#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
EPHB2	2048	broad.mit.edu	37	1	23208926	23208926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:23208926G>A	ENST00000400191.3	+	6	1396	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EPHB2_ENST00000374630.3_Missense_Mutation_p.D460N|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.D454N|EPHB2_ENST00000544305.1_Missense_Mutation_p.D460N|EPHB2_ENST00000374632.3_Missense_Mutation_p.D460N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTCCCAGCCGGACCAGCCCAA	0.607																																						uc009vqj.1																			0				ovary(3)|lung(1)|pancreas(1)	5						c.(1378-1380)GAC>AAC		ephrin receptor EphB2 isoform 1 precursor							150.0	136.0	141.0					1																	23208926		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23208926G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1378G>A	1.37:g.23208926G>A	ENSP00000383053:p.Asp460Asn					EPHB2_uc001bge.2_Missense_Mutation_p.D460N|EPHB2_uc001bgf.2_Missense_Mutation_p.D460N|EPHB2_uc010odu.1_Missense_Mutation_p.D460N	p.D460N	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	6	1523	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	460			Fibronectin type-III 2.|Extracellular (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1378G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.301710	0.81136	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.1	4.1	0.47936	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.115194	0.56097	D	0.000022	T	0.61502	0.2352	M	0.72353	2.195	0.58432	D	0.999998	B;B;B;B	0.33777	0.001;0.425;0.293;0.114	B;B;B;B	0.44224	0.001;0.395;0.395;0.444	T	0.66412	-0.5930	10	0.52906	T	0.07	.	15.0407	0.71788	0.0:0.0:1.0:0.0	.	460;460;478;460	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	N	460;460;460;460;460;454	ENSP00000444174:D460N;ENSP00000363761:D460N;ENSP00000383053:D460N;ENSP00000363763:D460N;ENSP00000363758:D454N	ENSP00000363755:D460N	D	+	1	0	EPHB2	23081513	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	9.546000	0.98097	2.123000	0.65237	0.491000	0.48974	GAC		0.607	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
AMPD2	271	broad.mit.edu	37	1	110171969	110171969	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:110171969G>A	ENST00000256578.3	+	14	2241	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPD2_ENST00000342115.4_Silent_p.V546V|AMPD2_ENST00000358729.4_Silent_p.V552V|AMPD2_ENST00000393688.3_Silent_p.V508V|AMPD2_ENST00000528667.1_Silent_p.V627V|AMPD2_ENST00000528454.1_Silent_p.V509V|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	627					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACAGCGTGGATGATGAGT	0.587																																						uc009wfh.1																			0				ovary(2)|breast(1)	3						c.(1879-1881)GTG>GTA		adenosine monophosphate deaminase 2 (isoform L)							168.0	168.0	168.0					1																	110171969		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171969G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1881G>A	1.37:g.110171969G>A						AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.V546V|AMPD2_uc001dyc.1_Silent_p.V627V|AMPD2_uc010ovr.1_Silent_p.V552V|AMPD2_uc001dyd.1_Silent_p.V508V|AMPD2_uc001dye.1_5'UTR	p.V627V	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	15	2423	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	627					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.1881G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.242|8.242	0.807025|0.807025	0.16467|0.16467	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000476688	.|.	.|.	.|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	T|.	0.54095|.	0.1837|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53683|.	-0.8404|.	4|.	.|.	.|.	.|.	-32.4637|-32.4637	12.6774|12.6774	0.56901|0.56901	0.0:0.1665:0.8335:0.0|0.0:0.1665:0.8335:0.0	.|.	.|.	.|.	.|.	R|X	598|16	.|.	.|.	G|W	+|+	1|2	0|0	AMPD2|AMPD2	109973492|109973492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.294000|5.294000	0.65687|0.65687	2.347000|2.347000	0.79759|0.79759	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.587	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
COPA	1314	broad.mit.edu	37	1	160268961	160268961	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:160268961G>A	ENST00000241704.7	-	18	1990	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	COPA_ENST00000368069.3_Silent_p.P596P	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	587					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGTACCCGGGGACGACACT	0.463																																						uc009wti.2																			0				ovary(1)|skin(1)	2						c.(1759-1761)CCC>CCT		coatomer protein complex, subunit alpha isoform							142.0	133.0	136.0					1																	160268961		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160268961G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1761C>T	1.37:g.160268961G>A						COPA_uc001fvv.3_Silent_p.P596P	p.P587P	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		18	2155	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		587					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1761C>T	CCDS1202.1																																																																																				0.463	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	
EPHX1	2052	broad.mit.edu	37	1	226027691	226027691	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:226027691G>A	ENST00000366837.4	+	6	1080	c.884G>A	c.(883-885)aGg>aAg	p.R295K	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.R295K	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	295					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AGCCTGATGAGGGAGAGCGGC	0.607																																						uc001hpk.2																			0				ovary(3)|lung(1)	4						c.(883-885)AGG>AAG		epoxide hydrolase 1							129.0	111.0	117.0					1																	226027691		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027691G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.884G>A	1.37:g.226027691G>A	ENSP00000355802:p.Arg295Lys					EPHX1_uc001hpl.2_Missense_Mutation_p.R295K	p.R295K	NM_001136018	NP_001129490	P07099	HYEP_HUMAN			6	964	+	Breast(184;0.197)		295					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.884G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629627	0.28978	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.66638	-0.22;-0.22	5.57	4.66	0.58398	Alpha/beta hydrolase fold-1 (1);	0.307172	0.32244	N	0.006375	T	0.44540	0.1298	N	0.20357	0.565	0.24772	N	0.992865	B	0.14805	0.011	B	0.21360	0.034	T	0.09862	-1.0655	10	0.31617	T	0.26	-20.8483	2.4294	0.04468	0.1549:0.1689:0.5233:0.1529	.	295	P07099	HYEP_HUMAN	K	295	ENSP00000272167:R295K;ENSP00000355802:R295K	ENSP00000272167:R295K	R	+	2	0	EPHX1	224094314	0.842000	0.29525	0.966000	0.40874	0.912000	0.54170	1.277000	0.33167	2.630000	0.89119	0.591000	0.81541	AGG		0.607	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120	
LRRC18	474354	broad.mit.edu	37	10	50121549	50121549	+	Missense_Mutation	SNP	G	G	A	rs201494402	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr10:50121549G>A	ENST00000374160.3	-	1	728	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R218W|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	218						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTGTCCCGGGCGTTTTGG	0.498													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19872	0.0		0.001	False		,,,				2504	0.0					uc001jhd.2																			0				ovary(1)|pancreas(1)	2						c.(652-654)CGG>TGG		leucine rich repeat containing 18							167.0	171.0	170.0					10																	50121549		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121549G>A	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.652C>T	10.37:g.50121549G>A	ENSP00000363275:p.Arg218Trp					WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R218W	p.R218W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			1	732	-			218					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.652C>T	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.471973	0.43942	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.60040	0.41;0.22	5.87	4.94	0.65067	.	0.105223	0.64402	D	0.000008	T	0.65668	0.2713	M	0.73962	2.25	0.43787	D	0.996326	D	0.71674	0.998	P	0.50791	0.65	T	0.68519	-0.5387	9	.	.	.	.	13.0508	0.58954	0.0:0.0:0.5423:0.4577	.	218	Q8N456	LRC18_HUMAN	W	218	ENSP00000363275:R218W;ENSP00000298124:R218W	.	R	-	1	2	LRRC18	49791555	0.854000	0.29725	0.288000	0.24862	0.271000	0.26615	1.917000	0.39996	1.426000	0.47256	0.655000	0.94253	CGG		0.498	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939	
OR56B1	387748	broad.mit.edu	37	11	5758585	5758585	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:5758585T>C	ENST00000317121.3	+	1	905	c.839T>C	c.(838-840)aTt>aCt	p.I280T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTACTTTGATTCCAGTTCTA	0.428																																						uc001mbt.1																			0				central_nervous_system(1)|skin(1)	2						c.(838-840)ATT>ACT		olfactory receptor, family 56, subfamily B,							303.0	281.0	289.0					11																	5758585		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758585T>C	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.839T>C	11.37:g.5758585T>C	ENSP00000322939:p.Ile280Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I280T	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	839	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	280			Extracellular (Potential).		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.839T>C	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295712	0.23564	.	.	ENSG00000181023	ENST00000317121	T	0.00115	8.71	5.67	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00210	0.0006	L	0.59436	1.845	0.09310	N	1	B	0.27498	0.18	B	0.37451	0.25	T	0.16394	-1.0404	10	0.56958	D	0.05	-4.9639	8.91	0.35548	0.0:0.1539:0.0:0.8461	.	280	Q8NGI3	O56B1_HUMAN	T	280	ENSP00000322939:I280T	ENSP00000322939:I280T	I	+	2	0	OR56B1	5715161	0.000000	0.05858	0.584000	0.28653	0.657000	0.38888	0.542000	0.23222	0.959000	0.37980	0.533000	0.62120	ATT		0.428	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180	
TRPC6	7225	broad.mit.edu	37	11	101323720	101323720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:101323720G>A	ENST00000344327.3	-	13	3186	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	TRPC6_ENST00000360497.4_Missense_Mutation_p.S866F|TRPC6_ENST00000532133.1_Missense_Mutation_p.S843F|TRPC6_ENST00000348423.4_Missense_Mutation_p.S805F	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	921					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGTTCCATGGATAATTTCTC	0.348																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2761-2763)TCC>TTC		transient receptor potential cation channel,							197.0	196.0	196.0					11																	101323720		2202	4300	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323720G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2762C>T	11.37:g.101323720G>A	ENSP00000340913:p.Ser921Phe					TRPC6_uc009ywy.2_Missense_Mutation_p.S805F	p.S921F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	13	3187	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	921			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2762C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463038	0.43736	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79845	-1.14;-1.22;-1.04;-1.31	5.65	4.74	0.60224	.	0.278041	0.35903	N	0.002919	T	0.77512	0.4141	L	0.29908	0.895	0.40991	D	0.984852	D;P	0.61080	0.989;0.694	P;B	0.52066	0.689;0.176	T	0.79902	-0.1607	10	0.66056	D	0.02	-1.9998	10.8571	0.46804	0.0704:0.1308:0.7988:0.0	.	805;921	Q9Y210-2;Q9Y210	.;TRPC6_HUMAN	F	921;843;805;866	ENSP00000340913:S921F;ENSP00000435574:S843F;ENSP00000343672:S805F;ENSP00000353687:S866F	ENSP00000340913:S921F	S	-	2	0	TRPC6	100828930	1.000000	0.71417	0.062000	0.19696	0.990000	0.78478	3.324000	0.52022	1.402000	0.46780	0.650000	0.86243	TCC		0.348	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
