#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
CELA3A	10136	broad.mit.edu	37	1	22333423	22333423	+	Missense_Mutation	SNP	G	G	A	rs533686702		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:22333423G>A	ENST00000290122.3	+	5	434	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.V139I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGAGATGCCGTCCAGCTCGC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17525	0.0		0.0	False		,,,				2504	0.0					uc001bfl.3																			1	Substitution - Missense(1)	p.V139I(1)	large_intestine(1)	breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(415-417)Gtc>Atc		Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.							119.0	104.0	109.0					1																	22333423		2199	4300	6499	SO:0001583	missense	10136				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22333423G>A	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.415G>A	1.37:g.22333423G>A	ENSP00000290122:p.Val139Ile						p.V139I	NM_005747	NP_005738	P08861	CEL3B_HUMAN			4	434	+			139			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.415G>A	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723327	0.15439	.	.	ENSG00000142789	ENST00000290122;ENST00000374661	D	0.90844	-2.74	3.83	3.83	0.44106	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.88862	0.6552	N	0.13299	0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84607	0.0676	9	0.11182	T	0.66	-73.4051	13.3543	0.60619	0.0:0.0:1.0:0.0	.	139	P09093	CEL3A_HUMAN	I	139;155	ENSP00000290122:V139I	ENSP00000290122:V139I	V	+	1	0	CELA3A	22206010	1.000000	0.71417	0.775000	0.31657	0.129000	0.20672	3.026000	0.49689	1.958000	0.56883	0.400000	0.26472	GTC		0.627	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747	
EPB41	2035	broad.mit.edu	37	1	29344851	29344851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:29344851G>A	ENST00000343067.4	+	7	1148	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EPB41_ENST00000349460.4_Missense_Mutation_p.D132N|EPB41_ENST00000373798.1_Missense_Mutation_p.D341N|EPB41_ENST00000347529.3_Missense_Mutation_p.D306N|EPB41_ENST00000373797.1_Missense_Mutation_p.D341N|EPB41_ENST00000373800.3_Missense_Mutation_p.D132N|EPB41_ENST00000398863.2_Missense_Mutation_p.D341N|EPB41_ENST00000356093.2_Missense_Mutation_p.D341N	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	341	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GGGAGACTACGACCCAGAACT	0.468																																						uc001brm.2																			0		p.V340V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1021-1023)Gac>Aac		Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.							147.0	132.0	137.0					1																	29344851		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29344851G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1021G>A	1.37:g.29344851G>A	ENSP00000345259:p.Asp341Asn					EPB41_uc001brg.2_Missense_Mutation_p.D132N|EPB41_uc001brh.2_Missense_Mutation_p.D132N|EPB41_uc001brj.2_Missense_Mutation_p.D132N|EPB41_uc001bri.2_Missense_Mutation_p.D306N|EPB41_uc009vtk.2_Missense_Mutation_p.D306N|EPB41_uc001brk.3_Missense_Mutation_p.D341N|EPB41_uc001brl.2_Missense_Mutation_p.D341N|EPB41_uc021okg.1_Missense_Mutation_p.D341N|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.D132N	p.D341N	NM_001166005	NP_001159477	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	6	1148	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	341			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1021G>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775696	0.96922	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.51	5.51	0.81932	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.044729	0.85682	D	0.000000	D	0.84683	0.5526	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.985;0.999;0.998;0.997;0.999;0.997;0.992;0.999;0.997	P;D;P;D;D;D;D;D;D	0.72982	0.832;0.949;0.861;0.915;0.915;0.949;0.957;0.979;0.915	D	0.86268	0.1659	10	0.87932	D	0	.	18.4244	0.90604	0.0:0.0:1.0:0.0	.	341;341;341;341;341;358;306;132;132	E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	N	358;341;341;341;235;341;132;132;306;341;341	ENSP00000345259:D341N;ENSP00000348397:D341N;ENSP00000381839:D341N;ENSP00000317597:D132N;ENSP00000362906:D132N;ENSP00000290100:D306N;ENSP00000362904:D341N;ENSP00000362903:D341N	ENSP00000345259:D341N	D	+	1	0	EPB41	29217438	1.000000	0.71417	0.976000	0.42696	0.970000	0.65996	9.869000	0.99810	2.606000	0.88127	0.650000	0.86243	GAC		0.468	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
AGO3	192669	broad.mit.edu	37	1	36505436	36505436	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:36505436G>A	ENST00000373191.4	+	15	2237	c.1888G>A	c.(1888-1890)Gta>Ata	p.V630I	AGO3_ENST00000246314.6_Missense_Mutation_p.V396I	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	630	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CTGTGCCACAGTAAGAGTTCA	0.383																																						uc001bzp.3																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33						c.(1888-1890)Gta>Ata		Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.							107.0	99.0	102.0					1																	36505436		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36505436G>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1888G>A	1.37:g.36505436G>A	ENSP00000362287:p.Val630Ile					EIF2C3_uc001bzq.3_Missense_Mutation_p.V396I	p.V630I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			14	2233	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	630			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.1888G>A	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594754	0.96602	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.31769	1.48;1.48	6.16	6.16	0.99307	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.58969	1.84	0.80722	D	1	P	0.41313	0.745	P	0.61477	0.889	T	0.38067	-0.9678	10	0.51188	T	0.08	-50.9661	20.8598	0.99761	0.0:0.0:1.0:0.0	.	630	Q9H9G7	AGO3_HUMAN	I	630;396	ENSP00000362287:V630I;ENSP00000246314:V396I	ENSP00000246314:V396I	V	+	1	0	EIF2C3	36278023	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTA		0.383	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
EPHA10	284656	broad.mit.edu	37	1	38197175	38197175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:38197175C>T	ENST00000373048.4	-	7	1570	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.R19H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R524H|EPHA10_ENST00000330210.7_Missense_Mutation_p.R19H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	524	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACGTAGCGGGTAGCCGG	0.592																																						uc009vvi.3																			0		p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1570-1572)cGc>cAc		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							102.0	104.0	103.0					1																	38197175		1915	4123	6038	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197175C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1571G>A	1.37:g.38197175C>T	ENSP00000362139:p.Arg524His					EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	p.R524H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			6	1657	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	524			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1571G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725837	0.48833	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.77098	-1.07;0.4;-1.07;0.4	4.77	3.78	0.43462	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001308	T	0.73458	0.3589	N	0.25485	0.75	0.21473	N	0.999679	D	0.69078	0.997	P	0.56088	0.791	T	0.63355	-0.6656	9	.	.	.	.	9.8966	0.41322	0.3428:0.6572:0.0:0.0	.	524	Q5JZY3	EPHAA_HUMAN	H	19;524;19;524	ENSP00000330379:R19H;ENSP00000397746:R524H;ENSP00000441822:R19H;ENSP00000362139:R524H	.	R	-	2	0	EPHA10	37969762	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.183000	0.42565	2.459000	0.83118	0.563000	0.77884	CGC		0.592	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
GBP1	2633	broad.mit.edu	37	1	89525904	89525904	+	Silent	SNP	G	G	A	rs376417084	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:89525904G>A	ENST00000370473.4	-	3	513	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	98	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGACCCTCGGTGTCCAGCA	0.507													.|||	5	0.000998403	0.0	0.0	5008	,	,		17265	0.005		0.0	False		,,,				2504	0.0					uc001dmx.2																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(292-294)acC>acT		Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	126.0	127.0	127.0		294	-8.9	1.0	1		127	0,8600		0,0,4300	no	coding-synonymous	GBP1	NM_002053.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		98/593	89525904	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89525904G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.294C>T	1.37:g.89525904G>A							p.T98T	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	514	-		Lung NSC(277;0.123)	98					D3DT26|Q5T8M1	Silent	SNP	ENST00000370473.4	37	c.294C>T	CCDS718.1																																																																																				0.507	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
TXNIP	10628	broad.mit.edu	37	1	145440909	145440909	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:145440909C>T	ENST00000369317.4	+	7	1330	c.996C>T	c.(994-996)ccC>ccT	p.P332P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	332					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCTCCTCCCTGCTATATGG	0.443																																						uc001enn.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(994-996)ccC>ccT		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							133.0	134.0	134.0					1																	145440909		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440909C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.996C>T	1.37:g.145440909C>T						TXNIP_uc010oys.2_Silent_p.P277P	p.P332P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			6	1337	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		332					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.996C>T	CCDS913.1																																																																																				0.443	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
FLG	2312	broad.mit.edu	37	1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:152278855C>T	ENST00000368799.1	-	3	8542	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2836	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8506-8508)aGt>aAt		Homo sapiens filaggrin (FLG), mRNA.							268.0	401.0	356.0					1																	152278855		2167	4299	6466	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278855C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8507G>A	1.37:g.152278855C>T	ENSP00000357789:p.Ser2836Asn						p.S2836N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2836			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8507G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786366	0.16189	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03745	3.82	1.87	-0.193	0.13244	.	.	.	.	.	T	0.01189	0.0039	M	0.76838	2.35	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.45293	-0.9271	9	0.27785	T	0.31	-0.3021	3.458	0.07523	0.2109:0.3779:0.4112:0.0	.	2836	P20930	FILA_HUMAN	N	2836;98	ENSP00000357789:S2836N	ENSP00000357786:S98N	S	-	2	0	FLG	150545479	.	.	0.000000	0.03702	0.031000	0.12232	.	.	-0.040000	0.13580	0.306000	0.20318	AGT		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PRRG4	79056	broad.mit.edu	37	11	32875008	32875008	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:32875008C>T	ENST00000257836.3	+	6	869	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	206	Poly-Pro.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ACCACCACCACCATATCCTGG	0.438																																						uc001mtx.3																			0				large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.(616-618)Cca>Tca		Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.							124.0	123.0	123.0					11																	32875008		2202	4299	6501	SO:0001583	missense	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32875008C>T	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.616C>T	11.37:g.32875008C>T	ENSP00000257836:p.Pro206Ser						p.P206S	NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN			5	877	+	Breast(20;0.206)		206			Poly-Pro.			Missense_Mutation	SNP	ENST00000257836.3	37	c.616C>T	CCDS7881.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417958	0.42918	.	.	ENSG00000135378	ENST00000257836	D	0.98400	-4.91	5.55	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.82823	2.61	0.50039	D	0.999842	P	0.40794	0.729	B	0.33392	0.163	D	0.95255	0.8363	10	0.23891	T	0.37	-7.3942	11.7337	0.51752	0.0:0.9165:0.0:0.0835	.	206	Q9BZD6	TMG4_HUMAN	S	206	ENSP00000257836:P206S	ENSP00000257836:P206S	P	+	1	0	PRRG4	32831584	0.998000	0.40836	0.585000	0.28666	0.005000	0.04900	2.208000	0.42797	1.348000	0.45733	0.544000	0.68410	CCA		0.438	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081	
