	52.0					6																	64422424		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422424A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4940A>G	6.37:g.64422424A>G	ENSP00000262043:p.Asn1647Ser					PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S	p.N1647S			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5280	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1647					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4940A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782233	0.31502	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.23754	1.89;1.89	6.07	6.07	0.98685	.	0.000000	0.43260	D	0.000593	T	0.06826	0.0174	N	0.24115	0.695	0.41272	D	0.986852	P	0.42692	0.787	B	0.33121	0.158	T	0.18808	-1.0325	9	.	.	.	-18.2361	10.8883	0.46981	0.9305:0.0:0.0695:0.0	.	1647	Q92576	PHF3_HUMAN	S	1647	ENSP00000262043:N1647S;ENSP00000377048:N1647S	.	N	+	2	0	PHF3	64480383	0.999000	0.42202	0.999000	0.59377	0.858000	0.48976	3.718000	0.54919	2.326000	0.78906	0.533000	0.62120	AAC		0.433	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	19	5	19	---	---	---	---
RAET1E	135250	broad.mit.edu	37	6	150211114	150211114	+	Missense_Mutation	SNP	T	T	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:150211114T>A	ENST00000357183.4	-	2	385	c.253A>T	c.(253-255)Agc>Tgc	p.S85C	RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	85	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCCCAAGTGCTGGTGGCATAT	0.493																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(253-255)Agc>Tgc		retinoic acid early transcript 1E							107.0	98.0	101.0					6																	150211114		2203	4300	6503	SO:0001583	missense	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150211114T>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.253A>T	6.37:g.150211114T>A	ENSP00000349709:p.Ser85Cys					RAET1E_ENST00000357183.4_Missense_Mutation_p.S85C|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA	p.S85C	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	599	-		Ovarian(120;0.0907)	85			MHC class I alpha-1 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Missense_Mutation	SNP	ENST00000357183.4	37	c.253A>T	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679685	0.47886	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	3.73	1.37	0.22104	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.812302	0.10943	N	0.617051	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.975;0.965	T	0.29941	-0.9995	10	0.72032	D	0.01	-7.3823	5.1791	0.15150	0.0:0.2422:0.0:0.7578	.	85;49;85	Q8TD07;Q8TD07-2;Q8TD07-3	N2DL4_HUMAN;.;.	C	85;85;49;85	ENSP00000437067:S85C;ENSP00000349709:S85C;ENSP00000356332:S49C;ENSP00000432366:S85C	ENSP00000349709:S85C	S	-	1	0	RAET1E	150252807	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.604000	0.05667	0.300000	0.22699	0.482000	0.46254	AGC		0.493	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		6	47	6	47	---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144810218	144810218	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr8:144810218G>A	ENST00000388913.3	-	5	1538	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	471					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCGAACAGGCCTTGCGGGC	0.716																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(1411-1413)ggC>ggT		family with sequence similarity 83, member H							23.0	33.0	29.0					8																	144810218		2019	4144	6163	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144810218G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1413C>T	8.37:g.144810218G>A							p.G471G	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	1538	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		471					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.1413C>T	CCDS6410.2																																																																																				0.716	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		3	5	3	5	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95557115	95557115	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:95557115T>C	ENST00000371418.4	+	8	1489	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I362T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	410					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.I410T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CGTCCTGTAATTTATCAGTGG	0.423																																						ENST00000371418.4																			1	Substitution - Missense(1)	p.I410T(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1228-1230)aTt>aCt		leucine-rich, glioma inactivated 1							110.0	98.0	102.0					10																	95557115		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557115T>C	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1229T>C	10.37:g.95557115T>C	ENSP00000360472:p.Ile410Thr					LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	p.I410T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1489	+		Colorectal(252;0.124)	410					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1229T>C	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.296106	0.60086	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.86497	-2.13;-2.13	5.17	5.17	0.71159	.	