ITGA5	3678	broad.mit.edu	37	12	54793512	54793512	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr12:54793512G>A	ENST00000293379.4	-	27	3019	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	920					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCTCACAGCGCAGCCTGAAA	0.552											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sga.2																			0				ovary(2)	2						c.(2758-2760)CGC>TGC		integrin alpha 5 precursor							80.0	82.0	81.0					12																	54793512		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54793512G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2758C>T	12.37:g.54793512G>A	ENSP00000293379:p.Arg920Cys		OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1003		p.R920C	NM_002205	NP_002196	P08648	ITA5_HUMAN			27	2826	-			920			Extracellular (Potential).		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2758C>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755114	0.69648	.	.	ENSG00000161638	ENST00000293379	T	0.52057	0.68	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.463268	0.24085	N	0.041681	T	0.55924	0.1951	L	0.50333	1.59	0.46437	D	0.99904	D	0.67145	0.996	P	0.56788	0.806	T	0.58042	-0.7706	10	0.56958	D	0.05	.	13.2285	0.59929	0.0:0.0:1.0:0.0	.	920	P08648	ITA5_HUMAN	C	920	ENSP00000293379:R920C	ENSP00000293379:R920C	R	-	1	0	ITGA5	53079779	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.722000	0.54948	2.389000	0.81357	0.655000	0.94253	CGC		0.552	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
OR4K13	390433	broad.mit.edu	37	14	20502539	20502539	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:20502539A>G	ENST00000315693.2	-	1	380	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCATATGGCAACA	0.478																																						uc010tkz.1																			0				ovary(2)	2						c.(379-381)TGC>CGC		olfactory receptor, family 4, subfamily K,							120.0	118.0	119.0					14																	20502539		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502539A>G		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.379T>C	14.37:g.20502539A>G	ENSP00000319322:p.Cys127Arg						p.C127R	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	379	-	all_cancers(95;0.00108)		127			Cytoplasmic (Potential).		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.379T>C	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.148644	0.37923	.	.	ENSG00000176253	ENST00000315693	T	0.34472	1.36	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.68732	0.3033	H	0.96365	3.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.78003	-0.2374	10	0.87932	D	0	.	11.2957	0.49277	1.0:0.0:0.0:0.0	.	127	Q8NH42	OR4KD_HUMAN	R	127	ENSP00000319322:C127R	ENSP00000319322:C127R	C	-	1	0	OR4K13	19572379	1.000000	0.71417	0.998000	0.56505	0.108000	0.19459	4.983000	0.63832	1.506000	0.48736	0.416000	0.27883	TGC		0.478	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
NID2	22795	broad.mit.edu	37	14	52535489	52535489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:52535489A>G	ENST00000216286.5	-	1	223	c.224T>C	c.(223-225)cTc>cCc	p.L75P	NID2_ENST00000541773.1_Missense_Mutation_p.L22P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	75					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTACGTAGAGGTTGCTGAA	0.612																																						uc001wzo.2																			0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(223-225)CTC>CCC		nidogen 2 precursor							96.0	81.0	86.0					14																	52535489		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535489A>G	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.224T>C	14.37:g.52535489A>G	ENSP00000216286:p.Leu75Pro					NID2_uc010tqs.1_Missense_Mutation_p.L75P|NID2_uc010tqt.1_Missense_Mutation_p.L75P|NID2_uc001wzp.2_Missense_Mutation_p.L75P	p.L75P	NM_007361	NP_031387	Q14112	NID2_HUMAN			1	458	-	Breast(41;0.0639)|all_epithelial(31;0.123)		75					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.224T>C	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.445597	0.63178	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.27557	1.66;1.66	4.81	3.65	0.41850	.	0.068037	0.56097	D	0.000035	T	0.53690	0.1812	M	0.88775	2.98	0.54753	D	0.999988	D;D;P	0.64830	0.986;0.994;0.895	P;P;P	0.61070	0.859;0.883;0.467	T	0.55891	-0.8069	10	0.51188	T	0.08	.	8.8124	0.34976	0.9075:0.0:0.0925:0.0	.	22;77;75	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	P	75;75;22;77	ENSP00000216286:L75P;ENSP00000443730:L22P	ENSP00000216286:L75P	L	-	2	0	NID2	51605239	1.000000	0.71417	0.675000	0.29917	0.596000	0.36781	5.977000	0.70492	0.682000	0.31407	0.374000	0.22700	CTC		0.612	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
OTX2	5015	broad.mit.edu	37	14	57269073	57269073	+	Splice_Site	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:57269073C>T	ENST00000555006.1	-	4	658	c.250G>A	c.(250-252)Gta>Ata	p.V84I	OTX2_ENST00000339475.5_Splice_Site_p.V92I|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Splice_Site_p.V84I|OTX2_ENST00000554788.1_Splice_Site_p.G33D|OTX2_ENST00000554559.1_Splice_Site_p.G33D			P32243	OTX2_HUMAN	orthodenticle homeobox 2	84					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418																																						uc001xcp.2																			0				ovary(1)	1						c.(250-252)GTA>ATA		orthodenticle homeobox 2 isoform b							99.0	107.0	105.0					14																	57269073		2203	4300	6503	SO:0001630	splice_region_variant	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57269073C>T	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.250-1G>A	14.37:g.57269073C>T						OTX2_uc010aou.2_Missense_Mutation_p.V84I|OTX2_uc001xcq.2_Missense_Mutation_p.V92I	p.V84I	NM_172337	NP_758840	P32243	OTX2_HUMAN			3	421	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		84			Homeobox.		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.250G>A	CCDS41960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.535057|3.535057	0.64972|0.64972	.|.	.|.	ENSG00000165588|ENSG00000165588	ENST00000554559|ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.|D;D;D;D;D	.|0.96459	.|-4.02;-4.02;-4.02;-4.02;-4.02	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.41097	.|D	.|0.000944	D|D	0.96911|0.96911	0.8991|0.8991	L|L	0.35414|0.35414	1.06|1.06	0.54753|0.54753	D|D	0.999986|0.999986	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.991	D|D	0.97845|0.97845	1.0271|1.0271	5|10	.|0.87932	.|D	.|0	.|.	18.6695|18.6695	0.91506|0.91506	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|92;84	.|F1T0D1;P32243	.|.;OTX2_HUMAN	D|I	33|92;84;84;92;84	.|ENSP00000343819:V92I;ENSP00000386185:V84I;ENSP00000452336:V84I;ENSP00000451357:V92I;ENSP00000451272:V84I	.|ENSP00000343819:V92I	G|V	-|-	2|1	0|0	OTX2|OTX2	56338826|56338826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	7.798000|7.798000	0.85924|0.85924	2.642000|2.642000	0.89623|0.89623	0.557000|0.557000	0.71058|0.71058	GGT|GTA		0.418	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	Missense_Mutation
TMEM229B	161145	broad.mit.edu	37	14	67940183	67940183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:67940183G>A	ENST00000557006.1	-	4	740	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM229B_ENST00000357461.2_Missense_Mutation_p.P153L			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	153						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGCCGCTGGGCTCCCCGGG	0.647																																						uc001xjk.2																			0				central_nervous_system(1)	1						c.(457-459)CCC>CTC		transmembrane protein 229B							45.0	50.0	48.0					14																	67940183		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940183G>A	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.458C>T	14.37:g.67940183G>A	ENSP00000451774:p.Pro153Leu					TMEM229B_uc001xjj.1_RNA	p.P153L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			3	868	-			153			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000557006.1	37	c.458C>T	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987378	0.93106	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.17	4.17	0.49024	.	0.381500	0.25302	N	0.031643	T	0.48892	0.1525	N	0.24115	0.695	0.58432	D	0.999999	B	0.31893	0.345	B	0.36534	0.227	T	0.54846	-0.8232	9	0.54805	T	0.06	-25.1633	16.5062	0.84273	0.0:0.0:1.0:0.0	.	153	Q8NBD8	T229B_HUMAN	L	153	.	ENSP00000350050:P153L	P	-	2	0	TMEM229B	67009936	1.000000	0.71417	0.872000	0.34217	0.840000	0.47671	5.854000	0.69503	1.884000	0.54569	0.555000	0.69702	CCC		0.647	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526	
KLC1	3831	broad.mit.edu	37	14	104135871	104135871	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:104135871C>A	ENST00000348520.6	+	6	1140	c.821C>A	c.(820-822)gCa>gAa	p.A274E	KLC1_ENST00000557575.1_Missense_Mutation_p.A274E|KLC1_ENST00000445352.4_Missense_Mutation_p.A272E|KLC1_ENST00000389744.4_Missense_Mutation_p.A274E|KLC1_ENST00000334553.6_Missense_Mutation_p.A274E|KLC1_ENST00000553286.1_Missense_Mutation_p.A274E|KLC1_ENST00000380038.3_Missense_Mutation_p.A274E|KLC1_ENST00000557450.1_Missense_Mutation_p.A274E|KLC1_ENST00000555836.1_Missense_Mutation_p.A274E|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.A446E|KLC1_ENST00000347839.6_Missense_Mutation_p.A274E|KLC1_ENST00000554280.1_Missense_Mutation_p.A274E|KLC1_ENST00000246489.7_Missense_Mutation_p.A274E|KLC1_ENST00000452929.2_Missense_Mutation_p.A274E	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	274					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TACAAAGATGCAGCTAACCTA	0.328																																						uc001yno.2																			0					0						c.(820-822)GCA>GAA		kinesin light chain 1 isoform 2							124.0	120.0	122.0					14																	104135871		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104135871C>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.821C>A	14.37:g.104135871C>A	ENSP00000341154:p.Ala274Glu					KLC1_uc010tyd.1_Missense_Mutation_p.A433E|KLC1_uc010tye.1_Missense_Mutation_p.A270E|KLC1_uc001ynm.1_Missense_Mutation_p.A274E|KLC1_uc001ynn.1_Missense_Mutation_p.A268E|KLC1_uc010tyf.1_Missense_Mutation_p.A274E	p.A274E	NM_182923	NP_891553	Q07866	KLC1_HUMAN			6	1129	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	274			TPR 2.		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.821C>A	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251713	0.95336	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.96525	0.8866	H	0.98577	4.27	0.80722	D	1	D;D;D;D;D	0.89917	0.976;1.0;0.998;0.999;0.977	P;D;D;D;P	0.81914	0.712;0.977;0.983;0.995;0.884	D	0.97830	1.0262	10	0.87932	D	0	-9.7704	19.6493	0.95794	0.0:1.0:0.0:0.0	.	274;274;446;274;272	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	E	274;274;274;274;274;274;274;274;274;274;274;274;274;272;446	ENSP00000341154:A274E;ENSP00000369377:A274E;ENSP00000374394:A274E;ENSP00000450617:A274E;ENSP00000452487:A274E;ENSP00000334618:A274E;ENSP00000452481:A274E;ENSP00000334523:A274E;ENSP00000246489:A274E;ENSP00000450648:A274E;ENSP00000451242:A274E;ENSP00000414982:A274E;ENSP00000412693:A272E;ENSP00000439065:A446E	ENSP00000246489:A274E	A	+	2	0	KLC1;RP11-73M18.2	103205624	1.000000	0.71417	0.867000	0.34043	0.995000	0.86356	7.760000	0.85248	2.711000	0.92665	0.591000	0.81541	GCA		0.328	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552	