TRIM49	57093	broad.mit.edu	37	11	89531694	89531694	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:89531694G>A	ENST00000329758.1	-	8	1291	c.963C>T	c.(961-963)ttC>ttT	p.F321F	TRIM49_ENST00000532501.2_Silent_p.F244F	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGTTGCAGTGAAATAGGGTA	0.418																																						uc001pdb.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(961-963)ttC>ttT		Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.							13.0	18.0	16.0					11																	89531694		2100	4251	6351	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531694G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.963C>T	11.37:g.89531694G>A							p.F321F	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			7	1292	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	321			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.963C>T	CCDS8287.1																																																																																				0.418	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	
ENO2	2026	broad.mit.edu	37	12	7026819	7026819	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:7026819C>G	ENST00000535366.1	+	5	1011	c.385C>G	c.(385-387)Ccc>Gcc	p.P129A	ENO2_ENST00000538763.1_Missense_Mutation_p.P86A|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000229277.1_Missense_Mutation_p.P129A|ENO2_ENST00000541477.1_Missense_Mutation_p.P129A|ENO2_ENST00000544774.1_Missense_Mutation_p.P86A			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	129					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGAACTGCCCCTGTATCG	0.617																																						uc001qru.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(385-387)Ccc>Gcc		Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.							79.0	66.0	70.0					12																	7026819		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7026819C>G	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.385C>G	12.37:g.7026819C>G	ENSP00000437402:p.Pro129Ala					ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	p.P129A	NM_001975	NP_001966	P09104	ENOG_HUMAN			5	607	+			129					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.385C>G	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.043590	0.75732	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.79	4.79	0.61399	Enolase, N-terminal (1);	0.104232	0.64402	D	0.000002	T	0.75961	0.3921	H	0.99454	4.575	0.80722	D	1	P;P	0.44281	0.831;0.612	P;B	0.58172	0.834;0.442	D	0.86888	0.2046	10	0.87932	D	0	-18.1046	18.2686	0.90060	0.0:1.0:0.0:0.0	.	86;129	B7Z2X9;P09104	.;ENOG_HUMAN	A	129;129;86;86;129	ENSP00000438873:P129A;ENSP00000229277:P129A;ENSP00000441490:P86A;ENSP00000446195:P86A;ENSP00000437402:P129A	ENSP00000229277:P129A	P	+	1	0	ENO2	6897080	1.000000	0.71417	0.956000	0.39512	0.825000	0.46686	6.047000	0.71038	2.389000	0.81357	0.550000	0.68814	CCC		0.617	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1		
KMT2D	8085	broad.mit.edu	37	12	49448322	49448322	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:49448322C>T	ENST00000301067.7	-	3	388	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	130					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCAGGTTCTCCTAGGTGGGC	0.557																																						uc001rta.4										"""N, F, Mis"""							"""medulloblastoma, renal"""		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(388-390)gGa>gAa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.							18.0	20.0	19.0					12																	49448322		1935	4150	6085	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49448322C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.389G>A	12.37:g.49448322C>T	ENSP00000301067:p.Gly130Glu	HNSCC(34;0.089)					p.G130E	NM_003482	NP_003473	O14686	MLL2_HUMAN			2	389	-			130					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.389G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888835	0.33348	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	T	0.78924	-1.22	4.9	4.9	0.64082	.	.	.	.	.	T	0.71459	0.3342	N	0.08118	0	0.27734	N	0.944708	D	0.59357	0.985	P	0.55055	0.767	T	0.66968	-0.5789	9	0.87932	D	0	.	12.0514	0.53509	0.1726:0.8274:0.0:0.0	.	130	O14686	MLL2_HUMAN	E	130	ENSP00000301067:G130E	ENSP00000301067:G130E	G	-	2	0	MLL2	47734589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.955000	0.40372	2.247000	0.74100	0.557000	0.71058	GGA		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
LRRIQ1	84125	broad.mit.edu	37	12	85492269	85492269	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85492269C>T	ENST00000393217.2	+	12	3085	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1008										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGTAGAGGGCGTTGAAAATT	0.343																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3022-3024)ggC>ggT		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							104.0	104.0	104.0					12																	85492269		2203	4297	6500	SO:0001819	synonymous_variant	84125							g.chr12:85492269C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3024C>T	12.37:g.85492269C>T						LRRIQ1_uc021rbo.1_Silent_p.G886G	p.G1008G	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	3135	+			1008					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.3024C>T	CCDS41816.1																																																																																				0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85546073	85546073	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85546073delG	ENST00000393217.2	+	20	4406	c.4345delG	c.(4345-4347)gaafs	p.E1449fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1449										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTAGAAGAAGAATGGCTAGC	0.353																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4345-4347)gaafs		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							124.0	116.0	119.0					12																	85546073		1855	4090	5945	SO:0001589	frameshift_variant	84125							g.chr12:85546073delG	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4345delG	12.37:g.85546073delG	ENSP00000376910:p.Glu1449fs						p.E1449fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	19	4456	+			1449					Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	c.4345delG	CCDS41816.1																																																																																				0.353	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
HCAR1	27198	broad.mit.edu	37	12	123214178	123214178	+	Missense_Mutation	SNP	C	C	T	rs371072988		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:123214178C>T	ENST00000436083.2	-	1	1212	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	HCAR1_ENST00000356987.2_Missense_Mutation_p.V237M|HCAR1_ENST00000432564.1_Missense_Mutation_p.V237M			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	237					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CTAGCAGACACGCTGGGCAGG	0.582																																						uc001ucz.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(709-711)Gtg>Atg		Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	69.0	64.0	66.0		709	5.3	1.0	12		66	2,8598	2.2+/-6.3	0,2,4298	no	missense	HCAR1	NM_032554.3	21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	237/347	123214178	3,13003	2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214178C>T	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.709G>A	12.37:g.123214178C>T	ENSP00000409980:p.Val237Met					HCAR1_uc001ucw.1_Non-coding_Transcript	p.V237M	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN			0	952	-			237					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.709G>A	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107256	0.56291	2.27E-4	2.33E-4	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.38077	1.16;1.16;1.16	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.439796	0.22609	N	0.057852	T	0.55497	0.1924	M	0.76574	2.34	0.34966	D	0.752703	D	0.89917	1.0	D	0.70016	0.967	T	0.64466	-0.6401	10	0.33940	T	0.23	-11.6254	10.0403	0.42153	0.0:0.9082:0.0:0.0918	.	237	Q9BXC0	HCAR1_HUMAN	M	237	ENSP00000349478:V237M;ENSP00000389255:V237M;ENSP00000409980:V237M	ENSP00000349478:V237M	V	-	1	0	HCAR1	121780131	0.527000	0.26306	0.984000	0.44739	0.606000	0.37113	2.350000	0.44063	2.474000	0.83562	0.655000	0.94253	GTG		0.582	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1		
ZNF10	7556	broad.mit.edu	37	12	133732279	133732279	+	Silent	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732279A>G	ENST00000248211.6	+	5	669	c.447A>G	c.(445-447)caA>caG	p.Q149Q	ZNF10_ENST00000426665.2_Silent_p.Q149Q|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	149				Missing (in Ref. 1). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTTGAGGCAAGTGGCATTCA	0.428																																						uc009zzb.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(445-447)caA>caG		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							109.0	105.0	107.0					12																	133732279		2203	4300	6503	SO:0001819	synonymous_variant	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732279A>G	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.447A>G	12.37:g.133732279A>G						ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.Q149Q	p.Q149Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	894	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	149	Missing (in Ref. 1).				B2RBS1|Q8TC91	Silent	SNP	ENST00000248211.6	37	c.447A>G	CCDS9283.1																																																																																				0.428	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
ZNF10	7556	broad.mit.edu	37	12	133732444	133732444	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732444T>A	ENST00000248211.6	+	5	834	c.612T>A	c.(610-612)caT>caA	p.H204Q	ZNF10_ENST00000426665.2_Missense_Mutation_p.H204Q|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	204				Missing (in Ref. 1). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTAATGGTCATCAGGACAGTT	0.363																																						uc009zzb.3																			0		p.G203G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(610-612)caT>caA		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							125.0	118.0	120.0					12																	133732444		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732444T>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.612T>A	12.37:g.133732444T>A	ENSP00000248211:p.His204Gln					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.H204Q	p.H204Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1059	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	204	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.612T>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635573	0.47049	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.04758	3.56;3.56;4.59	4.22	1.91	0.25777	.	0.000000	0.37053	N	0.002277	T	0.03651	0.0104	L	0.41492	1.28	0.80722	D	1	B	0.30281	0.275	B	0.29524	0.103	T	0.49476	-0.8936	9	.	.	.	.	3.7576	0.08592	0.1647:0.1927:0.0:0.6426	.	204	P21506	ZNF10_HUMAN	Q	204;204;162	ENSP00000248211:H204Q;ENSP00000393814:H204Q;ENSP00000437397:H162Q	.	H	+	3	2	ZNF10	132242517	0.998000	0.40836	0.995000	0.50966	0.942000	0.58702	1.245000	0.32790	0.777000	0.33496	0.533000	0.62120	CAT		0.363	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