0.156350	0.56097	D	0.000028	D	0.90317	0.6971	L	0.59436	1.845	0.80722	D	1	P;D	0.59357	0.952;0.985	P;P	0.57009	0.523;0.811	D	0.91483	0.5206	10	0.87932	D	0	-11.7938	15.1922	0.73053	0.0:0.0:0.0:1.0	.	362;410	O95970-3;O95970	.;LGI1_HUMAN	T	362;410	ENSP00000440763:I362T;ENSP00000360472:I410T	ENSP00000360472:I410T	I	+	2	0	LGI1	95547105	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.168000	0.68352	0.533000	0.62120	ATT		0.423	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		22	60	22	60	---	---	---	---
PRG2	5553	broad.mit.edu	37	11	57154994	57154994	+	Missense_Mutation	SNP	C	C	T	rs146228047		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:57154994C>T	ENST00000311862.5	-	6	696	c.623G>A	c.(622-624)cGt>cAt	p.R208H	PRG2_ENST00000525955.1_Missense_Mutation_p.R208H|PRG2_ENST00000533605.1_Missense_Mutation_p.R197H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	208	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GTGGGCTCGACGCCAGTGGCC	0.587																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(622-624)cGt>cAt		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)							68.0	68.0	68.0					11																	57154994		2201	4296	6497	SO:0001583	missense	5553							g.chr11:57154994C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.623G>A	11.37:g.57154994C>T	ENSP00000312134:p.Arg208His					PRG2_ENST00000533605.1_Missense_Mutation_p.R197H|PRG2_ENST00000525955.1_Missense_Mutation_p.R208H	p.R208H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	696	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.623G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	5.057	0.196159	0.09599	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.18810	2.19;2.19;2.19	4.81	0.656	0.17844	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.681378	0.12165	N	0.493585	T	0.18964	0.0455	L	0.58428	1.81	0.09310	N	0.999999	B;B	0.25955	0.017;0.138	B;B	0.26864	0.015;0.074	T	0.28038	-1.0056	10	0.62326	D	0.03	.	4.1936	0.10433	0.0:0.5228:0.1692:0.308	.	197;208	A6XMW0;P13727	.;PRG2_HUMAN	H	208;197;208	ENSP00000312134:R208H;ENSP00000433231:R197H;ENSP00000433016:R208H	ENSP00000312134:R208H	R	-	2	0	PRG2	56911570	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.638000	0.05452	-0.161000	0.10983	-0.143000	0.13931	CGT		0.587	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		12	36	12	36	---	---	---	---
C11orf24	53838	broad.mit.edu	37	11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:68029279G>A	ENST00000304271.6	-	4	1586	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'Flank	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	395						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTCTACCACGGCCTGGGTGAG	0.587																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1183-1185)gCc>gTc		chromosome 11 open reading frame 24							101.0	92.0	95.0					11																	68029279		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029279G>A	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.1184C>T	11.37:g.68029279G>A	ENSP00000307264:p.Ala395Val					C11orf24_ENST00000533310.1_Intron	p.A395V	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	1586	-			395					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.1184C>T	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486281	0.63962	.	.	ENSG00000171067	ENST00000304271	T	0.31769	1.48	4.89	1.63	0.23807	.	0.571965	0.13605	N	0.375588	T	0.19886	0.0478	L	0.43152	1.355	0.09310	N	0.999994	P	0.39311	0.667	B	0.32928	0.155	T	0.09975	-1.0650	10	0.36615	T	0.2	-3.8734	5.7176	0.17968	0.1947:0.0:0.5903:0.2151	.	395	Q96F05	CK024_HUMAN	V	395	ENSP00000307264:A395V	ENSP00000307264:A395V	A	-	2	0	C11orf24	67785855	0.014000	0.17966	0.001000	0.08648	0.010000	0.07245	1.693000	0.37742	0.475000	0.27415	0.484000	0.47621	GCC		0.587	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		16	42	16	42	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680406	128680406	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:128680406C>T	ENST00000527786.2	+	9	1371	c.882C>T	c.(880-882)agC>agT	p.S294S	FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000344954.6_Silent_p.S261S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	294				S -> N (in Ref. 8; BAG61938). {ECO:0000305}.	blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCTCCGACAGCGCCAACGCCA	0.627			T	EWSR1	Ewing sarcoma																																	ENST00000527786.2				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(880-882)agC>agT		Fli-1 proto-oncogene, ETS transcription factor							17.0	19.0	19.0					11																	128680406		2180	4292	6472	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680406C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.882C>T	11.37:g.128680406C>T						FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000344954.6_Silent_p.S261S	p.S294S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1371	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)						B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.882C>T	CCDS44768.1																																																																																				0.627	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	12	3	12	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132016375	132016375	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:132016375C>T	ENST00000374786.1	+	2	846	c.367C>T	c.(367-369)Cca>Tca	p.P123S	NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S|NTM_ENST00000374784.1_Missense_Mutation_p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	123	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACAACCACCCAAAGACCTC	0.572																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(367-369)Cca>Tca		neurotrimin							115.0	84.0	95.0					11																	132016375		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016375C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.367C>T	11.37:g.132016375C>T	ENSP00000363918:p.Pro123Ser					NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S|NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S	p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			2	846	+			123			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.367C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144548	0.77888	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	M	0.82132	2.575	0.80722	D	1	D;P;D;P;P;D	0.65815	0.995;0.87;0.958;0.942;0.849;0.984	D;D;P;D;P;P	0.67382	0.951;0.934;0.835;0.919;0.55;0.868	T	0.82372	-0.0490	10	0.66056	D	0.02	-13.4348	19.5604	0.95369	0.0:1.0:0.0:0.0	.	123;114;123;123;123;123	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	S	123;123;114;114;123;123;123	ENSP00000363923:P123S;ENSP00000437668:P123S;ENSP00000448104:P114S;ENSP00000416320:P114S;ENSP00000363918:P123S;ENSP00000396722:P123S;ENSP00000363916:P123S	ENSP00000363916:P123S	P	+	1	0	NTM	131521585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.631000	0.89168	0.655000	0.94253	CCA		0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		11	35	11	35	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40697958	40697959	+	Intron	DNP	AA	AA	TT			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:40697958_40697959AA>TT	ENST00000298910.7	+	27	3835				LRRK2_ENST00000343742.2_Missense_Mutation_p.K1267L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTGCCACTTAAAAAATATACT	0.297																																						ENST00000343742.2																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3799-3801)Aaa>Taa|c.(3799-3801)aAa>aTa		leucine-rich repeat kinase 2																																				SO:0001627	intron_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697958A>T|g.chr12:40697959A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	Exception_encountered	12.37:g.40697958_40697959delinsTT						LRRK2_ENST00000298910.7_Intron	p.K1267*|p.K1267I			Q5S007	LRRK2_HUMAN			27	3920|3921	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	0					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000298910.7	37	c.3799A>T|c.3800A>T	CCDS31774.1																																																																																				0.297	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		10	24|22	10	22	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245717	46245717	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:46245717T>G	ENST00000334344.6	+	15	3983	c.3811T>G	c.(3811-3813)Tgc>Ggc	p.C1271G	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1271					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAACCCGTCCTGCCGACGAGG	0.423			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3811-3813)Tgc>Ggc		AT rich interactive domain 2 (ARID, RFX-like)							52.0	51.0	52.0					12																	46245717		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245717T>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3811T>G	12.37:g.46245717T>G	ENSP00000335044:p.Cys1271Gly					ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000479608.1_3'UTR	p.C1271G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3983	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1271					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3811T>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811657	0.32053	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.32988	1.43	6.17	6.17	0.99709	.	