#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_ACHILLES_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
HMCN1	83872	broad.mit.edu	37	1	185902810	185902810	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr1:185902810G>A	ENST00000271588.4	+	11	1911	c.1682G>A	c.(1681-1683)aGa>aAa	p.R561K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R561K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	561	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R561K(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGATGTCAGACTGGCAGAG	0.443																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(1681-1683)AGA>AAA		hemicentin 1 precursor							122.0	115.0	118.0					1																	185902810		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185902810G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1682G>A	1.37:g.185902810G>A	ENSP00000271588:p.Arg561Lys						p.R561K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			11	1911	+			561			Ig-like C2-type 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1682G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	4.825	0.153328	0.09185	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.18;-0.18	5.67	2.38	0.29361	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.255290	0.41938	N	0.000793	T	0.41650	0.1168	L	0.31207	0.915	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22417	-1.0217	10	0.05833	T	0.94	.	9.6779	0.40052	0.3249:0.0:0.6751:0.0	.	561	Q96RW7	HMCN1_HUMAN	K	561	ENSP00000271588:R561K;ENSP00000356462:R561K	ENSP00000271588:R561K	R	+	2	0	HMCN1	184169433	0.035000	0.19736	0.025000	0.17156	0.962000	0.63368	2.163000	0.42377	0.721000	0.32231	0.655000	0.94253	AGA		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	63	0	0	0	0.004672	0	3	63				
TPR	7175	broad.mit.edu	37	1	186302290	186302290	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr1:186302290C>G	ENST00000367478.4	-	37	5715	c.5419G>C	c.(5419-5421)Gag>Cag	p.E1807Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1807					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E1807Q(1)|p.E1808Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GAAGGCCGCTCAACTGGTGAA	0.398			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(5419-5421)GAG>CAG		nuclear pore complex-associated protein TPR							82.0	75.0	78.0					1																	186302290		1875	4108	5983	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186302290C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5419G>C	1.37:g.186302290C>G	ENSP00000356448:p.Glu1807Gln						p.E1807Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	37	5716	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1807					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5419G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826766	0.90955	.	.	ENSG00000047410	ENST00000367478	T	0.23348	1.91	5.09	5.09	0.68999	.	0.049367	0.85682	D	0.000000	T	0.39682	0.1087	L	0.48642	1.525	0.58432	D	0.999999	D	0.63880	0.993	P	0.55508	0.777	T	0.11131	-1.0600	10	0.46703	T	0.11	.	18.5873	0.91194	0.0:1.0:0.0:0.0	.	1807	P12270	TPR_HUMAN	Q	1807	ENSP00000356448:E1807Q	ENSP00000356448:E1807Q	E	-	1	0	TPR	184568913	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.130000	0.77235	2.403000	0.81681	0.644000	0.83932	GAG		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		4	53	0	0	0	0.009096	0	4	53				
MCU	90550	broad.mit.edu	37	10	74618992	74618992	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr10:74618992G>A	ENST00000373053.3	+	3	299	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	MCU_ENST00000536019.1_Missense_Mutation_p.R44Q|MCU_ENST00000357157.6_Missense_Mutation_p.R93Q	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	93					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.R93Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CTACCATCCCGGCGTGAACGC	0.423																																							uc001jtc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(277-279)CGG>CAG		coiled-coil domain containing 109A							216.0	198.0	204.0					10																	74618992		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74618992G>A	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.278G>A	10.37:g.74618992G>A	ENSP00000362144:p.Arg93Gln					CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Missense_Mutation_p.R93Q|CCDC109A_uc001jtd.2_Missense_Mutation_p.R44Q	p.R93Q	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			3	299	+	Prostate(51;0.0198)		93			Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.278G>A	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880935	0.97062	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.28255	1.64;1.62;1.68	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.985;0.967	T	0.67772	-0.5584	10	0.87932	D	0	-6.258	19.7303	0.96180	0.0:0.0:1.0:0.0	.	93;44;93	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	Q	93;93;44	ENSP00000362144:R93Q;ENSP00000349680:R93Q;ENSP00000440913:R44Q	ENSP00000349680:R93Q	R	+	2	0	MCU	74288998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.663000	0.90544	0.591000	0.81541	CGG		0.423	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		11	103	0	0	0	0.080935	0	11	103				
