#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NRXN3	9369	broad.mit.edu	37	14	79746819	79746819	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr14:79746819G>A	ENST00000557594.1	+	1	1138	c.185G>A	c.(184-186)aGc>aAc	p.S62N	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.S62N|NRXN3_ENST00000428277.2_Missense_Mutation_p.S62N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	62					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTCCATGGCAGCAAGCATCAC	0.507																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(184-186)aGc>aAc		neurexin 3							221.0	188.0	199.0					14																	79746819		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746819G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.185G>A	14.37:g.79746819G>A	ENSP00000451672:p.Ser62Asn					NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.S62N|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.S62N	p.S62N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	1064	+		Renal(4;0.00876)	62					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.185G>A		.	.	.	.	.	.	.	.	.	.	G	19.73	3.882610	0.72410	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35605	1.43;1.51;1.3	5.8	5.8	0.92144	.	.	.	.	.	T	0.23572	0.0570	N	0.19112	0.55	0.80722	D	1	P;P;P	0.40476	0.718;0.718;0.596	B;B;B	0.32211	0.142;0.142;0.067	T	0.03566	-1.1024	8	.	.	.	.	18.235	0.89947	0.0:0.0:1.0:0.0	.	62;62;62	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	N	62	ENSP00000451672:S62N;ENSP00000281127:S62N;ENSP00000394426:S62N	.	S	+	2	0	NRXN3	78816572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.287000	0.59001	2.748000	0.94277	0.655000	0.94253	AGC		0.507	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		4	181	0	0	0	1	0	4	181				
ASNS	440	broad.mit.edu	37	7	97488559	97488559	+	Silent	SNP	G	G	A	rs200653570		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr7:97488559G>A	ENST00000394309.3	-	5	1110	c.639C>T	c.(637-639)caC>caT	p.H213H	ASNS_ENST00000394308.3_Silent_p.H213H|ASNS_ENST00000422745.1_Silent_p.H192H|ASNS_ENST00000444334.1_Silent_p.H192H|ASNS_ENST00000437628.1_Silent_p.H130H|ASNS_ENST00000175506.4_Silent_p.H213H|ASNS_ENST00000455086.1_Silent_p.H130H	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	213	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CATAGAGGGCGTGCAGGGGTA	0.433																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(637-639)caC>caT		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						102.0	105.0	104.0					7																	97488559		2203	4300	6503	SO:0001819	synonymous_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488559G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.639C>T	7.37:g.97488559G>A						ASNS_ENST00000422745.1_Silent_p.H192H|ASNS_ENST00000437628.1_Silent_p.H130H|ASNS_ENST00000394309.3_Silent_p.H213H|ASNS_ENST00000444334.1_Silent_p.H192H|ASNS_ENST00000455086.1_Silent_p.H130H|ASNS_ENST00000394308.3_Silent_p.H213H	p.H213H	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			6	1167	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		213			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	c.639C>T	CCDS5652.1																																																																																				0.433	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		3	71	0	0	0	1	0	3	71				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	32	0	0	0	1	0	4	32				
HPS1	3257	broad.mit.edu	37	10	100189379	100189379	+	Silent	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:100189379G>A	ENST00000325103.6	-	10	1121	c.888C>T	c.(886-888)ctC>ctT	p.L296L	HPS1_ENST00000361490.4_Silent_p.L296L|HPS1_ENST00000338546.5_Silent_p.L296L|HPS1_ENST00000467246.1_5'UTR|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	296					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACTCCTCAGGGAGGGAGAAGC	0.597									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(886-888)ctC>ctT		Hermansky-Pudlak syndrome 1							80.0	83.0	82.0					10																	100189379		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189379G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.888C>T	10.37:g.100189379G>A						HPS1_ENST00000338546.5_Silent_p.L296L|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L296L	p.L296L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	10	1121	-		Colorectal(252;0.234)	296					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.888C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971608	0.18736	.	.	ENSG00000107521	ENST00000414009	.	.	.	5.28	1.06	0.20224	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.25225	N	0.989879	.	.	.	.	.	.	T	0.31613	-0.9937	4	.	.	.	.	12.8627	0.57922	0.0819:0.6824:0.2357:0.0	.	.	.	.	S	131	.	.	P	-	1	0	HPS1	100179369	0.080000	0.21391	0.989000	0.46669	0.986000	0.74619	-0.333000	0.07894	0.212000	0.20703	-0.311000	0.09066	CCC		0.597	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		12	45	0	0	0	1	0	12	45				