0.138871	0.64402	D	0.000002	T	0.35248	0.0925	L	0.27053	0.805	0.80722	D	1	P;D;P	0.56035	0.949;0.974;0.915	P;P;B	0.51415	0.465;0.669;0.217	T	0.11470	-1.0586	10	0.87932	D	0	-3.5913	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1271;881;1271	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	G	1271;388;388;1122;881	ENSP00000335044:C1271G	ENSP00000335044:C1271G	C	+	1	0	ARID2	44531984	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.321000	0.43805	2.371000	0.80710	0.533000	0.62120	TGC		0.423	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		15	21	15	21	---	---	---	---
LETMD1	25875	broad.mit.edu	37	12	51442945	51442945	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:51442945T>C	ENST00000262055.4	+	2	290	c.251T>C	c.(250-252)gTc>gCc	p.V84A	LETMD1_ENST00000418425.2_Missense_Mutation_p.V84A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000548516.1_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	84	LETM1.|Required and sufficient for mitochondrial import.		V -> I (in dbSNP:rs12379). {ECO:0000269|PubMed:12879013, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2}.			integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGCTTCTATGTCCTGTACACA	0.398																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(250-252)gTc>gCc		LETM1 domain containing 1							99.0	90.0	93.0					12																	51442945		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442945T>C	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.251T>C	12.37:g.51442945T>C	ENSP00000262055:p.Val84Ala					LETMD1_ENST00000262055.4_Missense_Mutation_p.V84A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A|LETMD1_ENST00000548516.1_3'UTR	p.V84A	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			2	270	+			84		V -> I (in dbSNP:rs12379).	LETM1.|Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.251T>C	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.903|9.903	1.207373|1.207373	0.22205|0.22205	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000547256|ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	.|T;T;T;T;T;T;T;T;T;T;T	.|0.45668	.|1.08;1.08;1.08;0.93;0.92;0.89;0.95;0.94;0.93;1.08;0.99	4.78|4.78	2.0|2.0	0.26442|0.26442	.|LETM1-like (1);	.|0.949792	.|0.08768	.|N	.|0.896721	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.10809|0.10809	0.05|0.05	0.25777|0.25777	N|N	0.98478|0.98478	.|B;B;B;B;B;B	.|0.09022	.|0.002;0.0;0.002;0.001;0.0;0.002	.|B;B;B;B;B;B	.|0.14023	.|0.006;0.002;0.007;0.004;0.002;0.01	T|T	0.29792|0.29792	-1.0000|-1.0000	5|10	.|0.08179	.|T	.|0.78	0.0|0.0	6.7697|6.7697	0.23587|0.23587	0.0:0.2576:0.0:0.7424|0.0:0.2576:0.0:0.7424	.|.	.|84;84;84;84;84;84	.|B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.|.;.;.;.;.;LTMD1_HUMAN	P|A	29|51;28;84;84;84;84;84;84;91;84;84;84	.|ENSP00000446862:V51A;ENSP00000450163:V28A;ENSP00000262055:V84A;ENSP00000448110:V84A;ENSP00000449896:V84A;ENSP00000450275:V84A;ENSP00000447166:V84A;ENSP00000369466:V84A;ENSP00000450082:V91A;ENSP00000389903:V84A;ENSP00000447419:V84A	.|ENSP00000262055:V84A	S|V	+|+	1|2	0|0	LETMD1|LETMD1	49729212|49729212	0.123000|0.123000	0.22298|0.22298	0.973000|0.973000	0.42090|0.42090	0.984000|0.984000	0.73092|0.73092	2.117000|2.117000	0.41939|0.41939	0.277000|0.277000	0.22141|0.22141	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.398	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		12	48	12	48	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104136330	104136330	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:104136330T>G	ENST00000388887.2	+	56	6233	c.6029T>G	c.(6028-6030)cTg>cGg	p.L2010R		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGATTGTCTGCGTATGTGG	0.557																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6028-6030)cTg>cGg		stabilin 2							192.0	171.0	178.0					12																	104136330		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104136330T>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6029T>G	12.37:g.104136330T>G	ENSP00000373539:p.Leu2010Arg						p.L2010R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			56	6233	+			2010			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6029T>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	0.664	-0.804725	0.02819	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.33438	1.41	4.9	3.74	0.42951	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.356149	0.26331	N	0.024990	T	0.11580	0.0282	N	0.03268	-0.37	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10613	-1.0622	10	0.15066	T	0.55	.	6.7841	0.23664	0.7826:0.0:0.0769:0.1404	.	2010	Q8WWQ8	STAB2_HUMAN	R	2010;697	ENSP00000373539:L2010R	ENSP00000258495:L697R	L	+	2	0	STAB2	102660460	1.000000	0.71417	0.980000	0.43619	0.046000	0.14306	1.602000	0.36783	0.682000	0.31407	-0.624000	0.04008	CTG		0.557	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			42	115	42	115	---	---	---	---