FNBP4	23360	broad.mit.edu	37	11	47772543	47772543	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr11:47772543T>C	ENST00000263773.5	-	6	843	c.831A>G	c.(829-831)atA>atG	p.I277M	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	277						nucleus (GO:0005634)		p.I277M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTTAGAATATATGTCTGTAT	0.343																																							uc009ylv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(829-831)ATA>ATG		formin binding protein 4							117.0	101.0	106.0					11																	47772543		1829	4087	5916	SO:0001583	missense	23360							g.chr11:47772543T>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.831A>G	11.37:g.47772543T>C	ENSP00000263773:p.Ile277Met					FNBP4_uc001ngj.2_Missense_Mutation_p.I184M|FNBP4_uc001ngl.2_RNA	p.I277M	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			6	984	-			277					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.831A>G	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	T	6.703	0.498403	0.12762	.	.	ENSG00000109920	ENST00000263773	T	0.29397	1.57	5.69	-8.79	0.00820	.	2.088760	0.01380	N	0.012903	T	0.11410	0.0278	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13953	-1.0490	10	0.23302	T	0.38	1.1158	5.471	0.16670	0.0792:0.3971:0.3154:0.2083	.	277	Q8N3X1	FNBP4_HUMAN	M	277	ENSP00000263773:I277M	ENSP00000263773:I277M	I	-	3	3	FNBP4	47729119	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-2.114000	0.01329	-1.179000	0.02737	0.528000	0.53228	ATA		0.343	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			6	70	0	0	0	0.021553	0	6	70				
TMEM117	84216	broad.mit.edu	37	12	44238567	44238567	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr12:44238567G>A	ENST00000266534.3	+	2	240	c.113G>A	c.(112-114)aGc>aAc	p.S38N	TMEM117_ENST00000536799.1_5'Flank|TMEM117_ENST00000551577.1_Missense_Mutation_p.S38N	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	38						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S38N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GTTTCTCATAGCCAAACAGAA	0.393																																							uc001rod.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(112-114)AGC>AAC		transmembrane protein 117							174.0	171.0	172.0					12																	44238567		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44238567G>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.113G>A	12.37:g.44238567G>A	ENSP00000266534:p.Ser38Asn					TMEM117_uc001roe.2_5'UTR|TMEM117_uc009zkc.2_Missense_Mutation_p.S38N	p.S38N	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	2	179	+	Lung SC(27;0.192)		38						Missense_Mutation	SNP	ENST00000266534.3	37	c.113G>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180884	0.94846	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.52754	0.65;0.65	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70487	0.969;0.969	T	0.67597	-0.5630	10	0.72032	D	0.01	-16.9059	19.9019	0.96988	0.0:0.0:1.0:0.0	.	38;38	F8VS00;Q9H0C3	.;TM117_HUMAN	N	38	ENSP00000448595:S38N;ENSP00000266534:S38N	ENSP00000266534:S38N	S	+	2	0	TMEM117	42524834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.755000	0.98912	2.781000	0.95711	0.650000	0.86243	AGC		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		13	145	0	0	0	0.105934	0	13	145				
KNTC1	9735	broad.mit.edu	37	12	123109155	123109155	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr12:123109155G>A	ENST00000333479.7	+	63	6703	c.6526G>A	c.(6526-6528)Gct>Act	p.A2176T	HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_Missense_Mutation_p.A97T|KNTC1_ENST00000534995.1_Missense_Mutation_p.A97T|KNTC1_ENST00000450485.2_Missense_Mutation_p.A1101T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2176					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.A2176T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTAGATGAAGCTTCAGTCTT	0.448																																							uc001ucv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(6526-6528)GCT>ACT		Rough Deal homolog, centromere/kinetochore							48.0	49.0	49.0					12																	123109155		1889	4104	5993	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123109155G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6526G>A	12.37:g.123109155G>A	ENSP00000328236:p.Ala2176Thr					KNTC1_uc010taf.1_Missense_Mutation_p.A1101T|GPR81_uc001ucw.1_Intron	p.A2176T	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	63	6689	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		2176					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.6526G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767771	0.90020	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000436959;ENST00000534995	T;T	0.34072	1.38;1.97	5.25	4.34	0.51931	.	