ZNF10	7556	broad.mit.edu	37	12	133732460	133732460	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732460A>G	ENST00000248211.6	+	5	850	c.628A>G	c.(628-630)Agt>Ggt	p.S210G	ZNF10_ENST00000426665.2_Missense_Mutation_p.S210G|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	210				Missing (in Ref. 1). {ECO:0000305}.	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)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGTTGTGCAAGTAACAGTAA	0.358																																						uc009zzb.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(628-630)Agt>Ggt		Homo sapiens zinc finger protein 10 (ZNF10), mRNA.							134.0	124.0	127.0					12																	133732460		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732460A>G	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.628A>G	12.37:g.133732460A>G	ENSP00000248211:p.Ser210Gly					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.S210G	p.S210G	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	4	1075	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	210	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.628A>G	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	3.959	-0.010784	0.07727	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000537119	T;T;T	0.05081	3.5;3.5;4.79	4.22	0.277	0.15668	Zinc finger, C2H2 (1);	0.948148	0.08665	N	0.911772	T	0.01730	0.0055	N	0.00754	-1.215	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48258	-0.9051	9	.	.	.	.	4.1054	0.10035	0.4755:0.0:0.3668:0.1576	.	210	P21506	ZNF10_HUMAN	G	210;210;168	ENSP00000248211:S210G;ENSP00000393814:S210G;ENSP00000437397:S168G	.	S	+	1	0	ZNF10	132242533	0.000000	0.05858	0.002000	0.10522	0.832000	0.47134	0.079000	0.14782	0.185000	0.20105	0.533000	0.62120	AGT		0.358	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
POTEG	404785	broad.mit.edu	37	14	19553826	19553826	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19553826G>A	ENST00000409832.3	+	1	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	137										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGTCCGTCGAGAAGATCTG	0.577																																						uc001vuz.1																			0		p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(409-411)cGa>cAa		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							65.0	71.0	69.0					14																	19553826		1618	3388	5006	SO:0001583	missense	404785							g.chr14:19553826G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.410G>A	14.37:g.19553826G>A	ENSP00000386971:p.Arg137Gln					POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	p.R137Q	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			0	462	+			137					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.410G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.677	0.309483	0.10733	.	.	ENSG00000222036	ENST00000409832	T	0.52983	0.64	1.31	0.0956	0.14486	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.27454	0.0674	L	0.34521	1.04	0.09310	N	1	B	0.21905	0.062	B	0.09377	0.004	T	0.20438	-1.0275	9	0.13470	T	0.59	.	3.0801	0.06259	0.7125:0.0:0.2875:0.0	.	137	Q6S5H5	POTEG_HUMAN	Q	137	ENSP00000386971:R137Q	ENSP00000386971:R137Q	R	+	2	0	POTEG	18623826	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.641000	0.24720	0.009000	0.14813	0.174000	0.16983	CGA		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
POTEG	404785	broad.mit.edu	37	14	19566060	19566060	+	Silent	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19566060C>G	ENST00000409832.3	+	6	1156	c.1104C>G	c.(1102-1104)gtC>gtG	p.V368V	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	368										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTAAAAGTCTCTTCTGAAA	0.323																																						uc001vuz.1																			0		p.V368F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1102-1104)gtC>gtG		Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.							82.0	96.0	91.0					14																	19566060		1508	2699	4207	SO:0001819	synonymous_variant	404785							g.chr14:19566060C>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1104C>G	14.37:g.19566060C>G						POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	p.V368V	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1156	+			368					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.1104C>G	CCDS32018.1																																																																																				0.323	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
ADCY4	196883	broad.mit.edu	37	14	24801072	24801072	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:24801072G>A	ENST00000310677.4	-	5	704	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ADCY4_ENST00000554068.2_Silent_p.R197R|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.R197R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	197					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCCGCAGGGCGCGCTCCATCA	0.667																																						uc001wow.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(589-591)cgC>cgT		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							27.0	28.0	27.0					14																	24801072		2201	4300	6501	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24801072G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.591C>T	14.37:g.24801072G>A						ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.R197R|ADCY4_uc001woy.3_Silent_p.R197R	p.R197R	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	3	1010	-			197					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.591C>T	CCDS9627.1																																																																																				0.667	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
SYT16	83851	broad.mit.edu	37	14	62547865	62547865	+	Missense_Mutation	SNP	G	G	A	rs368814141		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:62547865G>A	ENST00000430451.2	+	4	1504	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	436	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.R416H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTCCGCTTCCGCCTGTACGCT	0.562																																						uc001xfu.1																			1	Substitution - Missense(1)	p.R416H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1306-1308)cGc>cAc		Homo sapiens synaptotagmin XVI (SYT16), mRNA.		G	HIS/ARG	0,4356		0,0,2178	31.0	35.0	34.0		1307	5.0	1.0	14		34	1,8579		0,1,4289	no	missense	SYT16	NM_031914.2	29	0,1,6467	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	436/646	62547865	1,12935	2178	4290	6468	SO:0001583	missense	83851							g.chr14:62547865G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1307G>A	14.37:g.62547865G>A	ENSP00000394700:p.Arg436His					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.R436H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1504	+			436			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1307G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238157	0.95240	0.0	1.17E-4	ENSG00000139973	ENST00000430451	T	0.69175	-0.38	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81512	-0.0899	10	0.62326	D	0.03	-31.7789	18.7783	0.91920	0.0:0.0:1.0:0.0	.	436	Q17RD7	SYT16_HUMAN	H	436	ENSP00000394700:R436H	ENSP00000394700:R436H	R	+	2	0	SYT16	61617618	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.601000	0.98297	2.731000	0.93534	0.650000	0.86243	CGC		0.562	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
C15orf48	84419	broad.mit.edu	37	15	45723253	45723253	+	Missense_Mutation	SNP	G	G	A	rs143173357		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:45723253G>A	ENST00000344300.3	+	2	281	c.91G>A	c.(91-93)Gct>Act	p.A31T	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.A31T|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	31						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A31P(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTCATCTTTCGCTGTGTATTC	0.413																																						uc001zvg.3																			1	Substitution - Missense(1)	p.A31P(2)	ovary(1)	large_intestine(1)|lung(2)|ovary(1)	4						c.(91-93)Gct>Act		Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.		G	THR/ALA,THR/ALA	0,4396		0,0,2198	191.0	180.0	184.0		91,91	4.7	0.2	15	dbSNP_134	184	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	C15orf48	NM_032413.2,NM_197955.1	58,58	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	31/84,31/84	45723253	1,12991	2198	4298	6496	SO:0001583	missense	84419					nucleus		g.chr15:45723253G>A		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"""normal mucosa of esophagus specific 1"""	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.91G>A	15.37:g.45723253G>A	ENSP00000341610:p.Ala31Thr					C15orf48_uc001zvh.3_Missense_Mutation_p.A31T|C15orf48_uc021skp.1_5'Flank	p.A31T	NM_197955	NP_922946	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	2	209	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	31						Missense_Mutation	SNP	ENST00000344300.3	37	c.91G>A	CCDS10124.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237959	0.79800	0.0	1.16E-4	ENSG00000166920	ENST00000396650;ENST00000344300	T;T	0.76578	-1.03;-1.03	5.69	4.71	0.59529	.	0.360238	0.29473	N	0.012058	T	0.65719	0.2718	.	.	.	0.09310	N	1	P	0.49090	0.919	B	0.41917	0.37	T	0.59032	-0.7530	9	0.25106	T	0.35	-28.5648	10.4461	0.44495	0.0:0.0:0.7227:0.2773	.	31	Q9C002	NMES1_HUMAN	T	31	ENSP00000379887:A31T;ENSP00000341610:A31T	ENSP00000341610:A31T	A	+	1	0	C15orf48	43510545	0.101000	0.21875	0.167000	0.22817	0.090000	0.18270	1.741000	0.38238	2.702000	0.92279	0.591000	0.81541	GCT		0.413	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413	
CCDC33	80125	broad.mit.edu	37	15	74564064	74564064	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74564064C>T	ENST00000398814.3	+	6	998	c.567C>T	c.(565-567)aaC>aaT	p.N189N	CCDC33_ENST00000321288.5_Silent_p.N392N	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	392										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGAGTCAACGAGCCCCTGG	0.592																																						uc002axo.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(565-567)aaC>aaT		Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.							41.0	44.0	43.0					15																	74564064		1987	4144	6131	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74564064C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.567C>T	15.37:g.74564064C>T						CCDC33_uc002axp.3_Silent_p.N11N	p.N189N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			5	961	+			392					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.567C>T	CCDS42058.1																																																																																				0.592	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791	