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	G	C			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr12:120568522G>C	ENST00000300648.6	-	56	7611	c.7599C>G	c.(7597-7599)ggC>ggG	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7597-7599)ggC>ggG		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							57.0	60.0	59.0					12																	120568522		1956	4133	6089	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568522G>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7599C>G	12.37:g.120568522G>C							p.G2533G	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			56	7611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2533					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7599C>G	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			23	95	0	0	0	1	0	23	95				
C10orf90	118611	broad.mit.edu	37	10	128193324	128193324	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:128193324G>A	ENST00000284694.7	-	3	565	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	C10orf90_ENST00000454341.1_Missense_Mutation_p.P149S|C10orf90_ENST00000544758.1_Missense_Mutation_p.P246S|C10orf90_ENST00000392694.1_Missense_Mutation_p.P102S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.P102S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	149	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CGGGCTGGGGGGCCCACGCGT	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(445-447)Ccc>Tcc		chromosome 10 open reading frame 90							24.0	30.0	28.0					10																	128193324		2179	4269	6448	SO:0001583	missense	118611							g.chr10:128193324G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.445C>T	10.37:g.128193324G>A	ENSP00000284694:p.Pro149Ser		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000392694.1_Missense_Mutation_p.P102S|C10orf90_ENST00000356858.3_Missense_Mutation_p.P102S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.P149S|C10orf90_ENST00000544758.1_Missense_Mutation_p.P246S	p.P149S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	565	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	149					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.445C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314522	0.60524	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.33865	1.65;1.63;1.73;1.67;1.39	5.1	3.25	0.37280	.	0.238222	0.30302	N	0.009934	T	0.46405	0.1391	L	0.58101	1.795	0.09310	N	1	P;P;D;P;B	0.64830	0.876;0.947;0.994;0.947;0.421	P;P;P;P;B	0.60886	0.634;0.634;0.88;0.634;0.176	T	0.30268	-0.9984	10	0.66056	D	0.02	-10.2375	5.8324	0.18588	0.1712:0.0:0.6703:0.1585	.	246;246;102;149;149	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	S	102;149;149;246;149;102;102	ENSP00000284694:P149S;ENSP00000398786:P149S;ENSP00000444369:P246S;ENSP00000405995:P149S;ENSP00000376459:P102S	ENSP00000284694:P149S	P	-	1	0	C10orf90	128183314	0.952000	0.32445	0.004000	0.12327	0.214000	0.24535	1.825000	0.39081	0.735000	0.32537	-0.152000	0.13540	CCC		0.697	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		3	70	0	0	0	1	0	3	70				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	38	0	0	0	1	0	4	38				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	48	0	0	0	1	0	4	48				
HPS1	3257	broad.mit.edu	37	10	100189563	100189563	+	Silent	SNP	C	C	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:100189563C>T	ENST00000325103.6	-	9	1085	c.852G>A	c.(850-852)ggG>ggA	p.G284G	HPS1_ENST00000361490.4_Silent_p.G284G|HPS1_ENST00000338546.5_Silent_p.G284G|HPS1_ENST00000467246.1_Intron|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	284					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGCAGAGCTCCCCCCAGTTG	0.692									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(850-852)ggG>ggA		Hermansky-Pudlak syndrome 1							81.0	86.0	84.0					10																	100189563		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189563C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.852G>A	10.37:g.100189563C>T						HPS1_ENST00000338546.5_Silent_p.G284G|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Silent_p.G284G	p.G284G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	9	1085	-		Colorectal(252;0.234)	284					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.852G>A	CCDS7475.1																																																																																				0.692	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		38	192	0	0	0	1	0	38	192				