0.114079	0.64402	D	0.000014	T	0.46521	0.1397	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.74023	0.982;0.896	T	0.41378	-0.9512	10	0.62326	D	0.03	-16.293	12.3391	0.55083	0.083:0.0:0.917:0.0	.	1101;2176	E7ES84;P50748	.;KNTC1_HUMAN	T	1101;2176;97;97	ENSP00000397992:A1101T;ENSP00000328236:A2176T	ENSP00000328236:A2176T	A	+	1	0	KNTC1	121675108	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	3.896000	0.56266	2.624000	0.88883	0.561000	0.74099	GCT		0.448	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	31	0	0	0	0.021553	0	5	31				
FKBP3	2287	broad.mit.edu	37	14	45587247	45587247	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr14:45587247C>T	ENST00000216330.3	-	7	1014	c.604G>A	c.(604-606)Gga>Aga	p.G202R	FKBP3_ENST00000396062.3_Missense_Mutation_p.G202R			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	202	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.G202R(1)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TCAGGCTGTCCTTTCTTTCCG	0.398																																							uc010tqf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(604-606)GGA>AGA		FK506 binding protein 3, 25kDa							160.0	166.0	164.0					14																	45587247		2203	4300	6503	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45587247C>T	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.604G>A	14.37:g.45587247C>T	ENSP00000216330:p.Gly202Arg						p.G202R	NM_002013	NP_002004	Q00688	FKBP3_HUMAN			6	677	-			202			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.604G>A	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196207	0.94960	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.62364	0.03;0.03	5.87	5.87	0.94306	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78542	-0.2164	10	0.87932	D	0	-14.4078	19.8196	0.96589	0.0:1.0:0.0:0.0	.	202	Q00688	FKBP3_HUMAN	R	202	ENSP00000216330:G202R;ENSP00000379374:G202R	ENSP00000216330:G202R	G	-	1	0	FKBP3	44656997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.769000	0.85360	2.770000	0.95276	0.650000	0.86243	GGA		0.398	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		11	132	0	0	0	0.069234	0	11	132				
BCL11B	64919	broad.mit.edu	37	14	99723900	99723900	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr14:99723900G>A	ENST00000357195.3	-	2	344	c.335C>T	c.(334-336)cCg>cTg	p.P112L	BCL11B_ENST00000345514.2_Missense_Mutation_p.P112L|BCL11B_ENST00000443726.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	112					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P112L(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GATCTCCACCGGCTCGGACAC	0.607			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		1	Substitution - Missense(1)		lung(1)	central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(334-336)CCG>CTG		B-cell CLL/lymphoma 11B isoform 1							91.0	89.0	90.0					14																	99723900		2203	4300	6503	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99723900G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.335C>T	14.37:g.99723900G>A	ENSP00000349723:p.Pro112Leu					BCL11B_uc001ygb.2_Missense_Mutation_p.P112L	p.P112L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	2	602	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	112					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.335C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190325	0.94923	.	.	ENSG00000127152	ENST00000357195;ENST00000345514	T;T	0.30448	1.53;2.27	5.79	5.79	0.91817	.	0.291607	0.26836	N	0.022242	T	0.56630	0.1998	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.85130	0.997;0.46	T	0.55630	-0.8111	10	0.72032	D	0.01	-14.4946	20.0263	0.97523	0.0:0.0:1.0:0.0	.	112;112	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	L	112	ENSP00000349723:P112L;ENSP00000280435:P112L	ENSP00000280435:P112L	P	-	2	0	BCL11B	98793653	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.731000	0.98807	2.735000	0.93741	0.655000	0.94253	CCG		0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		7	57	0	0	0	0.038147	0	7	57				
