#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
CACNA1A	773	broad.mit.edu	37	19	13476148	13476148	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr19:13476148C>T	ENST00000360228.5	-	5	766	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	256			C -> R (in EA2; dbSNP:rs121908231). {ECO:0000269|PubMed:15173248}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTTCAAAGCAGGTGGTATG	0.453																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(766-768)tGc>tAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						99.0	100.0	100.0					19																	13476148		1882	4105	5987	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476148C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.767G>A	19.37:g.13476148C>T	ENSP00000353362:p.Cys256Tyr					CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y	p.C256Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		5	766	-			256		C -> R (in EA2; dbSNP:rs121908231).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.767G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476644	0.63737	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98762	-5.12	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.97617	1.0133	10	0.87932	D	0	.	18.2896	0.90124	0.0:1.0:0.0:0.0	.	256;256	O00555;Q9NS88	CAC1A_HUMAN;.	Y	256	ENSP00000353362:C256Y	ENSP00000317661:C256Y	C	-	2	0	CACNA1A	13337148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.603000	0.88011	0.655000	0.94253	TGC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		19	75	0	0	0	0.010504	0	19	75				
COL3A1	1281	broad.mit.edu	37	2	189866147	189866147	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr2:189866147C>T	ENST00000304636.3	+	33	2478	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	770	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TATTGGTCCTCCTGGCCCAGC	0.373																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2308-2310)Cct>Tct		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						69.0	76.0	74.0					2																	189866147		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189866147C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2308C>T	2.37:g.189866147C>T	ENSP00000304408:p.Pro770Ser					COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S	p.P770S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		33	2478	+			770			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2308C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620605	0.66787	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95885	-3.84;-3.84	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000147	D	0.95095	0.8411	M	0.69248	2.105	0.53688	D	0.999979	P	0.49635	0.926	P	0.46362	0.514	D	0.94990	0.8133	10	0.54805	T	0.06	.	15.0318	0.71713	0.0:0.8582:0.1418:0.0	.	770	P02461	CO3A1_HUMAN	S	770	ENSP00000304408:P770S;ENSP00000315243:P770S	ENSP00000304408:P770S	P	+	1	0	COL3A1	189574392	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.776000	0.85560	2.694000	0.91930	0.557000	0.71058	CCT		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	52	0	0	0	0.021553	0	5	52				
NMRK1	54981	broad.mit.edu	37	9	77692099	77692099	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr9:77692099T>C	ENST00000361092.4	-	4	381	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E|NMRK1_ENST00000376811.1_Missense_Mutation_p.K53E	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	49					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AATCCATTTTTATCTGTCTCT	0.303																																						ENST00000376811.1																			0											c.(157-159)Aaa>Gaa		nicotinamide riboside kinase 1							118.0	126.0	123.0					9																	77692099		2201	4297	6498	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77692099T>C	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.145A>G	9.37:g.77692099T>C	ENSP00000354387:p.Lys49Glu					NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E|NMRK1_ENST00000361092.4_Missense_Mutation_p.K49E	p.K53E			Q9NWW6	NRK1_HUMAN			5	619	-			49					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.157A>G	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	5.210	0.224236	0.09863	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.38887	1.11;1.11;1.11	6.06	-1.48	0.08745	.	0.712921	0.14239	N	0.332240	T	0.09992	0.0245	N	0.00403	-1.54	0.21553	N	0.999642	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.36720	-0.9736	10	0.02654	T	1	-2.4579	11.3098	0.49358	0.0:0.6247:0.0:0.3753	.	49;53;49	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	E	53;53;49;49	ENSP00000366007:K53E;ENSP00000354387:K49E;ENSP00000366004:K49E	ENSP00000354387:K49E	K	-	1	0	C9orf95	76881919	1.000000	0.71417	0.756000	0.31282	0.995000	0.86356	0.943000	0.29030	-0.461000	0.06993	0.533000	0.62120	AAA		0.303	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	112	0	0	0	0.001984	0	6	112				