HDC	3067	broad.mit.edu	37	15	50534668	50534668	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:50534668C>A	ENST00000267845.3	-	12	2180	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.S560I	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTTCTGAGCACTCACTGGCAC	0.532																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1777-1779)AGT>ATT		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						154.0	170.0	164.0					15																	50534668		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534668C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1778G>T	15.37:g.50534668C>A	ENSP00000267845:p.Ser593Ile					HDC_uc001zxy.2_Missense_Mutation_p.S336I|HDC_uc010uff.1_Missense_Mutation_p.S560I	p.S593I	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1884	-		all_lung(180;0.0138)	593						Missense_Mutation	SNP	ENST00000267845.3	37	c.1778G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949570	0.18356	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10192	3.01;2.9	5.48	2.59	0.31030	.	0.332817	0.26086	N	0.026433	T	0.06872	0.0175	N	0.22421	0.69	0.09310	N	1	B;B	0.28128	0.201;0.09	B;B	0.21360	0.021;0.034	T	0.28870	-1.0030	10	0.87932	D	0	-1.7839	8.1195	0.30963	0.0:0.5743:0.0:0.4257	.	560;593	B7ZM01;P19113	.;DCHS_HUMAN	I	593;560	ENSP00000267845:S593I;ENSP00000440252:S560I	ENSP00000267845:S593I	S	-	2	0	HDC	48321960	0.000000	0.05858	0.036000	0.18154	0.598000	0.36846	0.285000	0.18883	0.686000	0.31488	0.563000	0.77884	AGT		0.532	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
MESP2	145873	broad.mit.edu	37	15	90321328	90321328	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90321328G>A	ENST00000341735.3	+	2	957	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Silent_p.S21S	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	319					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGTCTGTCGCTGGGAGCTC	0.597																																						uc002bon.2																			0					0						c.(955-957)TCG>TCA		mesoderm posterior 2 homolog							49.0	52.0	51.0					15																	90321328		1990	4170	6160	SO:0001819	synonymous_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90321328G>A		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.957G>A	15.37:g.90321328G>A						MESP2_uc010uqa.1_Silent_p.S21S	p.S319S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	957	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		319					Q7RTU2	Silent	SNP	ENST00000341735.3	37	c.957G>A	CCDS42078.1																																																																																				0.597	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261	
ARPIN	348110	broad.mit.edu	37	15	90451602	90451602	+	Missense_Mutation	SNP	G	G	A	rs374275505		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90451602G>A	ENST00000357484.5	-	3	331	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.R71C|C15orf38_ENST00000460685.1_5'UTR	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		71					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AATTTACGGCGATGGATGTGA	0.567																																						uc002bos.3																			0					0						c.(211-213)CGC>TGC		hypothetical protein LOC348110		G	CYS/ARG,CYS/ARG	0,4196		0,0,2098	113.0	118.0	116.0		211,211	2.7	0.7	15		116	2,8424		0,2,4211	no	missense,missense	C15orf38,C15orf38-AP3S2	NM_182616.2,NM_001199058.1	180,180	0,2,6309	AA,AG,GG		0.0237,0.0,0.0158	benign,benign	71/227,71/395	90451602	2,12620	2098	4213	6311	SO:0001583	missense	10239				intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity	g.chr15:90451602G>A																												ENST00000357484.5:c.211C>T	15.37:g.90451602G>A	ENSP00000350075:p.Arg71Cys					C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.R71C	p.R71C	NM_182616	NP_872422	P59780	AP3S2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		3	366	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)		Error:Variant_position_missing_in_P59780_after_alignment					E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.211C>T	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300701	0.40694	0.0	2.37E-4	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.49720	0.77	5.58	2.66	0.31614	.	0.070956	0.56097	U	0.000024	T	0.36468	0.0968	L	0.45228	1.405	0.80722	D	1	B;B	0.14805	0.011;0.009	B;B	0.11329	0.006;0.005	T	0.14448	-1.0472	10	0.56958	D	0.05	-11.06	7.1343	0.25519	0.1521:0.0:0.7099:0.1379	.	71;71	Q7Z6K5;E2QRD5	CO038_HUMAN;.	C	71	ENSP00000381377:R71C	ENSP00000381377:R71C	R	-	1	0	C15orf38-AP3S2;C15orf38	88252606	1.000000	0.71417	0.656000	0.29637	0.023000	0.10783	2.420000	0.44679	0.298000	0.22638	0.551000	0.68910	CGC		0.567	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1		
PLCG2	5336	broad.mit.edu	37	16	81944227	81944227	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr16:81944227C>T	ENST00000359376.3	+	18	2050	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	612	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCATCTATGCCCTCATCCAGC	0.642																																						uc002fgt.2																			0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1834-1836)GCC>GCT		phospholipase C, gamma 2							175.0	191.0	186.0					16																	81944227		2157	4264	6421	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944227C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1836C>T	16.37:g.81944227C>T						PLCG2_uc010chg.1_Silent_p.A612A	p.A612A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			18	1988	+			612			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1836C>T	CCDS42204.1																																																																																				0.642	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
DNAH2	146754	broad.mit.edu	37	17	7668816	7668816	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:7668816C>T	ENST00000572933.1	+	21	4904	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	DNAH2_ENST00000389173.2_Silent_p.G1148G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1148	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAAGACAGGCCTGATCCACT	0.463																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(3442-3444)GGC>GGT		dynein heavy chain domain 3							117.0	108.0	111.0					17																	7668816		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7668816C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3444C>T	17.37:g.7668816C>T							p.G1148G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			20	3458	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1148			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.3444C>T	CCDS32551.1																																																																																				0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
MYH4	4622	broad.mit.edu	37	17	10352234	10352234	+	Nonsense_Mutation	SNP	G	G	A	rs370141150		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:10352234G>A	ENST00000255381.2	-	31	4422	c.4312C>T	c.(4312-4314)Cga>Tga	p.R1438*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1438					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTAGATCGTTCCACATCA	0.438																																						uc002gmn.2																			0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4312-4314)CGA>TGA		myosin, heavy polypeptide 4, skeletal muscle		G	stop/ARG	0,4406		0,0,2203	106.0	98.0	101.0		4312	2.6	0.3	17		101	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1438/1940	10352234	1,13005	2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352234G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4312C>T	17.37:g.10352234G>A	ENSP00000255381:p.Arg1438*					uc002gml.1_Intron	p.R1438*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			31	4423	-			1438			Potential.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.4312C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	41	9.115501	0.99071	0.0	1.16E-4	ENSG00000141048	ENST00000255381	.	.	.	4.96	2.57	0.30868	.	0.000000	0.35151	U	0.003416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7247	0.62750	0.0:0.0:0.4729:0.5271	.	.	.	.	X	1438	.	ENSP00000255381:R1438X	R	-	1	2	MYH4	10292959	0.854000	0.29725	0.305000	0.25099	0.972000	0.66771	1.066000	0.30604	0.865000	0.35603	-0.410000	0.06199	CGA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.e4+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_uc010deh.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	p.S147_splice	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	688	-	Breast(5;2.15e-14)							B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					uc010dln.2																			2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	skin(3)	3						c.(1519-1521)AAA>GAA		ANKRD26-like family B, member 2							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.1_RNA	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1973	-			507			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
CPAMD8	27151	broad.mit.edu	37	19	17122460	17122460	+	Silent	SNP	G	G	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:17122460G>T	ENST00000443236.1	-	4	547	c.516C>A	c.(514-516)ggC>ggA	p.G172G	CPAMD8_ENST00000388925.4_Silent_p.G125G|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	125						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGCGCCCCGGCCGTCCACGG	0.672																																						uc002nfb.2																			0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(514-516)GGC>GGA		C3 and PZP-like, alpha-2-macroglobulin domain							50.0	55.0	54.0					19																	17122460		1872	4105	5977	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122460G>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.516C>A	19.37:g.17122460G>T							p.G172G	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			4	548	-			125					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.516C>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848200	0.02651	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	T	0.67192	0.2867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66392	-0.5935	4	.	.	.	.	13.0628	0.59015	0.0:0.0:1.0:0.0	.	.	.	.	D	183	.	.	A	-	2	0	CPAMD8	16983460	1.000000	0.71417	0.376000	0.26042	0.014000	0.08584	4.491000	0.60326	1.281000	0.44480	0.591000	0.81541	GCC		0.672	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