THSD4	79875	broad.mit.edu	37	15	71535077	71535077	+	Missense_Mutation	SNP	C	C	T	rs200233214		TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr15:71535077C>T	ENST00000355327.3	+	5	688	c.554C>T	c.(553-555)aCg>aTg	p.T185M	THSD4_ENST00000261862.6_Missense_Mutation_p.T185M			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	185	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.T185M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTGCACACACGCCACAGAGG	0.567																																							uc002atb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)ACG>ATG		thrombospondin, type I, domain containing 4		C	MET/THR	1,4197		0,1,2098	114.0	122.0	119.0		554	0.3	0.0	15		119	0,8462		0,0,4231	no	missense	THSD4	NM_024817.2	81	0,1,6329	TT,TC,CC		0.0,0.0238,0.0079	benign	185/1019	71535077	1,12659	2099	4231	6330	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535077C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.554C>T	15.37:g.71535077C>T	ENSP00000347484:p.Thr185Met					THSD4_uc002atd.1_Translation_Start_Site	p.T185M	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			4	633	+			185			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.554C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	9.228	1.035007	0.19590	2.38E-4	0.0	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.61742	0.08;0.08	5.63	0.33	0.15929	.	1.497030	0.04158	N	0.322587	T	0.38026	0.1025	N	0.22421	0.69	0.09310	N	1	B	0.31077	0.307	B	0.21917	0.037	T	0.20638	-1.0269	10	0.49607	T	0.09	.	1.628	0.02727	0.132:0.3857:0.2572:0.2251	.	185	Q6ZMP0	THSD4_HUMAN	M	185	ENSP00000347484:T185M;ENSP00000261862:T185M	ENSP00000261862:T185M	T	+	2	0	THSD4	69322131	0.000000	0.05858	0.000000	0.03702	0.615000	0.37417	-0.438000	0.06905	-0.173000	0.10761	-0.244000	0.11960	ACG		0.567	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		7	133	0	0	0	0.02938	0	7	133				
NFATC3	4775	broad.mit.edu	37	16	68160359	68160359	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr16:68160359C>T	ENST00000346183.3	+	3	1271	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.S416L|NFATC3_ENST00000329524.4_Missense_Mutation_p.S416L|NFATC3_ENST00000349223.5_Missense_Mutation_p.S416L	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	416	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S416L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGCACATCTTCATTACCTCCA	0.398																																							uc002evo.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1246-1248)TCA>TTA		nuclear factor of activated T-cells,							161.0	117.0	132.0					16																	68160359		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68160359C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1247C>T	16.37:g.68160359C>T	ENSP00000300659:p.Ser416Leu					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S416L|NFATC3_uc002evm.1_Missense_Mutation_p.S416L|NFATC3_uc002evn.1_Missense_Mutation_p.S416L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.S416L	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	3	1457	+		Ovarian(137;0.0563)	416			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1247C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977364	0.92982	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.11604	2.76;2.76;2.77	5.62	5.62	0.85841	Rel homology (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.73962	2.25	0.54753	D	0.999983	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.58520	0.699;0.84;0.699;0.699	T	0.02244	-1.1189	10	0.87932	D	0	-9.0749	19.655	0.95832	0.0:1.0:0.0:0.0	.	416;416;416;416	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	L	416	ENSP00000264008:S416L;ENSP00000300659:S416L;ENSP00000331324:S416L	ENSP00000331324:S416L	S	+	2	0	NFATC3	66717860	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.832000	0.69337	2.650000	0.89964	0.650000	0.86243	TCA		0.398	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		4	64	0	0	0	0.009096	0	4	64				
GRIK5	2901	broad.mit.edu	37	19	42507507	42507507	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr19:42507507G>A	ENST00000262895.3	-	18	2490	c.2491C>T	c.(2491-2493)Cgg>Tgg	p.R831W	GRIK5_ENST00000301218.4_Missense_Mutation_p.R831W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R831W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	831					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R831W(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GCTGACCTCCGTGTGGACCAT	0.577																																							uc002osj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2491-2493)CGG>TGG		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						77.0	68.0	71.0					19																	42507507		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42507507G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2491C>T	19.37:g.42507507G>A	ENSP00000262895:p.Arg831Trp					GRIK5_uc002osi.1_Missense_Mutation_p.R403W	p.R831W	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			18	2526	-		Prostate(69;0.059)	831			Cytoplasmic (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.2491C>T	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.486423|3.486423	0.63962|0.63962	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.18016|.	