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.G41R(1)	kidney(1)																	42.0	30.0	34.0					20																	26084295		692	1590	2282			0							g.chr20:26084295C>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084295C>T								NR_003678.1						0	162	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.373	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	41	0	0	0	0.009096	0	3	41				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	15	0	0	0	0.004672	0	3	15				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		3	93	0	0	0	0.009096	0	3	93				
KIF2A	3796	broad.mit.edu	37	5	61643970	61643970	+	Silent	SNP	A	A	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr5:61643970A>T	ENST00000401507.3	+	3	566	c.255A>T	c.(253-255)tcA>tcT	p.S85S	KIF2A_ENST00000381103.2_Silent_p.S65S|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	85	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGCATCCTCAGCCAAAGTAA	0.438																																						ENST00000381103.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(193-195)tcA>tcT		kinesin heavy chain member 2A							93.0	96.0	95.0					5																	61643970		2203	4300	6503	SO:0001819	synonymous_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61643970A>T	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.255A>T	5.37:g.61643970A>T						KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S|KIF2A_ENST00000401507.3_Silent_p.S85S|KIF2A_ENST00000509663.2_Intron	p.S65S	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN		Lung(70;0.14)	4	680	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	85			Globular (Potential).		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Silent	SNP	ENST00000401507.3	37	c.195A>T	CCDS3980.2																																																																																				0.438	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		7	106	0	0	0	0.001984	0	7	106				
TRIM46	80128	broad.mit.edu	37	1	155156425	155156425	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr1:155156425C>T	ENST00000334634.4	+	10	2039	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	TRIM46_ENST00000368382.1_Missense_Mutation_p.T657I|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	680	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGCCCCACAGCCGGCTGC	0.657																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1969-1971)aCa>aTa		tripartite motif containing 46							70.0	70.0	70.0					1																	155156425		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156425C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2039C>T	1.37:g.155156425C>T	ENSP00000334657:p.Thr680Ile					TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.T680I|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I	p.T657I	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		10	2107	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		680			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1970C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380826	0.11466	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.63096	-0.02;-0.02;-0.02	4.19	3.2	0.36748	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.451130	0.21216	N	0.078227	T	0.13756	0.0333	N	0.02539	-0.55	0.09310	N	1	B	0.30511	0.282	B	0.20955	0.032	T	0.11542	-1.0583	10	0.20046	T	0.44	.	10.5003	0.44802	0.0:0.8021:0.1979:0.0	.	680	Q7Z4K8	TRI46_HUMAN	I	638;554;657;680	ENSP00000440254:T554I;ENSP00000357366:T657I;ENSP00000334657:T680I	ENSP00000334657:T680I	T	+	2	0	TRIM46	153423049	0.002000	0.14202	0.008000	0.14137	0.088000	0.18126	-0.270000	0.08584	2.065000	0.61736	0.313000	0.20887	ACA		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		14	41	0	0	0	0.016723	0	14	41				
SH2B3	10019	broad.mit.edu	37	12	111885971	111885971	+	Silent	SNP	G	G	T	rs143956445		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:111885971G>T	ENST00000341259.2	+	8	1950	c.1593G>T	c.(1591-1593)tcG>tcT	p.S531S	SH2B3_ENST00000538307.1_Silent_p.S329S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	531					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGGTGCCTTCGCCCGAAGAAC	0.637																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1591-1593)tcG>tcT		SH2B adaptor protein 3							70.0	78.0	75.0					12																	111885971		2203	4300	6503	SO:0001819	synonymous_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885971G>T	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1593G>T	12.37:g.111885971G>T						SH2B3_ENST00000538307.1_Silent_p.S329S	p.S531S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			8	1950	+			531					B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	c.1593G>T	CCDS9153.1																																																																																				0.637	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	70	1	0	1.23904e-05	0.014758	2.76962e-05	4	70				