TRIM65	201292	broad.mit.edu	37	17	73887267	73887267	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr17:73887267G>T	ENST00000269383.3	-	6	1212	c.1147C>A	c.(1147-1149)Cac>Aac	p.H383N		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	383	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H383N(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGTAGTGGTGCCCGGCCTGG	0.672																																						ENST00000269383.3																			2	Substitution - Missense(2)	p.H383N(2)	urinary_tract(1)|lung(1)	endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1147-1149)Cac>Aac		tripartite motif containing 65							32.0	35.0	34.0					17																	73887267		2202	4294	6496	SO:0001583	missense	201292					intracellular	zinc ion binding	g.chr17:73887267G>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1147C>A	17.37:g.73887267G>T	ENSP00000269383:p.His383Asn						p.H383N	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1212	-			383			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	c.1147C>A	CCDS11732.1	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324284	0.10900	.	.	ENSG00000141569	ENST00000269383	T	0.68331	-0.32	5.31	3.17	0.36434	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.735880	0.02966	N	0.143853	T	0.61590	0.2359	L	0.38175	1.15	0.09310	N	1	B	0.33266	0.404	B	0.36608	0.229	T	0.55192	-0.8179	10	0.59425	D	0.04	.	7.6877	0.28550	0.1431:0.0:0.6372:0.2197	.	383	Q6PJ69	TRI65_HUMAN	N	383	ENSP00000269383:H383N	ENSP00000269383:H383N	H	-	1	0	TRIM65	71398862	0.561000	0.26578	0.076000	0.20297	0.080000	0.17528	3.778000	0.55371	2.508000	0.84585	0.643000	0.83706	CAC		0.672	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		6	75	1	0	0.0293803	1	0.0293803	6	75				
SLC6A16	28968	broad.mit.edu	37	19	49797224	49797224	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:49797224G>A	ENST00000335875.4	-	9	1719	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC6A16_ENST00000454748.3_Missense_Mutation_p.P493L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	493					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GAAGACAGACGGAGGAAGGAA	0.493																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1477-1479)cCg>cTg		solute carrier family 6, member 16							143.0	148.0	146.0					19																	49797224		2016	4184	6200	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797224G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1478C>T	19.37:g.49797224G>A	ENSP00000338627:p.Pro493Leu					SLC6A16_ENST00000335875.4_Missense_Mutation_p.P493L	p.P493L			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1679	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	493					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1478C>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867157	0.17250	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.71934	-0.61;-0.61	4.29	-0.769	0.11009	.	0.574709	0.17786	N	0.162051	T	0.31979	0.0814	N	0.00566	-1.37	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37641	-0.9697	10	0.34782	T	0.22	.	7.7251	0.28755	0.4022:0.3395:0.2582:0.0	.	493;493	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	L	493	ENSP00000338627:P493L;ENSP00000404022:P493L	ENSP00000338627:P493L	P	-	2	0	SLC6A16	54489036	0.105000	0.21958	0.000000	0.03702	0.000000	0.00434	1.625000	0.37029	0.017000	0.15025	-1.355000	0.01225	CCG		0.493	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		3	138	0	0	0	1	0	3	138				
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(82-84)tTa>tAa		cell division cycle 7							89.0	96.0	94.0					1																	91967356		2203	4300	6503	SO:0001587	stop_gained	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967356T>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.83T>A	1.37:g.91967356T>A	ENSP00000393139:p.Leu28*					CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*	p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	342	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	28					D3DT31|O00558|Q5T5U5	Nonsense_Mutation	SNP	ENST00000428239.1	37	c.83T>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919905	0.73098	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	.	.	.	5.22	2.9	0.33743	.	1.340040	0.04577	N	0.394259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7639	5.0268	0.14389	0.0:0.1687:0.1674:0.6639	.	.	.	.	X	28	.	ENSP00000234626:L28X	L	+	2	0	CDC7	91739944	0.004000	0.15560	0.151000	0.22473	0.174000	0.22865	0.295000	0.19065	0.391000	0.25143	-0.346000	0.07831	TTA		0.403	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		3	77	0	0	0	1	0	3	77				