ZNF626	199777	broad.mit.edu	37	19	20807475	20807475	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:20807475C>G	ENST00000601440.1	-	4	1354	c.1208G>C	c.(1207-1209)gGc>gCc	p.G403A	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAAGCTTTGCCACATTCTTC	0.398																																						uc002npb.1																			0				skin(1)	1						c.(1207-1209)GGC>GCC		zinc finger protein 626 isoform 1							58.0	62.0	61.0					19																	20807475		2151	4277	6428	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807475C>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1208G>C	19.37:g.20807475C>G	ENSP00000469958:p.Gly403Ala					ZNF626_uc002npc.1_Missense_Mutation_p.G327A	p.G403A	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1358	-			403			C2H2-type 9.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1208G>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	6.264	0.416766	0.11870	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68412	0.2998	M	0.74546	2.27	0.80722	D	1	D	0.69078	0.997	D	0.65233	0.933	T	0.67094	-0.5757	8	0.72032	D	0.01	.	7.1275	0.25479	0.0:1.0:0.0:0.0	.	403	Q68DY1	ZN626_HUMAN	A	403;327;403	.	ENSP00000445201:G403A	G	-	2	0	ZNF626	20599315	0.812000	0.29077	0.020000	0.16555	0.020000	0.10135	1.385000	0.34408	0.284000	0.22305	0.289000	0.19496	GGC		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
PRODH2	58510	broad.mit.edu	37	19	36303630	36303630	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:36303630G>A	ENST00000301175.3	-	2	323	c.306C>T	c.(304-306)ggC>ggT	p.G102G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	102					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGGCCCCGCCATCAAAGC	0.652																																						uc002obx.1																			0				ovary(2)	2						c.(304-306)GGC>GGT		kidney and liver proline oxidase 1							39.0	40.0	40.0					19																	36303630		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303630G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.306C>T	19.37:g.36303630G>A							p.G102G	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	324	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		102						Silent	SNP	ENST00000301175.3	37	c.306C>T	CCDS12478.1																																																																																				0.652	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232	
PSG1	5669	broad.mit.edu	37	19	43376102	43376102	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:43376102C>T	ENST00000436291.2	-	3	642	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG1_ENST00000244296.2_Missense_Mutation_p.A176T|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.A176T|PSG1_ENST00000312439.6_Missense_Mutation_p.A176T	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	176	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGGTAGCTTGCGTCTGGAGTC	0.527																																						uc002ovb.2																			0				ovary(2)	2						c.(526-528)GCA>ACA		pregnancy specific beta-1-glycoprotein 1							252.0	239.0	243.0					19																	43376102		2201	4299	6500	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43376102C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.526G>A	19.37:g.43376102C>T	ENSP00000413041:p.Ala176Thr					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.A176T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.A176T|PSG1_uc010eio.1_Missense_Mutation_p.A176T|PSG1_uc002oux.1_Missense_Mutation_p.A105T|PSG1_uc002ouy.1_Missense_Mutation_p.A176T|PSG1_uc002ouz.1_Missense_Mutation_p.A176T|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.A176T	p.A176T	NM_006905	NP_008836	P11464	PSG1_HUMAN			3	664	-		Prostate(69;0.00682)	176			Ig-like C2-type 1.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.526G>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.746280	0.00669	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12465	2.68;2.68;2.68	1.46	-2.93	0.05598	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04952	0.0133	N	0.16037	0.36	0.09310	N	1	B;B;B;B;B;B;B;B	0.24963	0.026;0.055;0.068;0.001;0.002;0.115;0.012;0.055	B;B;B;B;B;B;B;B	0.26864	0.057;0.027;0.027;0.008;0.002;0.074;0.028;0.016	T	0.42103	-0.9471	9	0.06625	T	0.88	.	2.2142	0.03955	0.0:0.2599:0.3149:0.4251	.	176;176;176;176;176;48;176;176	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	T	176	ENSP00000413041:A176T;ENSP00000308970:A176T;ENSP00000244296:A176T	ENSP00000244296:A176T	A	-	1	0	PSG1	48067942	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.944000	0.03913	-0.204000	0.10235	0.184000	0.17185	GCA		0.527	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		
ZNF8	7554	broad.mit.edu	37	19	58806753	58806753	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:58806753G>A	ENST00000196548.5	+	4	1710	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	ZNF8_ENST00000608843.1_Missense_Mutation_p.G527R|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	527					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTCTGCAGGCGGAGCAAAGGC	0.557																																						uc002qry.1																			0				ovary(1)	1						c.(1579-1581)GGA>AGA		zinc finger protein 8							56.0	62.0	60.0					19																	58806753		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806753G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1579G>A	19.37:g.58806753G>A	ENSP00000196548:p.Gly527Arg					ZNF8_uc002qrz.2_RNA	p.G527R	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1709	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	527					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.1579G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743547	0.49151	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.05786	3.39	4.8	1.46	0.22682	.	0.636971	0.13696	N	0.369202	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.37820	-0.9689	10	0.87932	D	0	-5.2952	8.3296	0.32178	0.0997:0.3873:0.513:0.0	.	527	P17098	ZNF8_HUMAN	R	527;242	ENSP00000196548:G527R	ENSP00000196548:G527R	G	+	1	0	ZNF8	63498565	0.004000	0.15560	0.001000	0.08648	0.672000	0.39443	0.758000	0.26447	0.717000	0.32145	0.549000	0.68633	GGA		0.557	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089	
BIRC6	57448	broad.mit.edu	37	2	32740406	32740406	+	Missense_Mutation	SNP	G	G	A	rs112352145		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:32740406G>A	ENST00000421745.2	+	55	11052	c.10918G>A	c.(10918-10920)Gct>Act	p.A3640T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3640					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A3612S(1)|p.A3640S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGGAGTCTGGCTAGTTTCTG	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10918-10920)GCT>ACT		baculoviral IAP repeat-containing 6							82.0	77.0	79.0					2																	32740406		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740406G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10918G>A	2.37:g.32740406G>A	ENSP00000393596:p.Ala3640Thr						p.A3640T	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	11052	+	Acute lymphoblastic leukemia(172;0.155)		3640					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10918G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886234	0.33348	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.44	5.44	0.79542	.	0.185023	0.46145	D	0.000302	T	0.59851	0.2224	N	0.12746	0.255	0.47308	D	0.999389	B	0.10296	0.003	B	0.08055	0.003	T	0.53837	-0.8382	10	0.21540	T	0.41	.	19.2679	0.93997	0.0:0.0:1.0:0.0	.	3640	Q9NR09	BIRC6_HUMAN	T	3640	ENSP00000393596:A3640T	ENSP00000393596:A3640T	A	+	1	0	BIRC6	32593910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.736000	0.84948	2.563000	0.86464	0.585000	0.79938	GCT		0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
RGPD4	285190	broad.mit.edu	37	2	108476261	108476261	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:108476261C>T	ENST00000408999.3	+	12	1795	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P573L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	573					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGCCTTCAACCTGCTCTGCTT	0.328																																						uc010ywk.1																			0				skin(2)	2						c.(1717-1719)CCT>CTT		RANBP2-like and GRIP domain containing 4							6.0	7.0	7.0					2																	108476261		650	1532	2182	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108476261C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1718C>T	2.37:g.108476261C>T	ENSP00000386810:p.Pro573Leu					RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	p.P573L	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			12	1800	+			573					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1718C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.35	1.612004	0.28712	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.56941	0.43;0.43	2.6	2.6	0.31112	.	.	.	.	.	T	0.66992	0.2846	M	0.67953	2.075	0.47621	D	0.99947	D	0.76494	0.999	D	0.80764	0.994	T	0.67699	-0.5603	9	0.45353	T	0.12	-18.8899	11.8656	0.52490	0.0:1.0:0.0:0.0	.	573	Q7Z3J3	RGPD4_HUMAN	L	573;573;331	ENSP00000347081:P573L;ENSP00000386810:P573L	ENSP00000347081:P573L	P	+	2	0	RGPD4	107842693	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	6.434000	0.73408	1.299000	0.44798	0.152000	0.16155	CCT		0.328	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
GCC2	9648	broad.mit.edu	37	2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:109103046C>T	ENST00000309863.6	+	16	4586	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502																																						uc002tec.2																			0				ovary(1)	1						c.(3871-3873)ACG>ATG		GRIP and coiled-coil domain-containing 2							103.0	95.0	98.0					2																	109103046		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103046C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3872C>T	2.37:g.109103046C>T	ENSP00000307939:p.Thr1291Met					GCC2_uc002ted.2_Missense_Mutation_p.T1190M	p.T1291M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			16	4026	+			1291			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3872C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231335	0.39399	.	.	ENSG00000135968	ENST00000309863	T	0.34275	1.37	5.6	3.75	0.43078	.	0.225320	0.45126	D	0.000381	T	0.36936	0.0985	M	0.67953	2.075	0.09310	N	1	D	0.56521	0.976	P	0.44477	0.451	T	0.35798	-0.9774	10	0.59425	D	0.04	.	8.4297	0.32750	0.0:0.7325:0.128:0.1394	.	1291	Q8IWJ2	GCC2_HUMAN	M	1291	ENSP00000307939:T1291M	ENSP00000307939:T1291M	T	+	2	0	GCC2	108469478	0.036000	0.19791	0.163000	0.22734	0.313000	0.28021	1.467000	0.35321	1.377000	0.46286	0.655000	0.94253	ACG		0.502	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
ITGA4	3676	broad.mit.edu	37	2	182386969	182386969	+	Missense_Mutation	SNP	G	G	A	rs201430122		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:182386969G>A	ENST00000397033.2	+	18	2404	c.1974G>A	c.(1972-1974)atG>atA	p.M658I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	658					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGACATTGATGTTGAATGTGT	0.333																																						uc002unu.2																			0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1972-1974)ATG>ATA		integrin alpha 4 precursor	Natalizumab(DB00108)	G	ILE/MET	0,3714		0,0,1857	178.0	161.0	166.0		1974	5.7	1.0	2		166	1,8231		0,1,4115	no	missense	ITGA4	NM_000885.4	10	0,1,5972	AA,AG,GG		0.0121,0.0,0.0084	possibly-damaging	658/1033	182386969	1,11945	1857	4116	5973	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182386969G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1974G>A	2.37:g.182386969G>A	ENSP00000380227:p.Met658Ile					ITGA4_uc010frj.1_Missense_Mutation_p.M140I|ITGA4_uc002unv.2_5'UTR	p.M658I	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		18	2737	+			658			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1974G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813197	0.50527	0.0	1.21E-4	ENSG00000115232	ENST00000397033	T	0.44083	0.93	5.67	5.67	0.87782	Integrin alpha-2 (1);	0.155818	0.64402	D	0.000002	T	0.51873	0.1700	L	0.59436	1.845	0.49582	D	0.999804	P;P	0.41498	0.752;0.752	P;P	0.47573	0.55;0.55	T	0.38023	-0.9680	10	0.30854	T	0.27	.	19.7656	0.96337	0.0:0.0:1.0:0.0	.	480;658	Q59H74;P13612	.;ITA4_HUMAN	I	658	ENSP00000380227:M658I	ENSP00000380227:M658I	M	+	3	0	ITGA4	182095214	1.000000	0.71417	0.988000	0.46212	0.723000	0.41478	3.435000	0.52849	2.669000	0.90835	0.585000	0.79938	ATG		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