2.28;2.24|.	4.16|4.16	1.75|1.75	0.24633|0.24633	.|.	0.163773|.	0.38272|.	N|.	0.001744|.	T|T	0.64338|0.64338	0.2589|0.2589	L|L	0.61036|0.61036	1.89|1.89	0.46185|0.46185	D|D	0.998916|0.998916	D|.	0.71674|.	0.998|.	D|.	0.66084|.	0.941|.	T|T	0.67696|0.67696	-0.5604|-0.5604	10|6	0.87932|0.87932	D|D	0|0	.|.	10.8579|10.8579	0.46810|0.46810	0.0:0.0:0.5632:0.4368|0.0:0.0:0.5632:0.4368	.|.	831|.	Q16478|.	GRIK5_HUMAN|.	W|M	831|207	ENSP00000262895:R831W;ENSP00000301218:R831W|.	ENSP00000262895:R831W|ENSP00000408438:T207M	R|T	-|-	1|2	2|0	GRIK5|GRIK5	47199347|47199347	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.950000|0.950000	0.60333|0.60333	3.846000|3.846000	0.55888|0.55888	0.895000|0.895000	0.36342|0.36342	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			7	50	0	0	0	0.02938	0	7	50				
XIRP2	129446	broad.mit.edu	37	2	167760103	167760104	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr2:167760103_167760104GC>TT	ENST00000409728.1	+	2	200_201	c.111_112GC>TT	c.(109-114)caGCct>caTTct	p.37_38QP>HS	XIRP2_ENST00000295237.9_Missense_Mutation_p.37_38QP>HS|XIRP2_ENST00000409043.1_Missense_Mutation_p.37_38QP>HS|XIRP2_ENST00000409195.1_Missense_Mutation_p.37_38QP>HS|XIRP2_ENST00000420519.1_Missense_Mutation_p.37_38QP>HS|XIRP2_ENST00000409756.2_Missense_Mutation_p.37_38QP>HS	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2434					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q37_P38>HS(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATTTTCCAGCCTCAGGAAAG	0.495																																							uc002udx.2		NA																	2	Complex - compound substitution(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(109-114)CAGCCT>CATTCT		xin actin-binding repeat containing 2 isoform 1																																				SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760103_167760104GC>TT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	Exception_encountered	2.37:g.167760103_167760104delinsTT	ENSP00000386619:p.Q37_P38delinsHS					XIRP2_uc010fpn.2_Missense_Mutation_p.37_38QP>HS|XIRP2_uc010fpo.2_Missense_Mutation_p.37_38QP>HS|XIRP2_uc010fpp.2_Missense_Mutation_p.37_38QP>HS	p.37_38QP>HS	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	129_130	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	DNP	ENST00000409728.1	37	c.111_112GC>TT	CCDS56143.1																																																																																				0.495	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		4	41	0	0	0	0.004672	0	4	41				
XIRP2	129446	broad.mit.edu	37	2	168101995	168101995	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr2:168101995T>A	ENST00000409195.1	+	9	4182	c.4093T>A	c.(4093-4095)Tca>Aca	p.S1365T	XIRP2_ENST00000295237.9_Missense_Mutation_p.S1365T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1143T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1190					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S1365T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATTAATAAATCAGAAACTGT	0.368																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4093-4095)TCA>ACA		xin actin-binding repeat containing 2 isoform 1							66.0	62.0	63.0					2																	168101995		1844	4091	5935	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101995T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4093T>A	2.37:g.168101995T>A	ENSP00000386840:p.Ser1365Thr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1190T|XIRP2_uc010fpq.2_Missense_Mutation_p.S1143T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.S1365T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4111	+			1190					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4093T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857272	0.51376	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.78	4.62	0.57501	.	0.228608	0.38548	N	0.001646	T	0.04497	0.0123	L	0.49126	1.545	0.39795	D	0.97249	P;B;B	0.52316	0.952;0.323;0.323	B;B;B	0.43838	0.433;0.131;0.131	T	0.52593	-0.8555	10	0.35671	T	0.21	-1.9244	11.7095	0.51616	0.0:0.0702:0.0:0.9298	.	1190;1190;1143	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1365;1365;1143	ENSP00000386840:S1365T;ENSP00000295237:S1365T;ENSP00000387255:S1143T	ENSP00000295237:S1365T	S	+	1	0	XIRP2	167810241	1.000000	0.71417	0.986000	0.45419	0.826000	0.46750	1.566000	0.36396	1.010000	0.39314	0.460000	0.39030	TCA		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	58	0	0	0	0.009096	0	4	58				