CCDC33	80125	broad.mit.edu	37	15	74573074	74573074	+	Missense_Mutation	SNP	C	C	T	rs201740638		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74573074C>T	ENST00000398814.3	+	9	1386	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCDC33_ENST00000321288.5_Missense_Mutation_p.R522C	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	522	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTAAAGAGCCGTTTGTACCA	0.612																																						uc002axo.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(955-957)Cgt>Tgt		Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.		T	CYS/ARG	0,3844		0,0,1922	85.0	93.0	91.0		955	4.5	0.0	15		91	3,8297		0,3,4147	yes	missense	CCDC33	NM_025055.3	180	0,3,6069	TT,TC,CC		0.0361,0.0,0.0247	probably-damaging	319/756	74573074	3,12141	1922	4150	6072	SO:0001583	missense	80125						protein binding	g.chr15:74573074C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.955C>T	15.37:g.74573074C>T	ENSP00000381795:p.Arg319Cys					CCDC33_uc002axp.3_Missense_Mutation_p.R141C	p.R319C	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			8	1349	+			522			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.955C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.563909	0.27915	0.0	3.61E-4	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.26067	1.76;2.09	5.42	4.51	0.55191	.	0.524779	0.18517	N	0.138888	T	0.41858	0.1177	L	0.60455	1.87	0.09310	N	1	D;D	0.89917	1.0;0.998	P;P	0.61722	0.893;0.855	T	0.22591	-1.0212	10	0.72032	D	0.01	.	10.3804	0.44108	0.0:0.9093:0.0:0.0907	.	522;319	C9JFX2;Q8N5R6-6	.;.	C	522;319	ENSP00000325012:R522C;ENSP00000381795:R319C	ENSP00000325012:R522C	R	+	1	0	CCDC33	72360127	0.008000	0.16893	0.001000	0.08648	0.007000	0.05969	1.801000	0.38843	1.294000	0.44707	-0.185000	0.12909	CGT		0.612	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791	
ITGAX	3687	broad.mit.edu	37	16	31374348	31374348	+	Silent	SNP	C	C	T	rs199963723	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													C|||	2	0.000399361	0.0	0.0014	5008	,	,		11492	0.0		0.0	False		,,,				2504	0.001					uc002ebt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1450-1452)taC>taT		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.		C		0,4394		0,0,2197	43.0	49.0	47.0		1452	-7.2	0.5	16		47	2,8592		0,2,4295	no	coding-synonymous	ITGAX	NM_000887.3		0,2,6492	TT,TC,CC		0.0233,0.0,0.0154		484/1164	31374348	2,12986	2197	4297	6494	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374348C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1452C>T	16.37:g.31374348C>T						ITGAX_uc002ebu.1_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	p.Y484Y	NM_000887	NP_000878	P20702	ITAX_HUMAN			12	1519	+			484					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1452C>T	CCDS10711.1																																																																																				0.677	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
MYLK3	91807	broad.mit.edu	37	16	46755087	46755087	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:46755087C>T	ENST00000394809.4	-	9	2048	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	MYLK3_ENST00000536476.1_Missense_Mutation_p.V304I	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.V724I(1)|p.V645I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCTGATTGACGCACAATATG	0.448																																						uc002eei.4																			2	Substitution - Missense(2)	p.V724I(1)|p.V645I(1)	large_intestine(2)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1933-1935)Gtc>Atc		Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.							125.0	124.0	125.0					16																	46755087		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46755087C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1933G>A	16.37:g.46755087C>T	ENSP00000378288:p.Val645Ile					MYLK3_uc010vge.2_Missense_Mutation_p.V304I	p.V645I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			8	2049	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	645			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1933G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699938	0.88924	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.39406	1.08;1.08	5.35	5.35	0.76521	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	0.32518	N	0.005993	T	0.43211	0.1237	L	0.31752	0.955	0.48830	D	0.999719	P	0.39282	0.666	P	0.44623	0.455	T	0.39941	-0.9589	10	0.62326	D	0.03	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	645	Q32MK0	MYLK3_HUMAN	I	645;304	ENSP00000378288:V645I;ENSP00000439297:V304I	ENSP00000378288:V645I	V	-	1	0	MYLK3	45312588	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.891000	0.56227	2.666000	0.90696	0.557000	0.71058	GTC		0.448	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	
SLC2A4	6517	broad.mit.edu	37	17	7187697	7187697	+	Splice_Site	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:7187697G>A	ENST00000317370.8	+	6	994	c.726G>A	c.(724-726)aaG>aaA	p.K242K	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Splice_Site_p.K242K|SLC2A4_ENST00000424875.2_Splice_Site_p.K232K	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	242					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGAAAGAGTAAGCTCT	0.632																																						uc002gfp.3																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.e6+1		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.							32.0	34.0	33.0					17																	7187697		2203	4300	6503	SO:0001630	splice_region_variant	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7187697G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.727+1G>A	17.37:g.7187697G>A						SLC2A4_uc010cmd.3_Splice_Site|SLC2A4_uc021tpa.1_Splice_Site_p.S233_splice	p.S243_splice	NM_001042	NP_001033	P14672	GTR4_HUMAN			6	927	+			243					Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	c.727_splice	CCDS11097.1																																																																																				0.632	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		Silent
MYOCD	93649	broad.mit.edu	37	17	12666835	12666835	+	Silent	SNP	G	G	A	rs149918258		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:12666835G>A	ENST00000343344.4	+	13	2691	c.2691G>A	c.(2689-2691)ccG>ccA	p.P897P	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Silent_p.P945P			Q8IZQ8	MYCD_HUMAN	myocardin	897					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCTCACTCCGCCAAATTCCA	0.512																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(2833-2835)ccG>ccA		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	64.0	58.0	60.0		2835,2691	-3.2	0.9	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_153604.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	945/987,897/939	12666835	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666835G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2691G>A	17.37:g.12666835G>A						MYOCD_uc002gnn.2_Silent_p.P897P|MYOCD_uc002gnq.2_Silent_p.P621P	p.P945P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	3134	+			897					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.2835G>A	CCDS11163.1																																																																																				0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
KCNJ12	3768	broad.mit.edu	37	17	21319341	21319341	+	Silent	SNP	C	C	T	rs569037483	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	229					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCATGTGCGCGCGCAGCTCA	0.642										Prostate(3;0.18)			.|||	4	0.000798722	0.0	0.0	5008	,	,		38914	0.004		0.0	False		,,,				2504	0.0					uc021tss.1																			2	Substitution - coding silent(2)	p.R229R(2)	breast(1)|endometrium(1)								c.(685-687)cgC>cgT		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.							87.0	70.0	76.0					17																	21319341		2203	4300	6503	SO:0001819	synonymous_variant	3768					integral to membrane	inward rectifier potassium channel activity	g.chr17:21319341C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.687C>T	17.37:g.21319341C>T						KCNJ18_uc002gyv.1_Silent_p.R229R|KCNJ18_uc021tst.1_Silent_p.R229R	p.R229R	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN			2	1057	+			229					O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.687C>T	CCDS11219.1																																																																																				0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
RHBDF2	79651	broad.mit.edu	37	17	74473065	74473065	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:74473065C>T	ENST00000313080.4	-	9	1322	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	RHBDF2_ENST00000591885.1_Missense_Mutation_p.G321D|RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000389760.4_Missense_Mutation_p.G321D	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	350					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GATGCGCTTGCCGCGCCGGGG	0.647																																						uc002jrq.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(1048-1050)gGc>gAc		Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.							37.0	51.0	46.0					17																	74473065		2201	4299	6500	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473065C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1049G>A	17.37:g.74473065C>T	ENSP00000322775:p.Gly350Asp					RHBDF2_uc021udh.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	p.G350D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			8	1343	-			350					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.1049G>A	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302836	0.95601	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.60672	0.17;0.17	5.54	5.54	0.83059	.	0.167982	0.52532	D	0.000066	T	0.77611	0.4156	M	0.73962	2.25	0.58432	D	0.999996	D;D;P;D	0.89917	1.0;1.0;0.884;0.998	D;D;B;D	0.83275	0.996;0.994;0.41;0.962	T	0.79614	-0.1730	10	0.87932	D	0	-38.8423	19.4819	0.95013	0.0:1.0:0.0:0.0	.	321;296;350;321	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	D	350;321;296	ENSP00000322775:G350D;ENSP00000374410:G321D	ENSP00000322775:G350D	G	-	2	0	RHBDF2	71984660	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	7.405000	0.80007	2.595000	0.87683	0.655000	0.94253	GGC		0.647	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599	
POLI	11201	broad.mit.edu	37	18	51809324	51809324	+	Missense_Mutation	SNP	G	G	A	rs146107490		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr18:51809324G>A	ENST00000579534.1	+	6	1057	c.914G>A	c.(913-915)cGt>cAt	p.R305H	POLI_ENST00000406285.3_Missense_Mutation_p.R226H|POLI_ENST00000217800.5_Missense_Mutation_p.R179H|POLI_ENST00000579434.1_Missense_Mutation_p.R202H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	305					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GTTGCTCAGCGTATCCAAAAG	0.393								DNA polymerases (catalytic subunits)																														uc002lfj.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(913-915)cGt>cAt	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	52.0	53.0		914	2.2	1.0	18	dbSNP_134	53	0,8598		0,0,4299	yes	missense	POLI	NM_007195.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	305/741	51809324	1,13003	2203	4299	6502	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51809324G>A		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.914G>A	18.37:g.51809324G>A	ENSP00000462664:p.Arg305His					POLI_uc010xds.2_Missense_Mutation_p.R226H|POLI_uc002lfk.4_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.3_5'UTR	p.R305H	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	5	982	+			305					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.914G>A	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229404	0.39399	2.27E-4	0.0	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.22945	1.93	5.96	2.25	0.28309	DNA polymerase, Y-family, little finger domain (1);	0.254100	0.38436	N	0.001681	T	0.27169	0.0666	M	0.77820	2.39	0.54753	D	0.999983	B;B	0.31459	0.324;0.263	B;B	0.28465	0.09;0.021	T	0.03335	-1.1047	10	0.38643	T	0.18	-4.9255	9.3384	0.38065	0.3562:0.0:0.6438:0.0	.	225;305	B7Z780;Q9UNA4	.;POLI_HUMAN	H	226;305	ENSP00000385196:R226H	ENSP00000217800:R305H	R	+	2	0	POLI	50063322	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	2.436000	0.44819	0.143000	0.18926	-0.140000	0.14226	CGT		0.393	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