VIL1	7429	broad.mit.edu	37	2	219301876	219301876	+	Silent	SNP	C	C	T	rs372807005		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:219301876C>T	ENST00000248444.5	+	17	2089	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	VIL1_ENST00000392114.2_Silent_p.N356N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	667	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATGCCAACGAGGAGGAGA	0.572																																						uc002via.2																			0				ovary(1)	1						c.(1999-2001)AAC>AAT		villin 1		C		1,4405	2.1+/-5.4	0,1,2202	114.0	113.0	113.0		2001	-9.7	0.2	2		113	0,8600		0,0,4300	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		667/828	219301876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301876C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2001C>T	2.37:g.219301876C>T						VIL1_uc010zke.1_Silent_p.N356N|VIL1_uc002vib.2_Silent_p.N667N	p.N667N	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2066	+		Renal(207;0.0474)	667			Gelsolin-like 6.|Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.2001C>T	CCDS2417.1																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
PAX3	5077	broad.mit.edu	37	2	223084911	223084911	+	Missense_Mutation	SNP	G	G	A	rs45607236		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:223084911G>A	ENST00000350526.4	-	7	1257	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	PAX3_ENST00000392069.2_Missense_Mutation_p.S374L|PAX3_ENST00000392070.2_Missense_Mutation_p.S374L|PAX3_ENST00000336840.6_Missense_Mutation_p.S374L|PAX3_ENST00000344493.4_Missense_Mutation_p.S374L|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000409551.3_Missense_Mutation_p.S373L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	374					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGGCCCCGACGGAGGCAC	0.552			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(1120-1122)TCG>TTG		paired box 3 isoform PAX3							120.0	111.0	114.0					2																	223084911		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223084911G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1121C>T	2.37:g.223084911G>A	ENSP00000343052:p.Ser374Leu					PAX3_uc002vmt.1_Missense_Mutation_p.S374L|PAX3_uc002vmy.1_Missense_Mutation_p.S373L|PAX3_uc002vmv.1_Missense_Mutation_p.S374L|PAX3_uc002vmw.1_Missense_Mutation_p.S374L|PAX3_uc002vmx.1_Missense_Mutation_p.S374L	p.S374L	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1487	-		Renal(207;0.0183)	374					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1121C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053661	0.55218	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.68	5.68	0.88126	.	0.301662	0.37348	N	0.002131	T	0.74981	0.3788	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P	0.51791	0.948;0.676;0.802;0.936;0.625	B;B;B;B;B	0.43658	0.426;0.102;0.09;0.388;0.088	T	0.72975	-0.4128	10	0.26408	T	0.33	.	19.7917	0.96461	0.0:0.0:1.0:0.0	rs45607236	374;373;374;374;374	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	L	374;374;374;374;374;373;91;91	ENSP00000375921:S374L;ENSP00000342092:S374L;ENSP00000343052:S374L;ENSP00000375922:S374L;ENSP00000338767:S374L;ENSP00000386750:S373L	ENSP00000338767:S374L	S	-	2	0	PAX3	222793155	1.000000	0.71417	0.939000	0.37840	0.984000	0.73092	5.730000	0.68546	2.685000	0.91497	0.650000	0.86243	TCG		0.552	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
C2orf57	165100	broad.mit.edu	37	2	232457869	232457869	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:232457869C>T	ENST00000313965.2	+	1	295	c.207C>T	c.(205-207)gaC>gaT	p.D69D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	69										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAGACAAAGACAAGAGTGCAG	0.532																																						uc002vrz.2																			0				ovary(1)	1						c.(205-207)GAC>GAT		hypothetical protein LOC165100							121.0	126.0	124.0					2																	232457869		2203	4300	6503	SO:0001819	synonymous_variant	165100							g.chr2:232457869C>T	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.207C>T	2.37:g.232457869C>T							p.D69D	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	258	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	69					Q8N4F2	Silent	SNP	ENST00000313965.2	37	c.207C>T	CCDS2487.1																																																																																				0.532	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614	
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						uc010ztl.1																			2	Substitution - Missense(2)		urinary_tract(2)		0						c.(154-156)TTG>TCG		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S	p.L52S							3	187	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.155T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						uc010ztl.1																			2	Substitution - Missense(2)		urinary_tract(2)		0						c.(157-159)GCC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T	p.A53T							3	189	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.157G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
GTSF1L	149699	broad.mit.edu	37	20	42355070	42355070	+	Missense_Mutation	SNP	C	C	T	rs143516837	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:42355070C>T	ENST00000373003.1	-	1	568	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GTSF1L_ENST00000373005.2_Missense_Mutation_p.D89N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	89							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGGTGTCATCGTTCTGCTCT	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20087	0.0		0.0	False		,,,				2504	0.0					uc002xld.2																			0					0						c.(265-267)GAT>AAT		gametocyte specific factor 1-like isoform 1		C	ASN/ASP,ASN/ASP	17,4389	24.3+/-50.5	0,17,2186	134.0	112.0	120.0		265,265	-0.8	0.0	20	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense	GTSF1L	NM_001008901.1,NM_176791.3	23,23	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	benign,benign	89/124,89/149	42355070	17,12989	2203	4300	6503	SO:0001583	missense	149699						metal ion binding	g.chr20:42355070C>T	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.265G>A	20.37:g.42355070C>T	ENSP00000362094:p.Asp89Asn					GTSF1L_uc002xlc.2_Missense_Mutation_p.D89N	p.D89N	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	573	-		Myeloproliferative disorder(115;0.00452)	89					Q5JWH5	Missense_Mutation	SNP	ENST00000373003.1	37	c.265G>A	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664374	0.14710	0.003858	0.0	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.43294	0.95;0.98	3.31	-0.832	0.10785	.	2.388520	0.02250	N	0.066497	T	0.25121	0.0610	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10683	-1.0619	10	0.19147	T	0.46	-8.3104	6.098	0.20031	0.0:0.4958:0.0:0.5042	.	89;89	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	N	89	ENSP00000362094:D89N;ENSP00000362096:D89N	ENSP00000362094:D89N	D	-	1	0	GTSF1L	41788484	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.733000	0.04898	-0.135000	0.11495	0.430000	0.28490	GAT		0.517	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791	
EPPIN	57119	broad.mit.edu	37	20	44171338	44171338	+	Splice_Site	SNP	C	C	T	rs199533646		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:44171338C>T	ENST00000354280.4	-	3	458		c.e3+1		EPPIN_ENST00000555685.1_Splice_Site|EPPIN_ENST00000336443.3_Splice_Site|EPPIN-WFDC6_ENST00000504988.1_Splice_Site|EPPIN_ENST00000409554.1_Splice_Site	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTAGGACTTACGTTTATTCTT	0.507																																						uc002xou.2																			0				pancreas(1)	1						c.e3+1		serine peptidase inhibitor-like, with Kunitz and							160.0	172.0	168.0					20																	44171338		2203	4300	6503	SO:0001630	splice_region_variant	57119					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44171338C>T	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.391+1G>A	20.37:g.44171338C>T						SPINLW1_uc010zxc.1_Splice_Site_p.Q131_splice|SPINLW1_uc002xot.2_Splice_Site_p.R115_splice|SPINLW1_uc002xov.1_3'UTR	p.R131_splice	NM_020398	NP_065131	O95925	EPPI_HUMAN			3	423	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Splice_Site	SNP	ENST00000354280.4	37	c.391_splice	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323261	0.41096	.	.	ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000249139	ENST00000555685;ENST00000354280;ENST00000336443;ENST00000504988	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6999	0.57026	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPINLW1;SPINLW1-WFDC6	43604752	0.994000	0.37717	0.755000	0.31263	0.003000	0.03518	4.221000	0.58574	2.454000	0.82982	0.563000	0.77884	.		0.507	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4		Intron
COL6A2	1292	broad.mit.edu	37	21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A	rs368588676		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr21:47537831G>A	ENST00000300527.4	+	12	1201	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_ENST00000409416.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R366Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R366Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	366	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682																																						uc002zia.1																			0				central_nervous_system(7)|ovary(1)	8						c.(1096-1098)CGA>CAA		alpha 2 type VI collagen isoform 2C2 precursor		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	68.0	66.0	67.0		1097,1097,1097	-8.9	0.0	21		67	0,8592		0,0,4296	no	missense,missense,missense	COL6A2	NM_058175.2,NM_058174.2,NM_001849.3	43,43,43	0,1,6491	AA,AG,GG		0.0,0.0228,0.0077	benign,benign,benign	366/829,366/919,366/1020	47537831	1,12983	2196	4296	6492	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47537831G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1097G>A	21.37:g.47537831G>A	ENSP00000300527:p.Arg366Gln					COL6A2_uc002zhy.1_Missense_Mutation_p.R366Q|COL6A2_uc002zhz.1_Missense_Mutation_p.R366Q|COL6A2_uc002zib.1_Intron	p.R366Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	12	1179	+	Breast(49;0.245)		366			Triple-helical region.|Cell attachment site (Potential).		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1097G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	3.811	-0.039724	0.07497	2.28E-4	0.0	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.93659	-3.26;-3.26;-3.2;-3.2;-3.26	4.46	-8.92	0.00774	.	0.990388	0.08199	N	0.982630	T	0.78817	0.4343	N	0.04636	-0.2	0.19300	N	0.999976	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.68047	-0.5512	10	0.12766	T	0.61	1.5049	9.3706	0.38252	0.357:0.4206:0.2225:0.0	.	366;366;366	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	Q	366	ENSP00000300527:R366Q;ENSP00000350497:R366Q;ENSP00000312529:R366Q;ENSP00000387115:R366Q;ENSP00000380870:R366Q	ENSP00000300527:R366Q	R	+	2	0	COL6A2	46362259	0.000000	0.05858	0.011000	0.14972	0.179000	0.23085	-1.598000	0.02087	-2.704000	0.00397	0.305000	0.20034	CGA		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