SLC45A4	57210	broad.mit.edu	37	8	142231689	142231689	+	Silent	SNP	G	G	A	rs202071438		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:142231689G>A	ENST00000024061.3	-	2	571	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SLC45A4_ENST00000517878.1_Silent_p.N139N|SLC45A4_ENST00000519067.1_Silent_p.N88N|SLC45A4_ENST00000433583.2_Silent_p.N81N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGCAGAGCCGTTAAGGAAAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19310	0.0		0.001	False		,,,				2504	0.0					ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(262-264)aaC>aaT		solute carrier family 45, member 4							62.0	69.0	67.0					8																	142231689		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231689G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.264C>T	8.37:g.142231689G>A						SLC45A4_ENST00000517878.1_Silent_p.N139N|SLC45A4_ENST00000024061.3_Silent_p.N88N|SLC45A4_ENST00000433583.2_Silent_p.N81N	p.N88N			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	567	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		139					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.264C>T	CCDS34948.1																																																																																				0.612	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		3	44	0	0	0	1	0	3	44				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	156	0	0	0	1	0	3	156				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	49	0	0	0	1	0	3	49				
HR	55806	broad.mit.edu	37	8	21984718	21984718	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:21984718T>C	ENST00000381418.4	-	3	2717	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	HR_ENST00000312841.8_Missense_Mutation_p.R413G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	413					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGCCTGCCCTTTTGAGGGCC	0.662																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1237-1239)Agg>Ggg		hair growth associated							50.0	61.0	57.0					8																	21984718		2202	4297	6499	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21984718T>C	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1237A>G	8.37:g.21984718T>C	ENSP00000370826:p.Arg413Gly					HR_ENST00000312841.8_Missense_Mutation_p.R413G	p.R413G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2717	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	413					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1237A>G	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594958	0.86953	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.77489	-1.08;-1.1	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000004	T	0.82079	0.4959	L	0.36672	1.1	0.36583	D	0.873645	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.84946	0.0868	10	0.45353	T	0.12	-30.7293	12.6189	0.56592	0.0:0.0:0.0:1.0	.	413;413	O43593-2;O43593	.;HAIR_HUMAN	G	413	ENSP00000370826:R413G;ENSP00000326765:R413G	ENSP00000326765:R413G	R	-	1	2	HR	22040663	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.474000	0.35398	2.234000	0.73211	0.460000	0.39030	AGG		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			3	101	0	0	0	1	0	3	101				
DNAAF3	352909	broad.mit.edu	37	19	55677164	55677164	+	Intron	SNP	T	T	C			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:55677164T>C	ENST00000524407.2	-	3	262				DNAAF3_ENST00000527223.2_Intron|DNAAF3_ENST00000391720.4_Intron|DNAAF3_ENST00000455045.1_Missense_Mutation_p.I18V|snoU13_ENST00000459370.1_RNA|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3						axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											ggttttagaatttcaatccct	0.567																																						ENST00000455045.1																			0											c.(52-54)Att>Gtt		dynein, axonemal, assembly factor 3																																				SO:0001627	intron_variant	352909							g.chr19:55677164T>C	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.228+61A>G	19.37:g.55677164T>C						DNAAF3_ENST00000527223.2_Intron|DNAAF3_ENST00000524407.2_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Intron	p.I18V			Q8N9W5	CS051_HUMAN			1	51	-			0					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.52A>G	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	T	0.392	-0.923197	0.02377	.	.	ENSG00000167646	ENST00000455045	T	0.16897	2.31	2.4	-2.82	0.05787	.	.	.	.	.	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41734	-0.9492	8	0.13853	T	0.58	.	2.9328	0.05804	0.0:0.3302:0.238:0.4318	.	18	E3W9A1	.	V	18	ENSP00000394343:I18V	ENSP00000394343:I18V	I	-	1	0	C19orf51	60368976	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.547000	0.06055	-0.366000	0.08064	0.402000	0.26972	ATT		0.567	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		2	6	0	0	0	1	0	2	6				