TRIOBP	11078	broad.mit.edu	37	22	38120812	38120812	+	Missense_Mutation	SNP	A	A	C	rs538895783		TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr22:38120812A>C	ENST00000406386.3	+	7	2504	c.2249A>C	c.(2248-2250)cAg>cCg	p.Q750P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	750					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.Q750P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTGTGCCCAGCGGGACAAT	0.572																																							uc003atr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2248-2250)CAG>CCG		TRIO and F-actin binding protein isoform 6							140.0	153.0	149.0					22																	38120812		1971	4158	6129	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120812A>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2249A>C	22.37:g.38120812A>C	ENSP00000384312:p.Gln750Pro					TRIOBP_uc003atu.2_Missense_Mutation_p.Q578P|TRIOBP_uc003atq.1_Missense_Mutation_p.Q750P|TRIOBP_uc003ats.1_Missense_Mutation_p.Q578P	p.Q750P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2520	+	Melanoma(58;0.0574)		750					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2249A>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443994	0.43429	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20738	2.05	3.74	2.71	0.32032	.	.	.	.	.	T	0.20455	0.0492	M	0.65975	2.015	0.23780	N	0.996865	P	0.36733	0.567	B	0.36030	0.216	T	0.12889	-1.0530	9	0.27082	T	0.32	.	6.1082	0.20086	0.8825:0.0:0.1175:0.0	.	750	Q9H2D6	TARA_HUMAN	P	750	ENSP00000384312:Q750P	ENSP00000384312:Q750P	Q	+	2	0	TRIOBP	36450758	0.002000	0.14202	0.081000	0.20488	0.001000	0.01503	0.383000	0.20651	0.788000	0.33755	-0.473000	0.04963	CAG		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			3	39	0	0	0	0.004672	0	3	39				
UGT2B7	7364	broad.mit.edu	37	4	69978332	69978332	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr4:69978332T>G	ENST00000305231.7	+	6	1514	c.1468T>G	c.(1468-1470)Tct>Gct	p.S490A	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	490					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.S490A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCAGTACCACTCTTTGGATGT	0.473																																							uc003heg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1468-1470)TCT>GCT		UDP glucuronosyltransferase 2B7 precursor							177.0	167.0	170.0					4																	69978332		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978332T>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1468T>G	4.37:g.69978332T>G	ENSP00000304811:p.Ser490Ala					UGT2B7_uc010ihq.2_3'UTR	p.S490A	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1514	+			490					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1468T>G	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	T	3.708	-0.060213	0.07317	.	.	ENSG00000171234	ENST00000305231	T	0.69806	-0.43	2.13	0.842	0.18927	.	0.149742	0.43110	U	0.000612	T	0.76681	0.4021	H	0.95679	3.705	0.80722	D	1	B	0.25007	0.116	B	0.39771	0.309	T	0.70296	-0.4911	9	.	.	.	.	6.5955	0.22669	0.0:0.0:0.2426:0.7573	.	490	P16662	UD2B7_HUMAN	A	490	ENSP00000304811:S490A	.	S	+	1	0	UGT2B7	70012921	1.000000	0.71417	0.997000	0.53966	0.142000	0.21351	1.435000	0.34969	0.080000	0.16959	-1.552000	0.00895	TCT		0.473	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		6	142	0	0	0	0.038147	0	6	142				
GPRIN3	285513	broad.mit.edu	37	4	90169159	90169159	+	Silent	SNP	G	G	A	rs193188486		TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr4:90169159G>A	ENST00000609438.1	-	2	2621	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D	GPRIN3_ENST00000333209.4_Silent_p.D701D	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	701								p.D701D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGGACTCTGCGTCCAAGGATG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19201	0.001		0.0	False		,,,				2504	0.0						uc003hsm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2101-2103)GAC>GAT		G protein-regulated inducer of neurite outgrowth		G		0,4406		0,0,2203	72.0	68.0	69.0		2103	4.3	1.0	4		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPRIN3	NM_198281.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		701/777	90169159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90169159G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2103C>T	4.37:g.90169159G>A							p.D701D	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2622	-		Hepatocellular(203;0.114)	701					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.2103C>T	CCDS34030.1																																																																																				0.512	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		7	48	0	0	0	0.02938	0	7	48				