ZNF77	58492	broad.mit.edu	37	19	2933838	2933838	+	Silent	SNP	C	C	T	rs201521069	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:2933838C>T	ENST00000314531.4	-	4	1379	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	429					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(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGTATGCGTCCTCACGT	0.512													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		24258	0.0		0.0	False		,,,				2504	0.0					uc002lws.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1285-1287)acG>acA		Homo sapiens zinc finger protein 77 (ZNF77), mRNA.							97.0	81.0	86.0					19																	2933838		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933838C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1287G>A	19.37:g.2933838C>T							p.T429T	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1418	-			429					Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.1287G>A	CCDS12099.1																																																																																				0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
TJP3	27134	broad.mit.edu	37	19	3735631	3735631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:3735631C>T	ENST00000541714.2	+	9	1516	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	TJP3_ENST00000382008.3_Missense_Mutation_p.R366W|TJP3_ENST00000589378.1_Missense_Mutation_p.R361W|TJP3_ENST00000587686.1_Missense_Mutation_p.R371W|TJP3_ENST00000539908.2_Missense_Mutation_p.R316W|TJP3_ENST00000262968.9_Missense_Mutation_p.R385W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	352					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGAGCAACGGTCAGGTGG	0.602																																						uc010xhv.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1153-1155)Cgg>Tgg		Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.							93.0	98.0	96.0					19																	3735631		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735631C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1054C>T	19.37:g.3735631C>T	ENSP00000439278:p.Arg352Trp					TJP3_uc010xhs.2_Missense_Mutation_p.R352W|TJP3_uc010xht.2_Missense_Mutation_p.R316W|TJP3_uc010xhu.2_Missense_Mutation_p.R361W|TJP3_uc010xhw.2_Missense_Mutation_p.R371W	p.R385W	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1153	+			366					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1153C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	9.114	1.007284	0.19199	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09350	2.99;3.16;3.01;3.11	3.07	-3.83	0.04269	.	1.080780	0.07078	N	0.836579	T	0.08670	0.0215	N	0.14661	0.345	0.09310	N	1	P;D;P;P	0.71674	0.955;0.998;0.925;0.923	B;P;B;B	0.54924	0.436;0.764;0.2;0.436	T	0.11179	-1.0598	10	0.62326	D	0.03	.	0.5567	0.00672	0.3871:0.2504:0.1275:0.235	.	371;385;366;352	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	W	352;316;366;385	ENSP00000439278:R352W;ENSP00000439991:R316W;ENSP00000371438:R366W;ENSP00000262968:R385W	ENSP00000262968:R385W	R	+	1	2	TJP3	3686631	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.268000	0.00533	-0.754000	0.04715	-0.535000	0.04281	CGG		0.602	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1		
SH2D3A	10045	broad.mit.edu	37	19	6760704	6760704	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:6760704G>A	ENST00000245908.6	-	3	633	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	122					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTAAAGCTGCGTCGCAGAGGC	0.612																																						uc002mft.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(364-366)Cgc>Tgc		Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.							42.0	41.0	41.0					19																	6760704		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760704G>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.364C>T	19.37:g.6760704G>A	ENSP00000245908:p.Arg122Cys					SH2D3A_uc010xjg.2_Intron	p.R122C	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			2	558	-			122					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.364C>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430282	0.25726	.	.	ENSG00000125731	ENST00000245908	T	0.14640	2.49	4.97	2.85	0.33270	.	0.000000	0.42964	D	0.000625	T	0.08403	0.0209	N	0.25144	0.715	0.20489	N	0.999891	B	0.12630	0.006	B	0.06405	0.002	T	0.27839	-1.0062	10	0.35671	T	0.21	-14.3404	7.6349	0.28261	0.1911:0.0:0.8089:0.0	.	122	Q9BRG2	SH23A_HUMAN	C	122	ENSP00000245908:R122C	ENSP00000245908:R122C	R	-	1	0	SH2D3A	6711704	0.622000	0.27085	0.290000	0.24890	0.036000	0.12997	1.537000	0.36083	0.707000	0.31934	-0.266000	0.10368	CGC		0.612	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490	
FBN3	84467	broad.mit.edu	37	19	8154483	8154483	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:8154483G>A	ENST00000600128.1	-	51	6736	c.6322C>T	c.(6322-6324)Cgc>Tgc	p.R2108C	FBN3_ENST00000270509.2_Missense_Mutation_p.R2108C|FBN3_ENST00000601739.1_Missense_Mutation_p.R2108C			Q75N90	FBN3_HUMAN	fibrillin 3	2108	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTCACAGCGGAAGGATCCA	0.607																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6322-6324)Cgc>Tgc		Homo sapiens fibrillin 3 (FBN3), mRNA.							209.0	176.0	187.0					19																	8154483		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8154483G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6322C>T	19.37:g.8154483G>A	ENSP00000470498:p.Arg2108Cys					FBN3_uc002mje.3_5'UTR	p.R2108C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			49	6339	-			2108			EGF-like 33; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6322C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729904	0.89390	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.83837	-1.77	4.0	4.0	0.46444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061536	0.64402	U	0.000003	D	0.89361	0.6693	M	0.79614	2.46	0.80722	D	1	D	0.61697	0.99	P	0.59056	0.851	D	0.91337	0.5094	10	0.72032	D	0.01	.	16.1641	0.81743	0.0:0.0:1.0:0.0	.	2108	Q75N90	FBN3_HUMAN	C	2108;214	ENSP00000270509:R2108C	ENSP00000270509:R2108C	R	-	1	0	FBN3	8060483	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.207000	0.95064	1.781000	0.52344	0.449000	0.29647	CGC		0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
DDX49	54555	broad.mit.edu	37	19	19030579	19030579	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:19030579C>T	ENST00000247003.4	+	1	96	c.29C>T	c.(28-30)tCa>tTa	p.S10L	DDX49_ENST00000438170.2_5'UTR|COPE_ENST00000349893.4_5'Flank|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000351079.4_5'Flank|COPE_ENST00000262812.4_5'Flank|COPE_ENST00000600932.1_5'Flank	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	10							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTCGGGCTGTCATCGTGGCTC	0.677																																						uc002nkq.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18						c.(28-30)tCa>tTa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.							32.0	34.0	33.0					19																	19030579		2202	4297	6499	SO:0001583	missense	54555						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr19:19030579C>T		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.29C>T	19.37:g.19030579C>T	ENSP00000247003:p.Ser10Leu					COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank	p.S10L	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Epithelial(12;0.0289)		0	96	+			10					E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	c.29C>T	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956253	0.53293	.	.	ENSG00000105671	ENST00000247003	T	0.25912	1.77	5.48	5.48	0.80851	RNA helicase, DEAD-box type, Q motif (1);	0.126265	0.53938	D	0.000041	T	0.33760	0.0874	M	0.72479	2.2	0.80722	D	1	B	0.23591	0.088	B	0.26202	0.067	T	0.07673	-1.0760	10	0.39692	T	0.17	-11.5307	17.8898	0.88867	0.0:1.0:0.0:0.0	.	10	Q9Y6V7	DDX49_HUMAN	L	10	ENSP00000247003:S10L	ENSP00000247003:S10L	S	+	2	0	DDX49	18891579	1.000000	0.71417	0.948000	0.38648	0.055000	0.15305	6.474000	0.73578	2.575000	0.86900	0.462000	0.41574	TCA		0.677	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070	
TSHZ3	57616	broad.mit.edu	37	19	31767726	31767726	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:31767726G>A	ENST00000240587.4	-	2	3300	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	991					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGACTGATGTACGTGGAAG	0.488																																						uc002nsy.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2971-2973)taC>taT		Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.							113.0	99.0	104.0					19																	31767726		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767726G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2973C>T	19.37:g.31767726G>A							p.Y991Y	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			1	3038	-	Esophageal squamous(110;0.226)		991					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2973C>T	CCDS12421.2																																																																																				0.488	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
VASP	7408	broad.mit.edu	37	19	46027874	46027874	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:46027874A>G	ENST00000245932.6	+	11	1359	c.1003A>G	c.(1003-1005)Acg>Gcg	p.T335A		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	335	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCAACCCTGCACGCCCAGCTC	0.562																																						uc002pcg.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18						c.(1003-1005)Acg>Gcg		Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.							101.0	90.0	94.0					19																	46027874		2203	4300	6503	SO:0001583	missense	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46027874A>G		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.1003A>G	19.37:g.46027874A>G	ENSP00000245932:p.Thr335Ala					VASP_uc002pci.3_Missense_Mutation_p.T321A	p.T335A	NM_003370	NP_003361	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	10	1345	+		Ovarian(192;0.051)|all_neural(266;0.112)	335			EVH2.		B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	c.1003A>G	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	A	3.571	-0.087664	0.07097	.	.	ENSG00000125753	ENST00000245932	T	0.69435	-0.4	5.0	1.66	0.24008	.	0.482622	0.20202	N	0.097069	T	0.42063	0.1186	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	10	0.08837	T	0.75	-0.4514	4.4064	0.11411	0.6552:0.1684:0.1763:0.0	.	335	P50552	VASP_HUMAN	A	335	ENSP00000245932:T335A	ENSP00000245932:T335A	T	+	1	0	VASP	50719714	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	0.347000	0.20014	0.034000	0.15491	0.459000	0.35465	ACG		0.562	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1		
NT5C1B	93034	broad.mit.edu	37	2	18765378	18765378	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:18765378C>T	ENST00000359846.2	-	6	1124	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	NT5C1B_ENST00000600945.1_Silent_p.P349P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P349P|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.P289P|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	349					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ACGCCGGGCCCGGGGTCAGGA	0.587																																						uc010exr.3																			0											c.(871-873)ccG>ccA		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							124.0	122.0	122.0					2																	18765378		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18765378C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1047G>A	2.37:g.18765378C>T						NT5C1B-RDH14_uc002rcy.3_Silent_p.P349P|NT5C1B-RDH14_uc010yju.2_Silent_p.P289P|NT5C1B-RDH14_uc002rcz.3_Silent_p.P349P|NT5C1B-RDH14_uc010yjw.2_Silent_p.P332P|NT5C1B-RDH14_uc010yjv.2_Silent_p.P366P|NT5C1B-RDH14_uc010exs.3_Silent_p.P351P|NT5C1B-RDH14_uc002rda.3_Silent_p.P289P|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.P141P	p.P291P	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			4	985	-			349					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.873G>A	CCDS33150.1																																																																																				0.587	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