NLRC5	84166	broad.mit.edu	37	16	57115523	57115523	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:57115523G>A	ENST00000262510.6	+	48	5714		c.e48+1		NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000436936.1_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAGTCATCCGGTAACAGAGGC	0.627																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.e48+1		NLR family, CARD domain containing 5							82.0	86.0	84.0					16																	57115523		2198	4300	6498	SO:0001630	splice_region_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57115523G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5489+1G>A	16.37:g.57115523G>A						NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site				Q86WI3	NLRC5_HUMAN			48	5778	+		all_neural(199;0.225)						B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	SNP	ENST00000262510.6	37		CCDS10773.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.300509	0.60195	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.921	0.58232	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRC5	55673024	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.300000	0.59079	2.171000	0.68590	0.561000	0.74099	.		0.627	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Intron	4	132	0	0	0	1	0	4	132				
STK32B	55351	broad.mit.edu	37	4	5500727	5500727	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr4:5500727G>A	ENST00000282908.5	+	12	1584	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.G311R|STK32B_ENST00000510398.1_Missense_Mutation_p.G341R	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGCCGAGGGGGAGGCCAGGC	0.627																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1162-1164)Gga>Aga		serine/threonine kinase 32B							148.0	114.0	125.0					4																	5500727		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5500727G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1162G>A	4.37:g.5500727G>A	ENSP00000282908:p.Gly388Arg					STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.G341R|STK32B_ENST00000512636.1_Missense_Mutation_p.G311R	p.G388R	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			12	1584	+			388						Missense_Mutation	SNP	ENST00000282908.5	37	c.1162G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	4.644	0.119802	0.08881	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.67698	-0.21;0.12;-0.28	4.94	4.04	0.47022	.	0.457681	0.15429	U	0.262810	T	0.48572	0.1507	N	0.25647	0.755	0.09310	N	1	P	0.35208	0.49	B	0.32624	0.149	T	0.28106	-1.0054	10	0.15952	T	0.53	.	10.4152	0.44318	0.0:0.1984:0.8016:0.0	.	388	Q9NY57	ST32B_HUMAN	R	388;311;341	ENSP00000282908:G388R;ENSP00000423209:G311R;ENSP00000420984:G341R	ENSP00000282908:G388R	G	+	1	0	STK32B	5551628	0.013000	0.17824	0.127000	0.21898	0.023000	0.10783	1.222000	0.32515	2.302000	0.77476	0.561000	0.74099	GGA		0.627	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	55	0	0	0	1	0	3	55				
ASH1L	55870	broad.mit.edu	37	1	155317613	155317613	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:155317613G>A	ENST00000368346.3	-	20	8291	c.7652C>T	c.(7651-7653)tCa>tTa	p.S2551L	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.S2546L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2551					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATCTGGGCTGATGCCTCATG	0.483																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7651-7653)tCa>tTa		ash1 (absent, small, or homeotic)-like (Drosophila)							197.0	160.0	173.0					1																	155317613		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155317613G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7652C>T	1.37:g.155317613G>A	ENSP00000357330:p.Ser2551Leu					ASH1L_ENST00000392403.3_Missense_Mutation_p.S2546L	p.S2551L			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8291	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2551					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7652C>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.451597	0.84209	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.16457	2.34;2.34	5.4	5.4	0.78164	Bromodomain (3);	0.058282	0.64402	D	0.000002	T	0.06005	0.0156	N	0.08118	0	0.80722	D	1	P;D	0.53885	0.937;0.963	B;B	0.43445	0.24;0.42	T	0.38908	-0.9639	10	0.25106	T	0.35	.	18.9481	0.92630	0.0:0.0:1.0:0.0	.	2551;2546	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	2551;2546	ENSP00000357330:S2551L;ENSP00000376204:S2546L	ENSP00000357330:S2551L	S	-	2	0	ASH1L	153584237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.958000	0.93099	2.809000	0.96659	0.655000	0.94253	TCA		0.483	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		3	150	0	0	0	1	0	3	150				