EMID1	129080	broad.mit.edu	37	22	29621149	29621149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:29621149C>T	ENST00000404820.3	+	4	474	c.347C>T	c.(346-348)cCc>cTc	p.P116L	EMID1_ENST00000404755.3_Missense_Mutation_p.P116L|EMID1_ENST00000334018.6_Missense_Mutation_p.P116L|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	114						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTTGGAGCCCATGTGGTCG	0.637																																						uc003aen.2																			0					0						c.(340-342)CCC>CTC		EMI domain containing 1							123.0	111.0	115.0					22																	29621149		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29621149C>T	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.347C>T	22.37:g.29621149C>T	ENSP00000384452:p.Pro116Leu					EMID1_uc003aem.2_Missense_Mutation_p.P116L|EMID1_uc003aeo.2_Missense_Mutation_p.P116L|EMID1_uc003aep.2_Missense_Mutation_p.P116L	p.P114L	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			4	416	+			114					B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.341C>T		.	.	.	.	.	.	.	.	.	.	C	15.39	2.819178	0.50633	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820	D;T;D;D	0.90385	-2.65;0.76;-2.51;-2.66	4.62	4.62	0.57501	.	0.143660	0.32608	N	0.005873	D	0.94268	0.8159	M	0.72118	2.19	0.53688	D	0.99997	D;B;B;D	0.89917	1.0;0.007;0.002;1.0	D;B;B;D	0.91635	0.997;0.004;0.006;0.999	D	0.94385	0.7608	10	0.72032	D	0.01	-7.4969	13.148	0.59474	0.0:1.0:0.0:0.0	.	116;116;114;116	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	L	116	ENSP00000335481:P116L;ENSP00000403816:P116L;ENSP00000385414:P116L;ENSP00000384452:P116L	ENSP00000335481:P116L	P	+	2	0	EMID1	27951149	0.768000	0.28519	0.648000	0.29521	0.090000	0.18270	3.658000	0.54482	2.547000	0.85894	0.655000	0.94253	CCC		0.637	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455	
SFI1	9814	broad.mit.edu	37	22	31985517	31985517	+	Missense_Mutation	SNP	C	C	T	rs200458156		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:31985517C>T	ENST00000400288.2	+	15	1603	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	SFI1_ENST00000414585.1_Missense_Mutation_p.R347C|SFI1_ENST00000432498.1_Missense_Mutation_p.R469C|SFI1_ENST00000400289.1_Missense_Mutation_p.R418C|SFI1_ENST00000443011.1_Missense_Mutation_p.R347C|SFI1_ENST00000443326.1_Missense_Mutation_p.R418C|SFI1_ENST00000540643.1_Missense_Mutation_p.R445C	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	500					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGGCGATGGCGCCACCAGGA	0.532																																						uc003ale.2																			0				central_nervous_system(1)	1						c.(1498-1500)CGC>TGC		spindle assembly associated Sfi1 homolog isoform							111.0	112.0	112.0					22																	31985517		2063	4208	6271	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31985517C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1498C>T	22.37:g.31985517C>T	ENSP00000383145:p.Arg500Cys					SFI1_uc003ald.1_Missense_Mutation_p.R476C|SFI1_uc003alf.2_Missense_Mutation_p.R469C|SFI1_uc003alg.2_Missense_Mutation_p.R418C|SFI1_uc011alp.1_Missense_Mutation_p.R418C|SFI1_uc011alq.1_Missense_Mutation_p.R445C|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	p.R500C	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			15	1891	+			500					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.1498C>T	CCDS43004.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	9.529	1.110378	0.20714	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16324	2.95;3.01;2.82;2.8;2.81;2.82;2.93;2.35	4.91	2.83	0.33086	.	0.719556	0.13873	N	0.356850	T	0.08758	0.0217	N	0.08118	0	0.25177	N	0.990237	B;B;B;B;B;B	0.17465	0.011;0.022;0.003;0.011;0.001;0.011	B;B;B;B;B;B	0.15484	0.006;0.007;0.001;0.01;0.0;0.013	T	0.27020	-1.0086	10	0.46703	T	0.11	.	8.1843	0.31330	0.0:0.8104:0.0:0.1896	.	445;418;418;469;500;476	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	C	469;445;418;476;347;347;418;500;115	ENSP00000402679:R469C;ENSP00000443025:R445C;ENSP00000416469:R418C;ENSP00000397148:R347C;ENSP00000401199:R347C;ENSP00000383146:R418C;ENSP00000383145:R500C;ENSP00000398871:R115C	ENSP00000383145:R500C	R	+	1	0	SFI1	30315517	0.000000	0.05858	0.407000	0.26434	0.006000	0.05464	-0.438000	0.06905	0.769000	0.33313	-0.355000	0.07637	CGC		0.532	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
CCR8	1237	broad.mit.edu	37	3	39374277	39374277	+	Missense_Mutation	SNP	C	C	T	rs190329588	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:39374277C>T	ENST00000326306.4	+	2	593	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CCR8_ENST00000545843.1_Missense_Mutation_p.T69M|CCR8_ENST00000414803.1_Silent_p.N94N	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	152					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGGCACAACGCTGTGCCTG	0.502													C|||	3	0.000599042	0.0	0.0014	5008	,	,		22447	0.002		0.0	False		,,,				2504	0.0					uc010hhr.2																			0				ovary(1)|lung(1)	2						c.(454-456)ACG>ATG		chemokine (C-C motif) receptor 8							208.0	188.0	195.0					3																	39374277		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374277C>T	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.455C>T	3.37:g.39374277C>T	ENSP00000326432:p.Thr152Met					CCR8_uc003cjm.2_Missense_Mutation_p.T69M	p.T152M	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	593	+			152			Helical; Name=4; (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.455C>T	CCDS2684.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	1.496	-0.553408	0.03996	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.72167	-0.63;-0.63	4.76	-0.622	0.11560	GPCR, rhodopsin-like superfamily (1);	0.674733	0.14575	N	0.311217	T	0.41465	0.1160	N	0.03071	-0.42	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.23419	0.029;0.046	T	0.29882	-0.9997	10	0.49607	T	0.09	.	5.8653	0.18771	0.0:0.3141:0.1463:0.5396	.	152;69	P51685;Q3KNR3	CCR8_HUMAN;.	M	152;69	ENSP00000326432:T152M;ENSP00000440474:T69M	ENSP00000326432:T152M	T	+	2	0	CCR8	39349281	0.000000	0.05858	0.121000	0.21740	0.035000	0.12851	0.196000	0.17176	-0.340000	0.08388	-0.794000	0.03295	ACG		0.502	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
CAMKV	79012	broad.mit.edu	37	3	49898275	49898275	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:49898275T>C	ENST00000477224.1	-	8	1127	c.649A>G	c.(649-651)Aat>Gat	p.N217D	CAMKV_ENST00000467248.1_Missense_Mutation_p.N142D|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_Missense_Mutation_p.N217D|CAMKV_ENST00000466940.1_Missense_Mutation_p.N174D|CAMKV_ENST00000463537.1_Missense_Mutation_p.N217D|CAMKV_ENST00000296471.7_Missense_Mutation_p.N189D|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAAGGTGGATTGCCTGAAAGC	0.512																																						uc003cxt.1																			0				ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7						c.(649-651)AAT>GAT		CaM kinase-like vesicle-associated							151.0	154.0	153.0					3																	49898275		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898275T>C	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.649A>G	3.37:g.49898275T>C	ENSP00000419195:p.Asn217Asp					CAMKV_uc011bcy.1_Missense_Mutation_p.N142D|CAMKV_uc003cxv.1_Missense_Mutation_p.N189D|CAMKV_uc003cxw.1_Missense_Mutation_p.N49D|CAMKV_uc003cxx.1_Missense_Mutation_p.N49D|CAMKV_uc003cxu.2_Missense_Mutation_p.N217D|CAMKV_uc011bcz.1_Missense_Mutation_p.N180D|CAMKV_uc011bda.1_Missense_Mutation_p.N174D|CAMKV_uc011bdb.1_RNA	p.N217D	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	8	842	-			217			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.649A>G	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261485	0.59431	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000289	T	0.66147	0.2760	N	0.13043	0.29	0.58432	D	0.999998	D;P;D;D;D;D;D	0.89917	0.999;0.811;0.999;1.0;0.999;0.999;0.999	D;P;D;D;D;D;D	0.87578	0.995;0.703;0.989;0.998;0.996;0.997;0.989	T	0.72849	-0.4168	10	0.87932	D	0	.	15.6043	0.76649	0.0:0.0:0.0:1.0	.	174;180;217;142;189;217;217	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	D	189;217;217;217;142;174	ENSP00000296471:N189D;ENSP00000418809:N217D;ENSP00000417614:N217D;ENSP00000419195:N217D;ENSP00000420053:N142D;ENSP00000420724:N174D	ENSP00000296471:N189D	N	-	1	0	CAMKV	49873279	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.244000	0.72391	2.098000	0.63641	0.459000	0.35465	AAT		0.512	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046	
NSUN3	63899	broad.mit.edu	37	3	93813043	93813043	+	Missense_Mutation	SNP	G	G	C	rs554392054		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:93813043G>C	ENST00000314622.4	+	4	737	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	176							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GCAGACGTTGGAATCTTTCAT	0.368																																						uc003drl.1																			0				skin(1)	1						c.(526-528)GAA>CAA		NOL1/NOP2/Sun domain family, member 3							88.0	83.0	85.0					3																	93813043		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93813043G>C	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.526G>C	3.37:g.93813043G>C	ENSP00000318986:p.Glu176Gln						p.E176Q	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			4	642	+			176					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.526G>C	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036044	0.54896	.	.	ENSG00000178694	ENST00000314622	T	0.20332	2.08	5.98	5.98	0.97165	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.104314	0.64402	D	0.000004	T	0.35682	0.0940	N	0.21240	0.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03060	-1.1077	10	0.35671	T	0.21	-15.0252	20.4581	0.99154	0.0:0.0:1.0:0.0	.	176	Q9H649	NSUN3_HUMAN	Q	176	ENSP00000318986:E176Q	ENSP00000318986:E176Q	E	+	1	0	NSUN3	95295733	1.000000	0.71417	0.983000	0.44433	0.399000	0.30720	7.044000	0.76578	2.835000	0.97688	0.650000	0.86243	GAA		0.368	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072	
RBM47	54502	broad.mit.edu	37	4	40440502	40440502	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:40440502G>A	ENST00000381793.2	-	3	805	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.R99C|RBM47_ENST00000381795.6_Missense_Mutation_p.R137C|RBM47_ENST00000295971.7_Missense_Mutation_p.R137C|RBM47_ENST00000319592.4_Missense_Mutation_p.R137C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	137	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R137C(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622																																						uc003gvc.2																			3	Substitution - Missense(3)		skin(3)	breast(3)	3						c.(409-411)CGC>TGC		RNA binding motif protein 47 isoform a							47.0	41.0	43.0					4																	40440502		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440502G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.409C>T	4.37:g.40440502G>A	ENSP00000371212:p.Arg137Cys					RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1119	-			137			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.409C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784146	0.49997	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.35789	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;1.29	5.78	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.61917	-0.6964	10	0.72032	D	0.01	-18.5288	15.6477	0.77068	0.0:0.0:0.7744:0.2256	.	137;137	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	137;137;137;137;99;137;137;137;137	ENSP00000320108:R137C;ENSP00000371212:R137C;ENSP00000371214:R137C;ENSP00000295971:R137C;ENSP00000423243:R99C;ENSP00000422564:R137C;ENSP00000421589:R137C;ENSP00000423527:R137C;ENSP00000426542:R137C	ENSP00000295971:R137C	R	-	1	0	RBM47	40135259	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	5.504000	0.66968	2.740000	0.93945	0.313000	0.20887	CGC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