C14orf159	80017	broad.mit.edu	37	14	91639708	91639708	+	Missense_Mutation	SNP	A	A	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr14:91639708A>C	ENST00000523771.1	+	6	1120	c.517A>C	c.(517-519)Aag>Cag	p.K173Q	C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000518868.1_Missense_Mutation_p.K178Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q|C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	173						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCCCAAGGACAAGCTGGAAGG	0.567											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(532-534)Aag>Cag		chromosome 14 open reading frame 159							59.0	53.0	55.0					14																	91639708		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91639708A>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.517A>C	14.37:g.91639708A>C	ENSP00000429655:p.Lys173Gln		OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523771.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q	p.K178Q			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	9	1222	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	173					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.532A>C	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995561	0.35226	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.55	0.675	0.17952	.	0.494236	0.21773	N	0.069328	T	0.29524	0.0736	L	0.27975	0.815	0.36398	D	0.862926	B;B;P;P;B;P	0.36412	0.232;0.295;0.552;0.496;0.194;0.496	B;B;B;B;B;B	0.42462	0.172;0.131;0.388;0.269;0.107;0.269	T	0.16748	-1.0392	10	0.32370	T	0.25	.	6.2781	0.20991	0.5771:0.3384:0.0845:0.0	.	173;49;178;173;178;178	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	Q	173;178;178;178;178;178;173;178;49;173;173;173;178	ENSP00000429453:K173Q;ENSP00000256324:K178Q;ENSP00000430666:K178Q;ENSP00000428296:K178Q;ENSP00000430137:K178Q;ENSP00000428263:K178Q;ENSP00000428974:K173Q;ENSP00000428652:K178Q;ENSP00000435459:K49Q;ENSP00000404343:K173Q;ENSP00000427953:K173Q;ENSP00000429655:K173Q;ENSP00000404196:K178Q	ENSP00000256324:K178Q	K	+	1	0	C14orf159	90709461	0.989000	0.36119	0.203000	0.23512	0.003000	0.03518	0.490000	0.22403	0.018000	0.15052	-0.441000	0.05720	AAG		0.567	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		4	59	4	59	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73728052	73728052	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr17:73728052C>T	ENST00000200181.3	+	11	1562	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	ITGB4_ENST00000339591.3_Silent_p.L459L|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	459	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCTGCGAGCTGGTACAACG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1375-1377)Ctg>Ttg		integrin, beta 4							72.0	60.0	64.0					17																	73728052		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73728052C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1375C>T	17.37:g.73728052C>T						ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000339591.3_Silent_p.L459L	p.L459L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1562	+	all_cancers(13;1.5e-07)		459			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1375C>T	CCDS11727.1																																																																																				0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	42	5	42	---	---	---	---
RANBP3	8498	broad.mit.edu	37	19	5923895	5923895	+	Missense_Mutation	SNP	C	C	G	rs202125680		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:5923895C>G	ENST00000340578.6	-	12	1084	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	343					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTGTTGGCATCTGAACTGACC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18656	0.0		0.001	False		,,,				2504	0.0					ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(1027-1029)Gat>Cat		RAN binding protein 3		C	HIS/ASP,HIS/ASP,HIS/ASP	0,4274		0,0,2137	67.0	72.0	70.0		1012,823,1027	5.7	0.7	19		70	1,8511		0,1,4255	yes	missense,missense,missense	RANBP3	NM_003624.2,NM_007320.2,NM_007322.2	81,81,81	0,1,6392	GG,GC,CC		0.0117,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging	338/563,275/500,343/568	5923895	1,12785	2137	4256	6393	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923895C>G	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1027G>C	19.37:g.5923895C>G	ENSP00000341483:p.Asp343His					RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H	p.D343H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			12	1084	-			343					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.1027G>C	CCDS42478.