CX3CL1	6376	broad.mit.edu	37	16	57416149	57416149	+	Silent	SNP	C	C	T	rs373115385		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:57416149C>T	ENST00000006053.6	+	3	510	c.399C>T	c.(397-399)ggC>ggT	p.G133G	CX3CL1_ENST00000563383.1_Silent_p.G139G|CX3CL1_ENST00000565912.1_Silent_p.G95G|CX3CL1_ENST00000564948.1_3'UTR	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	133	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGCCACAGGCGAAAGCAGTA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16086	0.0		0.0	False		,,,				2504	0.001					ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(283-285)ggC>ggT		chemokine (C-X3-C motif) ligand 1		C		0,4356		0,0,2178	28.0	32.0	30.0		399	-4.3	0.0	16		30	1,8545		0,1,4272	no	coding-synonymous	CX3CL1	NM_002996.3		0,1,6450	TT,TC,CC		0.0117,0.0,0.0078		133/398	57416149	1,12901	2178	4273	6451	SO:0001819	synonymous_variant	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416149C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.399C>T	16.37:g.57416149C>T						CX3CL1_ENST00000006053.6_Silent_p.G133G|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Silent_p.G139G	p.G95G			P78423	X3CL1_HUMAN			2	2991	+			133			Chemokine.		O00672	Silent	SNP	ENST00000006053.6	37	c.285C>T	CCDS10779.1																																																																																				0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		14	37	0	0	0	1	0	14	37				
CSGALNACT2	55454	broad.mit.edu	37	10	43654238	43654238	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:43654238G>A	ENST00000374466.3	+	3	1072	c.737G>A	c.(736-738)aGa>aAa	p.R246K	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R246K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	246					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGGAATATAGACATGTGACC	0.393																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(736-738)aGa>aAa		chondroitin sulfate N-acetylgalactosaminyltransferase 2							105.0	101.0	102.0					10																	43654238		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654238G>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.737G>A	10.37:g.43654238G>A	ENSP00000363590:p.Arg246Lys					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R246K	p.R246K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			3	1072	+			246					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.737G>A	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216650	0.58452	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.18338	2.22;2.22	5.57	5.57	0.84162	.	0.043429	0.85682	D	0.000000	T	0.19366	0.0465	L	0.48260	1.515	0.51012	D	0.999903	P;P	0.38280	0.625;0.571	B;B	0.43301	0.415;0.359	T	0.02713	-1.1120	10	0.15952	T	0.53	-17.2526	12.8276	0.57728	0.0746:0.0:0.9254:0.0	.	246;246	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	K	246	ENSP00000363590:R246K;ENSP00000363588:R246K	ENSP00000363588:R246K	R	+	2	0	CSGALNACT2	42974244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.421000	0.73353	2.622000	0.88805	0.591000	0.81541	AGA		0.393	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		19	75	0	0	0	1	0	19	75				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	261	0	0	0	1	0	6	261				
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	lincRNA	SNP	T	T	C	rs6583273	byFrequency	TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837									long intergenic non-protein coding RNA 969																		TTGATGAGTATGATCACTCCA	0.468																																						ENST00000445430.1																			0																																																			0							g.chr3:195410640T>C	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410640T>C														0	1837	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.468	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			2	13	0	0	0	1	0	2	13				
SIPA1L1	26037	broad.mit.edu	37	14	72055315	72055315	+	Silent	SNP	G	G	A	rs372866055		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr14:72055315G>A	ENST00000555818.1	+	2	1074	c.726G>A	c.(724-726)aaG>aaA	p.K242K	SIPA1L1_ENST00000358550.2_Silent_p.K242K|SIPA1L1_ENST00000381232.3_Silent_p.K242K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	242					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAACCAAGCTCAGTGACT	0.423																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(724-726)aaG>aaA		signal-induced proliferation-associated 1 like 1		G		0,4406		0,0,2203	93.0	83.0	87.0		726	4.0	1.0	14		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIPA1L1	NM_015556.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		242/1805	72055315	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055315G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.726G>A	14.37:g.72055315G>A						SIPA1L1_ENST00000381232.3_Silent_p.K242K|SIPA1L1_ENST00000358550.2_Silent_p.K242K	p.K242K	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1074	+			242					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.726G>A	CCDS9807.1																																																																																				0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		6	60	0	0	0	1	0	6	60				