LINC01317	104355287	broad.mit.edu	37	2	33952485	33952485	+	lincRNA	SNP	A	A	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:33952485A>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CGGTTGTGGTACACGTAGGGG	0.627																																						uc002rpb.3																			0											c.(358-360)Tac>Aac		Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																																						151325							g.chr2:33952485A>T																													2.37:g.33952485A>T							p.Y120N							0	800	-									Missense_Mutation	SNP	ENST00000366209.2	37	c.358T>A																																																																																					0.627	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1		
TBC1D8	11138	broad.mit.edu	37	2	101650173	101650173	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:101650173C>G	ENST00000376840.4	-	10	1605	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	TBC1D8_ENST00000409318.1_Missense_Mutation_p.V551L			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	536	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACTCCTCCACCAGATTCCCG	0.542																																						uc010fiv.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1606-1608)Gtg>Ctg		Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.							83.0	93.0	90.0					2																	101650173		2194	4295	6489	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101650173C>G	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1606G>C	2.37:g.101650173C>G	ENSP00000366036:p.Val536Leu					TBC1D8_uc010yvw.2_Missense_Mutation_p.V551L|TBC1D8_uc002tau.4_Missense_Mutation_p.V293L	p.V536L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			9	1737	-			536			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.1606G>C	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319433	0.60524	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03889	3.77;3.77	4.97	4.97	0.65823	Rab-GAP/TBC domain (4);	0.000000	0.52532	D	0.000077	T	0.06917	0.0176	N	0.16037	0.36	0.49389	D	0.999785	P;P	0.44659	0.84;0.84	P;P	0.53062	0.524;0.717	T	0.50808	-0.8784	10	0.08599	T	0.76	-30.662	18.2557	0.90019	0.0:1.0:0.0:0.0	.	551;536	B7Z6L4;O95759	.;TBCD8_HUMAN	L	536;551	ENSP00000366036:V536L;ENSP00000386856:V551L	ENSP00000366036:V536L	V	-	1	0	TBC1D8	101016605	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.809000	0.69172	2.295000	0.77249	0.655000	0.94253	GTG		0.542	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
SAP130	79595	broad.mit.edu	37	2	128707447	128707447	+	Silent	SNP	G	G	C			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:128707447G>C	ENST00000259235.3	-	17	2895	c.2766C>G	c.(2764-2766)gtC>gtG	p.V922V	SAP130_ENST00000357702.5_Silent_p.V957V|SAP130_ENST00000259234.6_Silent_p.V930V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	922	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTAACCTTTGACCCGGACGT	0.433																																						uc010fmd.2																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2869-2871)gtC>gtG		Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.							73.0	65.0	67.0					2																	128707447		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707447G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2766C>G	2.37:g.128707447G>C						SAP130_uc002tpn.2_Silent_p.V682V|SAP130_uc002tpp.2_Silent_p.V922V	p.V957V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	17	3003	-	Colorectal(110;0.1)		922			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.2871C>G	CCDS2153.1																																																																																				0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	
KLHL41	10324	broad.mit.edu	37	2	170382111	170382111	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:170382111A>G	ENST00000284669.1	+	6	1803	c.1726A>G	c.(1726-1728)Aaa>Gaa	p.K576E	BBS5_ENST00000554017.1_Missense_Mutation_p.K514E|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.K514E	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	576					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											AGATGATAAAAAAGAATGGGC	0.373																																						uc002ueu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						c.(1726-1728)Aaa>Gaa		Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.							99.0	100.0	100.0					2																	170382111		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170382111A>G	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1726A>G	2.37:g.170382111A>G	ENSP00000284669:p.Lys576Glu					KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	p.K576E	NM_006063	NP_006054	O60662	KBTBA_HUMAN			5	1803	+			576					Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1726A>G	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705752	0.89018	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.65364	-0.15;-0.15;-0.15	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.62723	1.935	0.80722	D	1	D;B	0.52996	0.957;0.085	P;B	0.62298	0.9;0.059	T	0.77056	-0.2729	10	0.59425	D	0.04	.	15.7322	0.77814	1.0:0.0:0.0:0.0	.	514;576	E9PBE3;O60662	.;KBTBA_HUMAN	E	514;514;576	ENSP00000452313:K514E;ENSP00000424363:K514E;ENSP00000284669:K576E	ENSP00000284669:K576E	K	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170090357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.388000	0.90170	2.171000	0.68590	0.533000	0.62120	AAA		0.373	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
TTN	7273	broad.mit.edu	37	2	179419816	179419816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:179419816G>A	ENST00000591111.1	-	281	83671	c.83447C>T	c.(83446-83448)tCt>tTt	p.S27816F	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20392F|TTN_ENST00000359218.5_Missense_Mutation_p.S20517F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S29457F|TTN_ENST00000342175.6_Missense_Mutation_p.S20584F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26889F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27816	Ig-like 130.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTTCACAGATGTACCTGC	0.373																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80665-80667)tCt>tTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							78.0	75.0	76.0					2																	179419816		1860	4111	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419816G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83447C>T	2.37:g.179419816G>A	ENSP00000465570:p.Ser27816Phe					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20584F|TTN_uc021vta.1_Missense_Mutation_p.S20517F|TTN_uc021vtb.1_Missense_Mutation_p.S20392F	p.S26889F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	80891	-			27816			Fibronectin type-III 95.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80666C>T		.	.	.	.	.	.	.	.	.	.	G	18.55	3.649040	0.67358	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63165	0.2488	M	0.80422	2.495	0.48632	D	0.999682	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48524	0.58;0.58;0.58;0.58	T	0.68307	-0.5443	9	0.87932	D	0	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	20392;20517;20584;27816	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	26889;20392;20584;20517;20389	ENSP00000343764:S26889F;ENSP00000434586:S20392F;ENSP00000340554:S20584F;ENSP00000352154:S20517F	ENSP00000340554:S20584F	S	-	2	0	TTN	179128062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.369000	0.66138	2.826000	0.97356	0.655000	0.94253	TCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PLCL1	5334	broad.mit.edu	37	2	198966043	198966043	+	Missense_Mutation	SNP	C	C	T	rs541983270		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:198966043C>T	ENST00000428675.1	+	4	3352	c.2954C>T	c.(2953-2955)gCg>gTg	p.A985V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A887V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	985					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGAAATGGCGGACACAGTC	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.001					uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2953-2955)gCg>gTg		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						115.0	117.0	116.0					2																	198966043		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198966043C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2954C>T	2.37:g.198966043C>T	ENSP00000402861:p.Ala985Val					PLCL1_uc002uuv.4_Missense_Mutation_p.A906V	p.A985V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			3	3352	+			985					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2954C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	31	5.089464	0.94149	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.20069	2.1;2.13	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000058	T	0.36690	0.0976	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.61697	0.99;0.981	P;P	0.48738	0.588;0.588	T	0.22277	-1.0221	9	.	.	.	.	17.6534	0.88171	0.0:1.0:0.0:0.0	.	985;911	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	985;887	ENSP00000402861:A985V;ENSP00000414138:A887V	.	A	+	2	0	PLCL1	198674288	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.218000	0.72224	2.687000	0.91594	0.591000	0.81541	GCG		0.343	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
COL4A4	1286	broad.mit.edu	37	2	227872085	227872085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:227872085G>A	ENST00000396625.3	-	48	5236	c.5029C>T	c.(5029-5031)Cgc>Tgc	p.R1677C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1674C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1677	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R1677C(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATTTTCTGGCGTTGGGCCTGG	0.493																																						uc021vxr.1																			1	Substitution - Missense(1)	p.R1677C(2)|p.Q1676K(1)	stomach(1)	breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98	GRCh37	CM074108	COL4A4	M		c.(5029-5031)Cgc>Tgc		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							334.0	336.0	335.0					2																	227872085		1960	4159	6119	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227872085G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.5029C>T	2.37:g.227872085G>A	ENSP00000379866:p.Arg1677Cys					COL4A4_uc021vxs.1_Missense_Mutation_p.R1674C	p.R1677C	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	46	5130	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1677			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.5029C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692898	0.68271	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94758	-3.51;-3.51	5.89	5.89	0.94794	C-type lectin fold (1);	.	.	.	.	D	0.97520	0.9188	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	D	0.97936	1.0323	9	0.87932	D	0	.	14.2843	0.66235	0.0:0.0:0.8426:0.1573	.	1677	P53420	CO4A4_HUMAN	C	1677;1674	ENSP00000379866:R1677C;ENSP00000328553:R1674C	ENSP00000328553:R1674C	R	-	1	0	COL4A4	227580329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.357000	0.59436	2.793000	0.96121	0.655000	0.94253	CGC		0.493	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