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.9	4.578487	0.86645	0.0	1.17E-4	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.34472	1.36;1.37;2.11;1.38	5.73	5.73	0.89815	.	0.263772	0.35772	N	0.002989	T	0.54679	0.1873	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D;D;D;D	0.71674	0.996;0.997;0.977;0.96;0.987;0.998;0.997	D;P;P;P;P;D;P	0.64144	0.914;0.838;0.778;0.778;0.889;0.922;0.838	T	0.52837	-0.8522	10	0.59425	D	0.04	-11.028	17.3865	0.87417	0.0:1.0:0.0:0.0	.	215;338;215;270;275;338;343	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	H	343;338;275;274;215	ENSP00000341483:D343H;ENSP00000404837:D338H;ENSP00000034275:D275H;ENSP00000445071:D215H	ENSP00000034275:D275H	D	-	1	0	RANBP3	5874895	1.000000	0.71417	0.701000	0.30321	0.892000	0.51952	6.864000	0.75494	2.709000	0.92574	0.563000	0.77884	GAT		0.557	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		8	69	8	69	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33329897	33329897	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:33329897C>T	ENST00000374796.2	-	12	6733	c.4163G>A	c.(4162-4164)gGg>gAg	p.G1388E	NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1388					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGAAAGCTCCCAGGTACAGG	0.507																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4162-4164)gGg>gAg		nuclear receptor coactivator 6							78.0	82.0	81.0					20																	33329897		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329897C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4163G>A	20.37:g.33329897C>T	ENSP00000363929:p.Gly1388Glu					NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E	p.G1388E			Q14686	NCOA6_HUMAN			12	6733	-			1388					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4163G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509056	0.44660	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27557	1.66;1.66	5.33	5.33	0.75918	.	0.166949	0.41823	D	0.000808	T	0.21590	0.0520	N	0.19112	0.55	0.34062	D	0.65745	P	0.45902	0.868	P	0.44860	0.462	T	0.03887	-1.0995	10	0.02654	T	1	-5.1884	15.8349	0.78791	0.0:0.8549:0.1451:0.0	.	1388	Q14686	NCOA6_HUMAN	E	1388	ENSP00000363929:G1388E;ENSP00000351894:G1388E	ENSP00000351894:G1388E	G	-	2	0	NCOA6	32793558	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.915000	0.56409	2.781000	0.95711	0.591000	0.81541	GGG		0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		14	40	14	40	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40127969	40127969	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:40127969A>G	ENST00000373233.3	-	6	1058	c.881T>C	c.(880-882)aTt>aCt	p.I294T	CHD6_ENST00000373222.3_Missense_Mutation_p.I329T|CHD6_ENST00000309279.7_Missense_Mutation_p.I294T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	294	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCTTCTCAATGATGTTTGC	0.378																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(880-882)aTt>aCt		chromodomain helicase DNA binding protein 6							73.0	60.0	65.0					20																	40127969		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40127969A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.881T>C	20.37:g.40127969A>G	ENSP00000362330:p.Ile294Thr					CHD6_ENST00000309279.7_Missense_Mutation_p.I294T|CHD6_ENST00000373222.3_Missense_Mutation_p.I329T	p.I294T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			6	1058	-		Myeloproliferative disorder(115;0.00425)	294			Chromo 1.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.881T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142306	0.77775	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.74209	-0.82;-0.82;0.44	4.59	4.59	0.56863	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (1);	0.097937	0.45126	D	0.000394	D	0.84853	0.5564	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;0.973	D;D	0.87578	0.998;0.932	D	0.85445	0.1157	10	0.45353	T	0.12	-11.6552	14.4221	0.67190	1.0:0.0:0.0:0.0	.	329;294	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	T	294;294;329	ENSP00000362330:I294T;ENSP00000308684:I294T;ENSP00000362319:I329T	ENSP00000308684:I294T	I	-	2	0	CHD6	39561383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.667000	0.91153	2.052000	0.61016	0.402000	0.26972	ATT		0.378	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			8	11	8	11	---	---	---	---