FLII	2314	broad.mit.edu	37	17	18149649	18149649	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr17:18149649C>T	ENST00000327031.4	-	24	3404	c.3179G>A	c.(3178-3180)cGc>cAc	p.R1060H	FLII_ENST00000545457.2_Missense_Mutation_p.R1005H|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.R974H|FLII_ENST00000579294.1_Missense_Mutation_p.R1049H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1060					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCCGTTGGTGCGGATCTGGTA	0.642																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3178-3180)cGc>cAc		flightless I homolog (Drosophila)							92.0	93.0	93.0					17																	18149649		2203	4299	6502	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149649C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3179G>A	17.37:g.18149649C>T	ENSP00000324573:p.Arg1060His					FLII_ENST00000545457.2_Missense_Mutation_p.R1005H|FLII_ENST00000379450.4_Missense_Mutation_p.R974H|FLII_ENST00000579294.1_Missense_Mutation_p.R1049H|FLII_ENST00000578558.1_Intron	p.R1060H	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			24	3404	-	all_neural(463;0.228)		1060					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3179G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099809	0.94197	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.24350	1.86;1.86	5.52	5.52	0.82312	.	0.101997	0.64402	D	0.000003	T	0.58623	0.2135	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.987;0.999	T	0.64512	-0.6390	10	0.87932	D	0	-19.407	19.4312	0.94768	0.0:1.0:0.0:0.0	.	974;974;1060;1029	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	H	1060;939;974	ENSP00000324573:R1060H;ENSP00000368763:R974H	ENSP00000324573:R1060H	R	-	2	0	FLII	18090374	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.116000	0.77119	2.601000	0.87937	0.643000	0.83706	CGC		0.642	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		4	66	0	0	0	0.009096	0	4	66				
OR5AK2	390181	broad.mit.edu	37	11	56756448	56756448	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756448G>T	ENST00000326855.2	+	1	102	c.60G>T	c.(58-60)caG>caT	p.Q20H		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTT	0.408																																						ENST00000326855.2																			1	Substitution - Missense(1)	p.Q20H(1)	breast(1)	breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(58-60)caG>caT		olfactory receptor, family 5, subfamily AK, member 2							150.0	143.0	145.0					11																	56756448		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756448G>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.60G>T	11.37:g.56756448G>T	ENSP00000322784:p.Gln20His						p.Q20H	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	102	+			20					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.60G>T	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	G	1.377	-0.584426	0.03827	.	.	ENSG00000181273	ENST00000326855	T	0.01335	5.0	3.66	-3.31	0.04988	.	0.446761	0.16291	U	0.220910	T	0.02083	0.0065	L	0.28776	0.89	0.09310	N	1	D	0.56968	0.978	P	0.60345	0.873	T	0.44590	-0.9318	10	0.25106	T	0.35	-6.3727	6.4602	0.21952	0.366:0.0:0.4927:0.1413	.	20	Q8NH90	O5AK2_HUMAN	H	20	ENSP00000322784:Q20H	ENSP00000322784:Q20H	Q	+	3	2	OR5AK2	56513024	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.551000	0.00433	-0.425000	0.07371	-1.050000	0.02344	CAG		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	77	1	0	3.07112e-06	0.010729	7.78016e-06	12	77				
SLC38A7	55238	broad.mit.edu	37	16	58701385	58701385	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr16:58701385C>A	ENST00000570101.1	-	11	2176	c.1293G>T	c.(1291-1293)tgG>tgT	p.W431C	SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C|SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V|SLC38A7_ENST00000566953.1_5'UTR			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	431					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGACCAGCACCCACCAGCTGT	0.498																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1291-1293)tgG>tgT		solute carrier family 38, member 7							100.0	85.0	90.0					16																	58701385		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58701385C>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1293G>T	16.37:g.58701385C>A	ENSP00000454646:p.Trp431Cys					SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V|SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C|SLC38A7_ENST00000566953.1_5'UTR	p.W431C			Q9NVC3	S38A7_HUMAN			11	2176	-			431					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1293G>T	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047414	0.55110	.	.	ENSG00000103042	ENST00000219320	T	0.02258	4.37	5.98	5.98	0.97165	.	0.315734	0.39020	N	0.001485	T	0.05686	0.0149	N	0.17082	0.46	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.62001	-0.6946	9	.	.	.	-10.2782	19.4443	0.94840	0.0:1.0:0.0:0.0	.	431	Q9NVC3	S38A7_HUMAN	C	431	ENSP00000219320:W431C	.	W	-	3	0	SLC38A7	57258886	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.366000	0.44204	2.847000	0.97988	0.591000	0.81541	TGG		0.498	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		10	39	1	0	2.17888e-05	0.006214	4.59985e-05	10	39				