CSE1L	1434	broad.mit.edu	37	20	47688965	47688965	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:47688965C>T	ENST00000262982.2	+	9	1034	c.911C>T	c.(910-912)aCg>aTg	p.T304M	CSE1L_ENST00000542325.1_Missense_Mutation_p.T87M|CSE1L_ENST00000396192.3_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	304					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTAGTTACAACGGGTCAAGAG	0.383																																						uc002xty.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(910-912)aCg>aTg		Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.							121.0	116.0	118.0					20																	47688965		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47688965C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.911C>T	20.37:g.47688965C>T	ENSP00000262982:p.Thr304Met					CSE1L_uc010zyg.2_Missense_Mutation_p.T87M|CSE1L_uc010ghx.3_Intron|CSE1L_uc010ghy.3_5'UTR|CSE1L_uc010zyh.2_5'Flank	p.T304M	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		8	1045	+			304					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.911C>T	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973411	0.92919	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325	T;T	0.67523	-0.27;-0.27	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78807	-0.2059	10	0.39692	T	0.17	-16.1171	19.8195	0.96586	0.0:1.0:0.0:0.0	.	87;304	B4DUC5;P55060	.;XPO2_HUMAN	M	70;304;87	ENSP00000262982:T304M;ENSP00000446477:T87M	ENSP00000262982:T304M	T	+	2	0	CSE1L	47122372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.756000	0.94617	0.655000	0.94253	ACG		0.383	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316	
UCKL1	54963	broad.mit.edu	37	20	62571796	62571796	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:62571796C>T	ENST00000354216.6	-	13	1387	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369908.5_Missense_Mutation_p.V434M|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369892.3_Missense_Mutation_p.V449M|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	449					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGAGGATCACGTGGTCATCG	0.677																																						uc010gkn.3																			0		p.H448Q(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1345-1347)Gtg>Atg		Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.							49.0	45.0	46.0					20																	62571796		2193	4297	6490	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571796C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1345G>A	20.37:g.62571796C>T	ENSP00000346155:p.Val449Met					UCKL1_uc011abm.2_Missense_Mutation_p.V434M|UCKL1_uc011abn.2_Non-coding_Transcript	p.V449M	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			12	1420	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		449					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.1345G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920335	0.92249	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908;ENST00000430743	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.958	D	0.91947	0.5568	9	0.87932	D	0	-35.1741	17.2965	0.87171	0.0:1.0:0.0:0.0	.	434;449	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	M	449;449;434;114	.	ENSP00000346155:V449M	V	-	1	0	UCKL1	62042240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.153000	0.50685	2.081000	0.62600	0.591000	0.81541	GTG		0.677	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859	
KRTAP10-4	386672	broad.mit.edu	37	21	45993777	45993777	+	Missense_Mutation	SNP	G	G	A	rs201736033		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr21:45993777G>A	ENST00000400374.3	+	1	172	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	48	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGCTGCTGCGCCCCGGCCCC	0.701																																						uc002zfk.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(142-144)Gcc>Acc		Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.		G	,THR/ALA	5,3807		0,5,1901	15.0	20.0	18.0		,142	3.5	0.6	21		18	2,8218		0,2,4108	no	intron,missense	TSPEAR,KRTAP10-4	NM_144991.2,NM_198687.1	,58	0,7,6009	AA,AG,GG		0.0243,0.1312,0.0582	,benign	,48/402	45993777	7,12025	1906	4110	6016	SO:0001583	missense	386672					keratin filament		g.chr21:45993777G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.142G>A	21.37:g.45993777G>A	ENSP00000383225:p.Ala48Thr					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A48T	NM_198687	NP_941960	P60372	KR104_HUMAN			0	172	+			48			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.142G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	7.748	0.702667	0.15172	0.001312	2.43E-4	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.04654	3.58	3.52	3.52	0.40303	.	.	.	.	.	T	0.02929	0.0087	N	0.21097	0.63	0.25613	N	0.98649	P	0.39250	0.665	B	0.23852	0.049	T	0.44544	-0.9321	9	0.25751	T	0.34	.	10.8646	0.46847	0.0:0.0:1.0:0.0	.	48	P60372	KR104_HUMAN	T	48;37	ENSP00000383225:A48T	ENSP00000333987:A37T	A	+	1	0	KRTAP10-4	44818205	0.000000	0.05858	0.554000	0.28268	0.300000	0.27592	-0.721000	0.04963	1.669000	0.50854	0.484000	0.47621	GCC		0.701	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
BPIFC	254240	broad.mit.edu	37	22	32829708	32829708	+	Missense_Mutation	SNP	G	G	A	rs371535232		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:32829708G>A	ENST00000397452.1	-	10	1086	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	BPIFC_ENST00000534972.1_Missense_Mutation_p.R50W|BPIFC_ENST00000432451.2_Missense_Mutation_p.R140W|BPIFC_ENST00000300399.3_Missense_Mutation_p.R326W			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	326						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.R326W(1)									GCACTTACCCGGGAGAGCACG	0.418																																						uc003amn.2																			1	Substitution - Missense(1)	p.R326W(1)	large_intestine(1)								c.(976-978)Cgg>Tgg		Homo sapiens BPI fold containing family C (BPIFC), mRNA.		G	TRP/ARG	0,4406		0,0,2203	99.0	93.0	95.0		976	1.2	0.9	22		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFC	NM_174932.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	326/508	32829708	1,13005	2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32829708G>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.976C>T	22.37:g.32829708G>A	ENSP00000380594:p.Arg326Trp					BPIFC_uc010gwo.2_Missense_Mutation_p.R140W|BPIFC_uc011amb.1_Missense_Mutation_p.R50W	p.R326W	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			8	976	-			326					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.976C>T	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511912	0.44660	0.0	1.16E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.75	1.23	0.21249	.	0.510840	0.21369	N	0.075663	T	0.06781	0.0173	L	0.44542	1.39	0.27177	N	0.960751	B;B	0.20780	0.048;0.038	B;B	0.15052	0.012;0.008	T	0.25012	-1.0144	10	0.62326	D	0.03	-0.2263	4.6379	0.12534	0.1646:0.0:0.5195:0.3159	.	140;326	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	W	326;326;50;140	ENSP00000380594:R326W;ENSP00000300399:R326W;ENSP00000439123:R50W;ENSP00000408920:R140W	ENSP00000300399:R326W	R	-	1	2	BPIFC	31159708	1.000000	0.71417	0.854000	0.33618	0.912000	0.54170	0.880000	0.28159	0.057000	0.16193	0.655000	0.94253	CGG		0.418	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
CACNA1I	8911	broad.mit.edu	37	22	40080363	40080363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:40080363G>T	ENST00000402142.3	+	36	5887	c.5887G>T	c.(5887-5889)Gag>Tag	p.E1963*	CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.E1963*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.E1928*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.E1928*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.E1928*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.E1969*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1963					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CATGCCAGCCGAGTTCTTCCA	0.637																																						uc003ayc.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5887-5889)Gag>Tag		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						40.0	46.0	44.0					22																	40080363		2014	4168	6182	SO:0001587	stop_gained	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40080363G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5887G>T	22.37:g.40080363G>T	ENSP00000385019:p.Glu1963*					CACNA1I_uc003ayd.3_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.E1843*	p.E1963*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			35	5887	+	Melanoma(58;0.0749)		1963					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Nonsense_Mutation	SNP	ENST00000402142.3	37	c.5887G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	45	11.423831	0.99559	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.05	5.05	0.67936	.	13.549800	0.00520	N	0.000189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	.	.	.	X	1963;1928;1963;1928;1969;1928	.	ENSP00000337829:E1969X	E	+	1	0	CACNA1I	38410309	1.000000	0.71417	0.944000	0.38274	0.837000	0.47467	7.182000	0.77689	2.334000	0.79466	0.561000	0.74099	GAG		0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
CSDC2	27254	broad.mit.edu	37	22	41969718	41969718	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:41969718C>T	ENST00000306149.7	+	3	780	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	79	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						TTCTCACGCTCACAGGGCCAT	0.612																																					NSCLC(181;294 2110 12667 14717 31090)	uc003bak.1																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(235-237)tCa>tTa		Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.							133.0	111.0	118.0					22																	41969718		2203	4300	6503	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969718C>T	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.236C>T	22.37:g.41969718C>T	ENSP00000302485:p.Ser79Leu						p.S79L	NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN			2	533	+			79			CSD.		Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.236C>T	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742553	0.96873	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.24	5.24	0.73138	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.86696	0.1926	9	0.72032	D	0.01	.	18.448	0.90693	0.0:1.0:0.0:0.0	.	79	Q9Y534	CSDC2_HUMAN	L	79;62	.	ENSP00000302485:S79L	S	+	2	0	CSDC2	40299664	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	7.738000	0.84966	2.451000	0.82905	0.555000	0.69702	TCA		0.612	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460	
ATP2B2	491	broad.mit.edu	37	3	10387792	10387792	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:10387792G>A	ENST00000352432.4	-	16	2503	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R798W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R812W|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R767W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R767W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	812					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACCTGCCGCTGCTCAGTG	0.682																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2434-2436)Cgg>Tgg		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							62.0	56.0	58.0					3																	10387792		2202	4299	6501	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10387792G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2434C>T	3.37:g.10387792G>A	ENSP00000324172:p.Arg812Trp					ATP2B2_uc003bvv.3_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.3_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.3_Missense_Mutation_p.R517W	p.R812W	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			16	2873	-			812					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.2434C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887241	0.72410	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92;-3.92	4.47	2.46	0.29980	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.934;0.993	D	0.97434	1.0017	10	0.87932	D	0	-32.5144	11.966	0.53035	0.0:0.0:0.507:0.493	.	747;779;812	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	W	812;767;767;812;798;747;668;812	ENSP00000324172:R812W;ENSP00000373311:R767W;ENSP00000380267:R767W;ENSP00000353414:R812W;ENSP00000344677:R798W;ENSP00000414854:R668W	ENSP00000342954:R812W	R	-	1	2	ATP2B2	10362792	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.625000	0.46452	0.964000	0.38108	0.484000	0.47621	CGG		0.682	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