RYR1	6261	broad.mit.edu	37	19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:38976750G>A	ENST00000359596.3	+	34	5455	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_ENST00000355481.4_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1819	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGGAGGCGGTGCGCGACGG	0.706																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5455-5457)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						57.0	55.0	56.0					19																	38976750		2201	4293	6494	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976750G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5455G>A	19.37:g.38976750G>A	ENSP00000352608:p.Val1819Met					RYR1_ENST00000359596.3_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M	p.V1819M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5586	+	all_cancers(60;7.91e-06)		1819			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5455G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362717	0.61403	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75050	-0.9;-0.9;-0.9	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	D	0.84933	0.5582	M	0.73962	2.25	0.48830	D	0.999717	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.86575	0.1850	10	0.52906	T	0.07	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1819;1819	P21817-2;P21817	.;RYR1_HUMAN	M	1819	ENSP00000352608:V1819M;ENSP00000347667:V1819M;ENSP00000354254:V1819M	ENSP00000347667:V1819M	V	+	1	0	RYR1	43668590	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTG		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	116	0	0	0	1	0	3	116				
PRKAA1	5562	broad.mit.edu	37	5	40767657	40767657	+	Silent	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr5:40767657G>A	ENST00000397128.2	-	6	740	c.732C>T	c.(730-732)acC>acT	p.T244T	PRKAA1_ENST00000354209.3_Silent_p.T259T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AATATTGAGGGGTATAGAAGA	0.388																																						ENST00000397128.2																			0				breast(1)	1						c.(730-732)acC>acT		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						114.0	106.0	109.0					5																	40767657		1839	4099	5938	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767657G>A		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.732C>T	5.37:g.40767657G>A						PRKAA1_ENST00000354209.3_Silent_p.T259T	p.T244T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			6	740	-			244			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.732C>T	CCDS3932.2																																																																																				0.388	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		4	82	0	0	0	1	0	4	82				
HHEX	3087	broad.mit.edu	37	10	94452181	94452181	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:94452181G>T	ENST00000282728.5	+	2	2217	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	140					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AAGGAAAGGCGGCCAGGTGAG	0.587																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(418-420)Ggc>Tgc		hematopoietically expressed homeobox							51.0	58.0	56.0					10																	94452181		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452181G>T	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.418G>T	10.37:g.94452181G>T	ENSP00000282728:p.Gly140Cys					HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	p.G140C	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			2	2217	+			140					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.418G>T	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	G	36	5.816340	0.96982	.	.	ENSG00000152804	ENST00000282728	D	0.95724	-3.79	5.58	5.58	0.84498	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.051666	0.85682	D	0.000000	D	0.97133	0.9063	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97462	1.0035	10	0.66056	D	0.02	-6.0948	19.563	0.95380	0.0:0.0:1.0:0.0	.	140	Q03014	HHEX_HUMAN	C	140	ENSP00000282728:G140C	ENSP00000282728:G140C	G	+	1	0	HHEX	94442161	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.129000	0.94430	2.630000	0.89119	0.561000	0.74099	GGC		0.587	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			20	59	1	0	1.96895e-08	1	2.13771e-08	20	59				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	31	0	0	0	1	0	4	31				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	44	0	0	0	1	0	3	44				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			4	6						4	6	---	---	---	---