KDR	3791	broad.mit.edu	37	4	55955885	55955885	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:55955885C>T	ENST00000263923.4	-	24	3572	c.3277G>A	c.(3277-3279)Gtt>Att	p.V1093I	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1093	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACAGCAAAACACCAAAAGAC	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3277-3279)GTT>ATT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						142.0	153.0	150.0					4																	55955885		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955885C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3277G>A	4.37:g.55955885C>T	ENSP00000263923:p.Val1093Ile	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.V1093I	p.V1093I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		24	3579	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1093			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3277G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597909	0.46318	.	.	ENSG00000128052	ENST00000263923	D	0.90788	-2.73	5.81	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.196131	0.42821	D	0.000644	T	0.80215	0.4582	N	0.05414	-0.055	0.58432	D	0.999992	B	0.31241	0.315	B	0.28784	0.094	T	0.77935	-0.2401	10	0.23302	T	0.38	.	15.7746	0.78204	0.0:0.924:0.0:0.076	.	1093	P35968	VGFR2_HUMAN	I	1093	ENSP00000263923:V1093I	ENSP00000263923:V1093I	V	-	1	0	KDR	55650642	1.000000	0.71417	0.998000	0.56505	0.597000	0.36814	4.072000	0.57563	2.735000	0.93741	0.563000	0.77884	GTT		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
BMP2K	55589	broad.mit.edu	37	4	79772148	79772148	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:79772148G>A	ENST00000335016.5	+	7	987	c.821G>A	c.(820-822)tGt>tAt	p.C274Y	BMP2K_ENST00000502871.1_Missense_Mutation_p.C274Y	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTTGCTATCTGTGATGGCAAC	0.363																																						uc003hlk.2																			0				lung(1)	1						c.(820-822)TGT>TAT		BMP-2 inducible kinase isoform a							127.0	111.0	116.0					4																	79772148		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79772148G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.821G>A	4.37:g.79772148G>A	ENSP00000334836:p.Cys274Tyr					BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.C274Y	p.C274Y	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			7	987	+			274			Protein kinase.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.821G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982229	0.93044	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.19669	2.13;2.13	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	N	0.21545	0.675	0.80722	D	1	D;D	0.58970	0.984;0.966	D;P	0.63877	0.919;0.884	T	0.08785	-1.0705	10	0.66056	D	0.02	-12.5522	19.2209	0.93796	0.0:0.0:1.0:0.0	.	274;274	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	Y	274	ENSP00000421768:C274Y;ENSP00000334836:C274Y	ENSP00000264889:C274Y	C	+	2	0	BMP2K	79991172	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.712000	0.98738	2.625000	0.88918	0.650000	0.86243	TGT		0.363	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
ENPEP	2028	broad.mit.edu	37	4	111397732	111397732	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:111397732G>A	ENST00000265162.5	+	1	504	c.162G>A	c.(160-162)gcG>gcA	p.A54A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	54					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A54A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CGGGCACTGCGCCAGCTCCTT	0.647																																						uc003iab.3																			1	Substitution - coding silent(1)		endometrium(1)	skin(3)|ovary(1)|breast(1)	5						c.(160-162)GCG>GCA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						115.0	114.0	114.0					4																	111397732		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397732G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.162G>A	4.37:g.111397732G>A							p.A54A	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	504	+		Hepatocellular(203;0.217)	54			Extracellular (Potential).		Q504U2	Silent	SNP	ENST00000265162.5	37	c.162G>A	CCDS3691.1																																																																																				0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
C4orf46	201725	broad.mit.edu	37	4	159590866	159590866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:159590866C>T	ENST00000379205.4	-	2	485	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	ETFDH_ENST00000511912.1_5'Flank|ETFDH_ENST00000307738.5_5'Flank|C4orf46_ENST00000508457.1_3'UTR|C4orf46_ENST00000508836.1_5'UTR	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	81										kidney(1)|lung(3)|skin(1)	5						AGTTCTTCCACTTGAGCTGAT	0.363																																						uc003iqa.2																			0				skin(1)	1						c.(241-243)GTG>ATG		hypothetical protein LOC201725							66.0	64.0	65.0					4																	159590866		2203	4300	6503	SO:0001583	missense	201725							g.chr4:159590866C>T		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.241G>A	4.37:g.159590866C>T	ENSP00000368503:p.Val81Met					C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	p.V81M	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN			2	490	-			81					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.241G>A	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154242	0.57259	.	.	ENSG00000205208	ENST00000379205	.	.	.	5.2	4.36	0.52297	.	0.000000	0.37955	N	0.001879	T	0.51312	0.1667	N	0.24115	0.695	0.80722	D	1	P	0.35383	0.498	B	0.42555	0.391	T	0.57653	-0.7774	9	0.72032	D	0.01	.	14.8847	0.70557	0.0:0.8555:0.1445:0.0	.	81	Q504U0	CD046_HUMAN	M	81	.	ENSP00000368503:V81M	V	-	1	0	C4orf46	159810316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.167000	0.50793	1.327000	0.45338	0.552000	0.68991	GTG		0.363	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393	
HCN1	348980	broad.mit.edu	37	5	45695840	45695840	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:45695840G>A	ENST00000303230.4	-	1	413	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	119	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTTCCACCGCCTTCTGGCT	0.602																																						uc003jok.2																			0				ovary(1)	1						c.(355-357)GCG>GTG		hyperpolarization activated cyclic							36.0	38.0	38.0					5																	45695840		2199	4291	6490	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695840G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.356C>T	5.37:g.45695840G>A	ENSP00000307342:p.Ala119Val						p.A119V	NM_021072	NP_066550	O60741	HCN1_HUMAN			1	381	-			119			Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.356C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939172	0.52972	.	.	ENSG00000164588	ENST00000303230	D	0.82803	-1.65	4.18	4.18	0.49190	Ion transport N-terminal (1);	0.279964	0.22597	N	0.058018	D	0.88618	0.6485	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.89276	0.3608	10	0.87932	D	0	.	11.323	0.49433	0.0923:0.0:0.9077:0.0	.	119	O60741	HCN1_HUMAN	V	119	ENSP00000307342:A119V	ENSP00000307342:A119V	A	-	2	0	HCN1	45731597	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	9.065000	0.93941	2.137000	0.66172	0.555000	0.69702	GCG		0.602	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
TMEM161B	153396	broad.mit.edu	37	5	87516531	87516531	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:87516531G>C	ENST00000296595.6	-	5	419	c.295C>G	c.(295-297)Cat>Gat	p.H99D	TMEM161B_ENST00000509387.1_5'UTR|TMEM161B_ENST00000511218.1_5'Flank|TMEM161B_ENST00000514135.1_Missense_Mutation_p.H99D|TMEM161B_ENST00000512429.1_Missense_Mutation_p.H88D|TMEM161B_ENST00000506536.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	99						integral component of membrane (GO:0016021)		p.H99Y(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGAAAGTAATGCAATGCTGGa	0.299																																						uc003kjc.2																			1	Substitution - Missense(1)		endometrium(1)	skin(2)	2						c.(295-297)CAT>GAT		transmembrane protein 161B							38.0	42.0	41.0					5																	87516531		2198	4294	6492	SO:0001583	missense	153396					integral to membrane		g.chr5:87516531G>C	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.295C>G	5.37:g.87516531G>C	ENSP00000296595:p.His99Asp					TMEM161B_uc011cty.1_Missense_Mutation_p.H88D|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_5'UTR|TMEM161B_uc011ctx.1_5'UTR	p.H99D	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	5	420	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	99					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.295C>G	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736262	0.69189	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.74328	-0.3701	9	0.56958	D	0.05	-6.7998	19.6155	0.95632	0.0:0.0:1.0:0.0	.	99	Q8NDZ6	T161B_HUMAN	D	99;99;88;99	.	ENSP00000296595:H99D	H	-	1	0	TMEM161B	87552287	1.000000	0.71417	0.987000	0.45799	0.454000	0.32378	7.635000	0.83286	2.712000	0.92718	0.585000	0.79938	CAT		0.299	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354	
BRD8	10902	broad.mit.edu	37	5	137485483	137485483	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:137485483C>T	ENST00000254900.5	-	23	3495	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1042					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGAGCCTCCCCCTAGGAA	0.458																																						uc003lcf.1																			0				ovary(1)	1						c.(3124-3126)GAG>AAG		bromodomain containing 8 isoform 2							123.0	109.0	114.0					5																	137485483		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137485483C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3124G>A	5.37:g.137485483C>T	ENSP00000254900:p.Glu1042Lys					BRD8_uc003lcc.1_Intron	p.E1042K	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		23	3179	-			1042					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3124G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.538638	0.00942	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.27402	1.94;1.67	4.84	1.03	0.20045	.	0.925692	0.08964	N	0.868328	T	0.15305	0.0369	N	0.24115	0.695	0.19575	N	0.999965	B	0.28933	0.228	B	0.27887	0.084	T	0.28933	-1.0028	10	0.06625	T	0.88	.	4.3611	0.11203	0.0:0.4861:0.1586:0.3552	.	1042	Q9H0E9	BRD8_HUMAN	K	1042;148	ENSP00000254900:E1042K;ENSP00000392646:E148K	ENSP00000254900:E1042K	E	-	1	0	BRD8	137513382	0.000000	0.05858	0.245000	0.24217	0.099000	0.18886	0.063000	0.14410	-0.005000	0.14395	0.650000	0.86243	GAG		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