ATP5J	522	broad.mit.edu	37	21	27101953	27101953	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr21:27101953T>G	ENST00000400093.3	-	2	844	c.153A>C	c.(151-153)aaA>aaC	p.K51N	ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	51					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						GTCGCTTAGATTTGTATTCTC	0.328																																					Colon(101;404 1513 9184 32221 46005)	ENST00000400093.3																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(151-153)aaA>aaC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							44.0	41.0	42.0					21																	27101953		2203	4300	6503	SO:0001583	missense	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27101953T>G	M37104	CCDS13574.1, CCDS46637.1	21q21.1	2012-10-12	2010-06-11		ENSG00000154723	ENSG00000154723		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	847	protein-coding gene	gene with protein product	"""coupling factor 6"""	603152	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6"""	ATP5A, ATP5, ATPM		1830479, 1825642	Standard	NM_001685		Approved	CF6	uc002ylt.3	P18859	OTTHUMG00000078442	ENST00000400093.3:c.153A>C	21.37:g.27101953T>G	ENSP00000382965:p.Lys51Asn					ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N	p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN			2	844	-			51					J3KQ83	Missense_Mutation	SNP	ENST00000400093.3	37	c.153A>C	CCDS13574.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994113	0.54041	.	.	ENSG00000154723	ENST00000400099;ENST00000400094;ENST00000284971;ENST00000457143;ENST00000400090;ENST00000400087;ENST00000400093	.	.	.	4.98	3.81	0.43845	.	0.396133	0.31370	N	0.007762	T	0.30070	0.0753	L	0.31420	0.93	0.31465	N	0.669137	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.22521	-1.0214	9	0.19147	T	0.46	-0.9723	5.9436	0.19207	0.0:0.0865:0.268:0.6455	.	51;51	Q6IB54;P18859	.;ATP5J_HUMAN	N	51;51;51;59;51;51;51	.	ENSP00000284971:K51N	K	-	3	2	ATP5J	26023824	0.975000	0.34042	0.752000	0.31206	0.976000	0.68499	0.824000	0.27379	1.015000	0.39444	0.533000	0.62120	AAA		0.328	ATP5J-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171357.1	NM_001685		11	29	11	29	---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29195090	29195090	+	Silent	SNP	A	A	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:29195090A>C	ENST00000216037.6	-	2	351	c.279T>G	c.(277-279)gcT>gcG	p.A93A	XBP1_ENST00000403532.3_Silent_p.A93A|XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A|CTA-292E10.6_ENST00000418292.1_RNA|CTA-292E10.6_ENST00000451486.1_RNA|CTA-292E10.6_ENST00000458080.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	93	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CACTCATTCGAGCCTTCTTTC	0.403																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(277-279)gcT>gcG		X-box binding protein 1							120.0	107.0	111.0					22																	29195090		2203	4300	6503	SO:0001819	synonymous_variant	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29195090A>C	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.279T>G	22.37:g.29195090A>C						XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A|XBP1_ENST00000403532.3_Silent_p.A93A	p.A93A	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN			2	351	-			93					Q8WYK6|Q969P1|Q96BD7	Silent	SNP	ENST00000216037.6	37	c.279T>G	CCDS13847.1																																																																																				0.403	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		15	49	15	49	---	---	---	---
SLC17A5	26503	broad.mit.edu	37	6	74351528	74351537	+	Frame_Shift_Del	DEL	CATTTTCCCC	CATTTTCCCC	-	rs80338795		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:74351528_74351537delCATTTTCCCC	ENST00000355773.5	-	3	670_679	c.402_411delGGGGAAAATG	c.(400-411)ggggggaaaatgfs	p.GGKM134fs	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	134					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTAGCAGCATTTTCCCCCCTATTTTGC	0.471																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM003476	SLC17A5	M	rs80338795	c.(400-411)ggggggaaaatgfs		solute carrier family 17 (acidic sugar transporter), member 5																																				SO:0001589	frameshift_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74351528_74351537delCATTTTCCCC	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.402_411delGGGGAAAATG	6.37:g.74351528_74351537delCATTTTCCCC	ENSP00000348019:p.Gly134fs					SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs	p.GGKM134fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			3	670_679	-			134					Q5SZ76|Q8NBR5|Q9UGH0	Frame_Shift_Del	DEL	ENST00000355773.5	37	c.402_411delGGGGAAAATG	CCDS4981.1																																																																																				0.471	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			29	121	29	121	---	---	---	---