ANKRD20A8P	729171	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTCACCTAATGTATAAGATGGA	0.327																																						ENST00000432432.2																			0																																																			0							g.chr2:95513688_95513689insTA			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95513691_95513692dupTA								NR_040113.1						0	850	-								A6NC18	RNA	INS	ENST00000432432.2	37																																																																																						0.327	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			7	101						7	101	---	---	---	---
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000514724.2_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1645-1650)gcaaaafs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162917425_162917426insA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs					HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs	p.AK549fs			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	17	2144_2145	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	663					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.1647_1648insA	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		9	65						9	65	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	845007	845008	+	RNA	INS	-	-	G			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:845007_845008insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA			P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		ggtggctggcagggcagggtgg	0.698																																						ENST00000524139.1																			0																																																			0							g.chr8:845007_845008insG	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.845010_845010dupG						ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA								0	151	+									RNA	INS	ENST00000524139.1	37																																																																																						0.698	ERICH1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374625.1			2	4						2	4	---	---	---	---
TRDC	28526	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939	byFrequency	TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr14:22933391delC	ENST00000390477.2	+	0	465				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											TTAGAAATGGCTAAGAAACCA	0.408													-|C|-|insertion	491	0.0980431	0.1067	0.1167	5008	,	,		20151	0.005		0.1541	False		,,,				2504	0.1115					ENST00000514473.2																			0																																																			0							g.chr14:22933391delC	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933391delC						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	DEL	ENST00000390477.2	37																																																																																						0.408	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		4	3						4	3	---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)gagdel	p.E409del	C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611																																						ENST00000299320.5																			1	Deletion - In frame(1)	p.E403delE(1)	breast(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(1207-1209)del		chromosome 16 open reading frame 71				1,296,3965		0,0,1,33,230,1867						-6.0	0.9			21	4,602,7644		0,0,4,58,486,3577	no	codingComplex	C16orf71	NM_139170.2		0,0,5,91,716,5444	A1A1,A1A2,A1R,A2A2,A2R,RR		7.3455,6.9686,7.2171				5,898,11609				SO:0001651	inframe_deletion	146562							g.chr16:4796953_4796955delGAG	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1207_1209delGAG	16.37:g.4796962_4796964delGAG	ENSP00000299320:p.Glu409del					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	p.E409del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			8	1685_1687	+			409					Q8NCV0	In_Frame_Del	DEL	ENST00000299320.5	37	c.1207_1209delGAG	CCDS10521.1																																																																																				0.611	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		3	6						3	6	---	---	---	---
CTD-3037G24.3	0	broad.mit.edu	37	16	12681775	12681775	+	RNA	DEL	T	T	-			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:12681775delT	ENST00000564505.1	-	0	307																											CCCTCCTGCCTTTTTTCTGGG	0.463																																						ENST00000564505.1																			0																																																			0							g.chr16:12681775delT																													16.37:g.12681775delT														0	307	-									RNA	DEL	ENST00000564505.1	37																																																																																						0.463	CTD-3037G24.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000435699.1			2	4						2	4	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			2	4						2	4	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		9	52						9	52	---	---	---	---