FAM60A	58516	broad.mit.edu	37	12	31440669	31440669	+	Silent	SNP	A	A	C			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:31440669A>C	ENST00000337682.4	-	5	773	c.405T>G	c.(403-405)ccT>ccG	p.P135P	FAM60A_ENST00000454658.2_Silent_p.P135P|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	135					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TACTGTAACAAGGAGATTGAG	0.378																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(403-405)ccT>ccG		family with sequence similarity 60, member A							78.0	75.0	76.0					12																	31440669		2203	4300	6503	SO:0001819	synonymous_variant	58516							g.chr12:31440669A>C	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.405T>G	12.37:g.31440669A>C						FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000454658.2_Silent_p.P135P	p.P135P	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN			5	773	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		135					D3DUV8|Q9BSZ8	Silent	SNP	ENST00000337682.4	37	c.405T>G	CCDS8723.1																																																																																				0.378	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		6	37	0	0	0	0.001984	0	6	37				
OR5AK2	390181	broad.mit.edu	37	11	56756449	56756449	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756449C>T	ENST00000326855.2	+	1	103	c.61C>T	c.(61-63)Cat>Tat	p.H21Y		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGGTGCCCAGCATGAGTTTTG	0.413																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(61-63)Cat>Tat		olfactory receptor, family 5, subfamily AK, member 2							150.0	143.0	145.0					11																	56756449		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756449C>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.61C>T	11.37:g.56756449C>T	ENSP00000322784:p.His21Tyr						p.H21Y	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	103	+			21					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.61C>T	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.218225	0.01542	.	.	ENSG00000181273	ENST00000326855	T	0.00419	7.48	3.66	-1.24	0.09435	.	1.290410	0.05811	N	0.613975	T	0.00300	0.0009	L	0.35341	1.055	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41106	-0.9527	10	0.72032	D	0.01	-3.428	3.1765	0.06570	0.1611:0.4376:0.2966:0.1047	.	21	Q8NH90	O5AK2_HUMAN	Y	21	ENSP00000322784:H21Y	ENSP00000322784:H21Y	H	+	1	0	OR5AK2	56513025	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.701000	0.05075	-0.014000	0.14175	0.194000	0.17425	CAT		0.413	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	77	0	0	0	0.010729	0	12	77				
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			2	4						2	4	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786033	123786033	+	Intron	DEL	A	A	-	rs201431159		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr6:123786033delA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|TRDN_ENST00000546248.1_Frame_Shift_Del_p.S297fs|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)ctfs		triadin							47.0	48.0	48.0					6																	123786033		1889	4111	6000	SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786033delA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17T>-	6.37:g.123786033delA						RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron	p.S297fs	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022	-			0					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	ENST00000398178.3	37	c.889delT	CCDS55053.1																																																																																				0.388	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	5						3	5	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	5						3	5	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	5	10						5	10	---	---	---	---
RP11-678G14.2	0	broad.mit.edu	37	19	21749277	21749278	+	RNA	DEL	TC	TC	-	rs370470703		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr19:21749277_21749278delTC	ENST00000594564.1	-	0	134																											AGAAATTATTTCTGTTTTCCCC	0.401																																						ENST00000594564.1																			0																																																			0							g.chr19:21749277_21749278delTC																													19.37:g.21749277_21749278delTC														0	134	-									RNA	DEL	ENST00000594564.1	37																																																																																						0.401	RP11-678G14.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000463990.1			2	4						2	4	---	---	---	---