GRM6	2916	broad.mit.edu	37	5	178408828	178408828	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr5:178408828C>T	ENST00000517717.1	-	11	2502	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M	GRM6_ENST00000231188.5_Missense_Mutation_p.V822M|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	822					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.V822M(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCAAGGACACGGTTAGCGTG	0.572																																							uc003mjr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(2464-2466)GTG>ATG		glutamate receptor, metabotropic 6 precursor							184.0	156.0	166.0					5																	178408828		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178408828C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2464G>A	5.37:g.178408828C>T	ENSP00000430767:p.Val822Met					GRM6_uc003mjq.2_Missense_Mutation_p.V225M	p.V822M	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	10	2643	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	822			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.2464G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531950	0.85706	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89123	-2.47;-2.47	5.28	5.28	0.74379	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.91546	0.7330	L	0.41824	1.3	0.58432	D	0.999995	P;D	0.63046	0.924;0.992	B;D	0.67900	0.438;0.954	D	0.91838	0.5481	9	0.56958	D	0.05	.	16.7914	0.85590	0.0:1.0:0.0:0.0	.	822;116	O15303;Q5HYM4	GRM6_HUMAN;.	M	822	ENSP00000231188:V822M;ENSP00000430767:V822M	ENSP00000231188:V822M	V	-	1	0	GRM6	178341434	0.998000	0.40836	0.986000	0.45419	0.679000	0.39708	3.912000	0.56386	2.643000	0.89663	0.462000	0.41574	GTG		0.572	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			5	136	0	0	0	0.014758	0	5	136				
HIVEP1	3096	broad.mit.edu	37	6	12120213	12120213	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr6:12120213T>C	ENST00000379388.2	+	4	517	c.185T>C	c.(184-186)aTa>aCa	p.I62T		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	62					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I62T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAAAAAAATACCAAAATCC	0.398																																							uc003nac.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(184-186)ATA>ACA		human immunodeficiency virus type I enhancer							135.0	124.0	127.0					6																	12120213		1823	4080	5903	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12120213T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.185T>C	6.37:g.12120213T>C	ENSP00000368698:p.Ile62Thr					HIVEP1_uc011diq.1_RNA	p.I62T	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	364	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	62					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.185T>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123482	0.77436	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545	T	0.18657	2.2	5.79	5.79	0.91817	.	0.000000	0.40908	D	0.000983	T	0.41236	0.1150	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43393	-0.9394	10	0.87932	D	0	-27.1508	16.1354	0.81481	0.0:0.0:0.0:1.0	.	62	P15822	ZEP1_HUMAN	T	62	ENSP00000368698:I62T	ENSP00000368698:I62T	I	+	2	0	HIVEP1	12228199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.207000	0.71202	0.533000	0.62120	ATA		0.398	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		7	108	0	0	0	0.02938	0	7	108				
ABCA13	154664	broad.mit.edu	37	7	48266967	48266967	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr7:48266967G>C	ENST00000435803.1	+	6	601	c.577G>C	c.(577-579)Gat>Cat	p.D193H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	193					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D138H(1)|p.D193H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACAAGCCATGATCATGTGGA	0.398																																							uc003toq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(577-579)GAT>CAT		ATP binding cassette, sub-family A (ABC1),							115.0	114.0	114.0					7																	48266967		1889	4132	6021	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266967G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.577G>C	7.37:g.48266967G>C	ENSP00000411096:p.Asp193His					ABCA13_uc003top.2_Missense_Mutation_p.D193H|ABCA13_uc010kyr.2_5'UTR	p.D193H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			6	602	+			193					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.577G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680208	0.29872	.	.	ENSG00000179869	ENST00000435803	T	0.29142	1.58	5.21	-1.29	0.09288	.	2.027360	0.02998	N	0.147697	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	P;P	0.42010	0.657;0.768	B;B	0.41036	0.187;0.346	T	0.10543	-1.0625	10	0.15499	T	0.54	.	3.1716	0.06554	0.3487:0.0:0.3525:0.2988	.	193;193	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	H	193	ENSP00000411096:D193H	ENSP00000409268:D193H	D	+	1	0	ABCA13	48237513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.665000	0.05286	-0.032000	0.13758	0.557000	0.71058	GAT		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	85	0	0	0	0.009096	0	4	85				