PCDHB14	56122	broad.mit.edu	37	5	140605384	140605384	+	Silent	SNP	G	G	A	rs147177582		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:140605384G>A	ENST00000239449.4	+	1	2307	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P	PCDHB14_ENST00000515856.2_Silent_p.P616P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	769					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGAAGCCGATTATCCCCA	0.448																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			0				ovary(1)	1						c.(2305-2307)CCG>CCA		protocadherin beta 14 precursor		G		1,4405		0,1,2202	82.0	94.0	90.0		2307	-8.0	0.0	5	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	PCDHB14	NM_018934.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		769/799	140605384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605384G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2307G>A	5.37:g.140605384G>A						PCDHB14_uc011dal.1_Silent_p.P616P	p.P769P	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2307	+			769			Cytoplasmic (Potential).		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.2307G>A	CCDS4256.1																																																																																				0.448	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
ARAP3	64411	broad.mit.edu	37	5	141035273	141035273	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:141035273G>A	ENST00000239440.4	-	31	4090	c.4025C>T	c.(4024-4026)gCc>gTc	p.A1342V	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.A1004V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A1173V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1342					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCTGACGGGCAAGGTCAGA	0.592																																						uc003llm.2																			0				breast(5)|ovary(1)|large_intestine(1)	7						c.(4024-4026)GCC>GTC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							94.0	86.0	89.0					5																	141035273		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035273G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4025C>T	5.37:g.141035273G>A	ENSP00000239440:p.Ala1342Val					ARAP3_uc003lll.2_Missense_Mutation_p.A293V|ARAP3_uc011dbe.1_Missense_Mutation_p.A1004V|ARAP3_uc003lln.2_Missense_Mutation_p.A1173V	p.A1342V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			31	4103	-			1342					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4025C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342469	0.81911	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.15487	2.42;3.12;2.97	5.66	4.79	0.61399	.	0.164724	0.56097	N	0.000039	T	0.22126	0.0533	L	0.27053	0.805	0.41343	D	0.987311	P;D;D	0.56521	0.885;0.975;0.976	B;P;P	0.54815	0.343;0.736;0.761	T	0.01753	-1.1281	10	0.42905	T	0.14	.	13.9909	0.64367	0.0734:0.0:0.9266:0.0	.	1004;1173;1342	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	1173;1342;1004	ENSP00000421826:A1173V;ENSP00000239440:A1342V;ENSP00000421468:A1004V	ENSP00000239440:A1342V	A	-	2	0	ARAP3	141015457	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.238000	0.78173	1.392000	0.46585	0.655000	0.94253	GCC		0.592	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
DCSTAMP	81501	broad.mit.edu	37	8	105361477	105361477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:105361477C>T	ENST00000297581.2	+	2	746	c.697C>T	c.(697-699)Cga>Tga	p.R233*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.R233*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	233					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CTTCATGAAGCGATTTTTGGG	0.498																																						uc003ylx.1																			0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(697-699)CGA>TGA		dendritic cell-specific transmembrane protein							100.0	93.0	95.0					8																	105361477		2203	4300	6503	SO:0001587	stop_gained	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361477C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.697C>T	8.37:g.105361477C>T	ENSP00000297581:p.Arg233*						p.R233*	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	746	+			233					B7ZVW2|E7ESG0|Q2M2D5	Nonsense_Mutation	SNP	ENST00000297581.2	37	c.697C>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.642193	0.96704	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	.	.	.	5.52	5.52	0.82312	.	0.206931	0.39909	N	0.001231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7347	13.4113	0.60944	0.2271:0.7729:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	TM7SF4	105430653	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	2.556000	0.45862	2.624000	0.88883	0.555000	0.69702	CGA		0.498	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
TG	7038	broad.mit.edu	37	8	134144071	134144071	+	Silent	SNP	G	G	A	rs376481950		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:134144071G>A	ENST00000220616.4	+	46	7918	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_ENST00000542445.1_Silent_p.A996A|TG_ENST00000377869.1_Silent_p.A2569A|TG_ENST00000519543.1_Silent_p.A759A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2626					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458																																						uc003ytw.2																			0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7876-7878)GCG>GCA		thyroglobulin precursor		G		2,4404	4.2+/-10.8	0,2,2201	70.0	69.0	70.0		7878	-6.3	0.6	8		70	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		2626/2769	134144071	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134144071G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7878G>A	8.37:g.134144071G>A						TG_uc010mdw.2_Silent_p.A1385A|TG_uc011ljb.1_Silent_p.A995A|TG_uc011ljc.1_Silent_p.A759A	p.A2626A	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	46	7919	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2626					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7878G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203856	0.09704	4.54E-4	1.16E-4	ENSG00000042832	ENST00000519178	.	.	.	5.32	-6.32	0.01995	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44406	-0.9330	4	.	.	.	.	1.2973	0.02072	0.3018:0.1032:0.1582:0.4368	.	.	.	.	R	1082	.	.	G	+	1	0	TG	134213253	0.000000	0.05858	0.608000	0.28969	0.491000	0.33493	-3.091000	0.00609	-0.610000	0.05716	-0.339000	0.08088	GGA		0.458	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
DNAI1	27019	broad.mit.edu	37	9	34489407	34489407	+	Missense_Mutation	SNP	T	T	A	rs376585656		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:34489407T>A	ENST00000242317.4	+	5	519	c.348T>A	c.(346-348)gaT>gaA	p.D116E	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	116					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAGACTCAGATGAAGGACGGC	0.527									Kartagener syndrome																													uc003zum.2																			0					0						c.(346-348)GAT>GAA		dynein, axonemal, intermediate chain 1		T	GLU/ASP	0,4406		0,0,2203	154.0	135.0	141.0		348	3.7	1.0	9		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAI1	NM_012144.2	45	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	possibly-damaging	116/700	34489407	1,13005	2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34489407T>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.348T>A	9.37:g.34489407T>A	ENSP00000242317:p.Asp116Glu						p.D116E	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	5	541	+	all_epithelial(49;0.244)		116					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.348T>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303802	0.81136	0.0	1.16E-4	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.27890	1.64;1.64	6.08	3.74	0.42951	.	0.109676	0.64402	D	0.000010	T	0.18800	0.0451	L	0.33485	1.01	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.04255	-1.0965	10	0.30078	T	0.28	.	7.6757	0.28484	0.0:0.1647:0.0:0.8353	.	116	Q9UI46	DNAI1_HUMAN	E	105;116;105	ENSP00000242317:D116E;ENSP00000395396:D105E	ENSP00000242317:D116E	D	+	3	2	DNAI1	34479407	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.730000	0.38125	0.543000	0.28864	0.533000	0.62120	GAT		0.527	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
ZNF462	58499	broad.mit.edu	37	9	109688130	109688130	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:109688130A>C	ENST00000277225.5	+	3	2226	c.1937A>C	c.(1936-1938)gAc>gCc	p.D646A	ZNF462_ENST00000457913.1_Missense_Mutation_p.D646A|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	646					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGAGACAGACAGCCACCCC	0.463																																						uc004bcz.2																			0				ovary(5)	5						c.(1936-1938)GAC>GCC		zinc finger protein 462							220.0	230.0	227.0					9																	109688130		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688130A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1937A>C	9.37:g.109688130A>C	ENSP00000277225:p.Asp646Ala					ZNF462_uc010mto.2_Missense_Mutation_p.D494A|ZNF462_uc004bda.2_Missense_Mutation_p.D494A	p.D646A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	2226	+			646					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1937A>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367366	0.41902	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08896	3.04;3.47	5.48	5.48	0.80851	.	0.239831	0.49305	D	0.000155	T	0.10937	0.0267	L	0.36672	1.1	0.80722	D	1	D;B	0.55605	0.972;0.141	P;B	0.47162	0.54;0.091	T	0.12066	-1.0562	9	.	.	.	.	14.431	0.67251	1.0:0.0:0.0:0.0	.	646;646	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	A	646	ENSP00000277225:D646A;ENSP00000414570:D646A	.	D	+	2	0	ZNF462	108727951	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.815000	0.91973	2.205000	0.71048	0.528000	0.53228	GAC		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
MTMR8	55613	broad.mit.edu	37	X	63569901	63569901	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chrX:63569901A>C	ENST00000374852.3	-	5	585	c.518T>G	c.(517-519)tTg>tGg	p.L173W	MTMR8_ENST00000453546.1_Missense_Mutation_p.L173W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	173	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACCGTTCCCAAGGTAACAGA	0.348																																						uc004dvs.2																			1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(517-519)TTG>TGG		myotubularin related protein 8							122.0	102.0	109.0					X																	63569901		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63569901A>C	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.518T>G	X.37:g.63569901A>C	ENSP00000363985:p.Leu173Trp					MTMR8_uc011mou.1_Missense_Mutation_p.L173W|MTMR8_uc004dvt.1_Missense_Mutation_p.L173W	p.L173W	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			5	586	-			173			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.518T>G	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	A	9.831	1.188376	0.21954	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.92805	-3.11;-3.11	2.96	1.63	0.23807	Myotubularin phosphatase domain (1);Myotubularin-related (1);	1.151490	0.06989	U	0.821191	D	0.92916	0.7746	L	0.39898	1.24	0.09310	N	1	D;D	0.64830	0.994;0.989	P;D	0.70227	0.868;0.968	T	0.82916	-0.0220	10	0.66056	D	0.02	.	6.176	0.20444	0.6919:0.0:0.0:0.308	.	173;173	B4DQL0;Q96EF0	.;MTMR8_HUMAN	W	173	ENSP00000394003:L173W;ENSP00000363985:L173W	ENSP00000363985:L173W	L	-	2	0	MTMR8	63486626	0.000000	0.05858	0.333000	0.25482	0.976000	0.68499	0.070000	0.14573	1.193000	0.43086	0.417000	0.27973	TTG		0.348	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