ADAM18	8749	broad.mit.edu	37	8	39525666	39525666	+	Silent	SNP	C	C	T	rs35144407	byFrequency	TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr8:39525666C>T	ENST00000265707.5	+	14	1521	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.N468N	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	492	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N492N(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGCTATAACGGACAATGTC	0.378													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18207	0.0		0.0	False		,,,				2504	0.0						uc003xni.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1474-1476)AAC>AAT		a disintegrin and metalloprotease domain 18		C		31,4375	35.2+/-66.4	0,31,2172	228.0	201.0	211.0		1476	-1.6	1.0	8	dbSNP_126	211	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM18	NM_014237.2		0,32,6471	TT,TC,CC		0.0116,0.7036,0.246		492/740	39525666	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525666C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1476C>T	8.37:g.39525666C>T						ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.N468N	p.N492N	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1476	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	492			Cys-rich.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.1476C>T	CCDS6113.1																																																																																				0.378	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		7	179	0	0	0	0.058154	0	7	179				
CYBB	1536	broad.mit.edu	37	X	37663304	37663304	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chrX:37663304G>C	ENST00000378588.4	+	9	1139	c.1072G>C	c.(1072-1074)Gtt>Ctt	p.V358L	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.V326L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.V91L	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	358	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.V358L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TATCCGCATCGTTGGGGACTG	0.468																																							uc004ddr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1072-1074)GTT>CTT		cytochrome b-245 beta polypeptide							79.0	75.0	76.0					X																	37663304		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663304G>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1072G>C	X.37:g.37663304G>C	ENSP00000367851:p.Val358Leu					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V326L|CYBB_uc011mkg.1_Missense_Mutation_p.V91L	p.V358L	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1133	+			358			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.1072G>C	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121825	0.94429	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.94280	-3.39;-3.39;-3.39	5.77	5.77	0.91146	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	L	0.45228	1.405	0.80722	D	1	D;D	0.59767	0.971;0.986	P;P	0.62491	0.771;0.903	D	0.93087	0.6496	10	0.27082	T	0.32	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	326;358	F5GWD2;P04839	.;CY24B_HUMAN	L	358;326;91	ENSP00000367851:V358L;ENSP00000441896:V326L;ENSP00000441958:V91L	ENSP00000367851:V358L	V	+	1	0	CYBB	37548248	1.000000	0.71417	0.870000	0.34147	0.876000	0.50452	9.476000	0.97823	2.430000	0.82344	0.544000	0.68410	GTT		0.468	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			5	64	0	0	0	0.02938	0	5	64				
LAMTOR4	389541	broad.mit.edu	37	7	99747177	99747180	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-50-5055-01A-01D-1625-08	TCGA-50-5055-10A-01D-1625-08	TACT	TACT	-	-	TACT	TACT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12fe153e-a8f7-49ec-9e0c-f680e2311cf6	bd0b53df-7024-4f75-9903-6d1215a6016c	g.chr7:99747177_99747180delTACT	ENST00000341942.5	+	2	125_128	c.59_62delTACT	c.(58-63)gtactgfs	p.VL20fs	LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000441173.1_Frame_Shift_Del_p.VL20fs	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	20					cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											GGCTACCTGGTACTGAGTGAAGGT	0.569																																							uc003utq.2		NA																	0					0						c.(58-63)GTACTGfs		hypothetical protein LOC389541																																				SO:0001589	frameshift_variant	389541							g.chr7:99747177_99747180delTACT		CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.59_62delTACT	7.37:g.99747177_99747180delTACT	ENSP00000343118:p.Val20fs						p.V20fs	NM_001008395	NP_001008396	Q0VGL1	CG059_HUMAN			2	125_128	+			20_21						Frame_Shift_Del	DEL	ENST00000341942.5	37	c.59_62delTACT	CCDS34702.1																																																																																				0.569	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		16	192	NA	NA	NA	NA	NA	16	192	---	---	---	---