SLC6A20	54716	broad.mit.edu	37	3	45814090	45814090	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:45814090C>T	ENST00000358525.4	-	5	715	c.600G>A	c.(598-600)gcG>gcA	p.A200A	SLC6A20_ENST00000456124.2_Silent_p.A200A|SLC6A20_ENST00000353278.4_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	200					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGGCAGTGACGCCGTGAAAT	0.597																																						uc011bai.2																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(598-600)gcG>gcA		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.							80.0	84.0	83.0					3																	45814090		2096	4218	6314	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45814090C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.600G>A	3.37:g.45814090C>T						SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron	p.A200A	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	4	724	-			200					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.600G>A	CCDS43077.1																																																																																				0.597	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
GHSR	2693	broad.mit.edu	37	3	172165997	172165997	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:172165997C>T	ENST00000241256.2	-	1	249	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_ENST00000427970.1_Silent_p.S69S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	69					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.S69S(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			2	Substitution - coding silent(2)	p.S69S(3)|p.S69T(1)	lung(2)	biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(205-207)tcG>tcA		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							69.0	59.0	62.0					3																	172165997		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165997C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.207G>A	3.37:g.172165997C>T						GHSR_uc011bpv.2_Silent_p.S69S	p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	250	-	Ovarian(172;0.00143)|Breast(254;0.197)		69					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.207G>A	CCDS3218.1																																																																																				0.657	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
SULT1B1	27284	broad.mit.edu	37	4	70599914	70599914	+	Silent	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:70599914A>G	ENST00000310613.3	-	5	741	c.444T>C	c.(442-444)aaT>aaC	p.N148N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	148					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGCTGTAAATTATTCATTA	0.353																																						uc003hen.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(442-444)aaT>aaC		Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.							27.0	28.0	27.0					4																	70599914		2202	4300	6502	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70599914A>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.444T>C	4.37:g.70599914A>G							p.N148N	NM_014465	NP_055280	O43704	ST1B1_HUMAN			4	742	-			148					O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.444T>C	CCDS3530.1																																																																																				0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
SEPT11	55752	broad.mit.edu	37	4	77949846	77949846	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:77949846G>A	ENST00000264893.6	+	8	1219	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SEPT11_ENST00000502584.1_Missense_Mutation_p.E340K|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000541121.1_Missense_Mutation_p.E350K|SEPT11_ENST00000510515.1_Missense_Mutation_p.E350K|SEPT11_ENST00000505788.1_Missense_Mutation_p.E340K	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	340					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GAAAGAAGAAGAAATGAGACA	0.403																																						uc011cca.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(1048-1050)Gaa>Aaa		Homo sapiens septin 11 (SEPT11), mRNA.							91.0	92.0	92.0					4																	77949846		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77949846G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.1018G>A	4.37:g.77949846G>A	ENSP00000264893:p.Glu340Lys					SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc003hkj.3_Missense_Mutation_p.E340K	p.E350K			Q9NVA2	SEP11_HUMAN			9	1400	+			340					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.1048G>A	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	G	35	5.505676	0.96371	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	6.04	6.04	0.98038	.	0.071333	0.64402	D	0.000018	D	0.84147	0.5408	M	0.67397	2.05	0.58432	D	0.999999	B;B	0.31077	0.251;0.307	B;B	0.32022	0.139;0.126	T	0.82370	-0.0491	10	0.66056	D	0.02	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	350;340	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	K	340;340;332;340;350;350	ENSP00000264893:E340K;ENSP00000426344:E340K;ENSP00000420839:E332K;ENSP00000424925:E340K;ENSP00000422896:E350K;ENSP00000443701:E350K	ENSP00000264893:E340K	E	+	1	0	SEPT11	78168870	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.338000	0.96553	2.873000	0.98535	0.561000	0.74099	GAA		0.403	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243	
FAT1	2195	broad.mit.edu	37	4	187541182	187541183	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:187541182_187541183insA	ENST00000441802.2	-	10	6766_6767	c.6557_6558insT	c.(6556-6558)ttcfs	p.F2186fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2186	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACTGTAGAAAGGTTTTTC	0.51										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6556-6558)ttcfs		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541182_187541183insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6558dupT	4.37:g.187541185_187541185dupA	ENSP00000406229:p.Phe2186fs	HNSCC(5;0.00058)					p.F2186fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			9	6745_6746	-			2186			Cadherin 20.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.6557_6558insT	CCDS47177.1																																																																																				0.510	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:132652162C>T	ENST00000265342.7	-	5	841	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	198	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557																																						uc003kyn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(592-594)Gaa>Aaa		Homo sapiens follistatin-like 4 (FSTL4), mRNA.							66.0	62.0	63.0					5																	132652162		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132652162C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.592G>A	5.37:g.132652162C>T	ENSP00000265342:p.Glu198Lys						p.E198K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	810	-		all_cancers(142;0.244)	198			EF-hand.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.592G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495350	0.64186	.	.	ENSG00000053108	ENST00000265342	T	0.71222	-0.55	5.41	5.41	0.78517	EF-hand-like domain (1);	0.099482	0.64402	D	0.000002	D	0.88526	0.6460	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90948	0.4803	10	0.62326	D	0.03	-23.322	16.7213	0.85410	0.0:1.0:0.0:0.0	.	198	Q6MZW2	FSTL4_HUMAN	K	198	ENSP00000265342:E198K	ENSP00000265342:E198K	E	-	1	0	FSTL4	132680061	1.000000	0.71417	0.923000	0.36655	0.034000	0.12701	6.478000	0.73596	2.704000	0.92352	0.561000	0.74099	GAA		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
NPM1	4869	broad.mit.edu	37	5	170819769	170819769	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:170819769A>C	ENST00000296930.5	+	5	709	c.408A>C	c.(406-408)ttA>ttC	p.L136F	NPM1_ENST00000517671.1_Missense_Mutation_p.L136F|NPM1_ENST00000351986.6_Missense_Mutation_p.L136F|NPM1_ENST00000393820.2_Missense_Mutation_p.L136F	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	136	Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAACTCTTAAGTATATCTG	0.388			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	uc003mbi.3				Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(406-408)ttA>ttC		Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.							94.0	109.0	104.0					5																	170819769		2201	4297	6498	SO:0001583	missense	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170819769A>C	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.408A>C	5.37:g.170819769A>C	ENSP00000296930:p.Leu136Phe					NPM1_uc003mbh.3_Missense_Mutation_p.L136F|NPM1_uc003mbj.3_Missense_Mutation_p.L136F	p.L136F	NM_002520	NP_002511	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	653	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	136			Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	c.408A>C	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	A	9.684	1.150034	0.21371	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000521672;ENST00000351986;ENST00000393820	T;T;T;T	0.47869	0.86;0.86;0.83;0.83	3.73	-5.22	0.02806	.	2.527990	0.02522	U	0.092715	T	0.36663	0.0975	L	0.43923	1.385	0.09310	N	1	B;B;B	0.27700	0.006;0.186;0.054	B;B;B	0.32724	0.044;0.151;0.111	T	0.13926	-1.0491	10	0.24483	T	0.36	.	4.1362	0.10172	0.3659:0.0:0.3131:0.321	.	136;136;136	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	F	136;136;72;136;136	ENSP00000428755:L136F;ENSP00000296930:L136F;ENSP00000341168:L136F;ENSP00000377408:L136F	ENSP00000296930:L136F	L	+	3	2	NPM1	170752374	0.008000	0.16893	0.221000	0.23827	0.943000	0.58893	-0.436000	0.06922	-1.210000	0.02627	0.397000	0.26171	TTA		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520	
NUP153	9972	broad.mit.edu	37	6	17629357	17629357	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:17629357C>T	ENST00000262077.2	-	18	3072	c.3073G>A	c.(3073-3075)Ggt>Agt	p.G1025S	NUP153_ENST00000537253.1_Missense_Mutation_p.G1056S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1025					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACACCTGTACCAAAGCTAAAA	0.443																																						uc003ncd.1																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3073-3075)Ggt>Agt		Homo sapiens nucleoporin 153kDa (NUP153), mRNA.							78.0	78.0	78.0					6																	17629357		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629357C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3073G>A	6.37:g.17629357C>T	ENSP00000262077:p.Gly1025Ser					NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	p.G1025S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		17	3273	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1025					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3073G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285916	0.80803	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.13089	2.66;2.62	5.75	5.75	0.90469	.	0.000000	0.50627	D	0.000101	T	0.30479	0.0766	M	0.79926	2.475	0.44555	D	0.997515	D;B;B	0.57571	0.98;0.44;0.35	P;B;B	0.59595	0.86;0.169;0.114	T	0.01925	-1.1246	10	0.48119	T	0.1	-10.3324	19.9525	0.97208	0.0:1.0:0.0:0.0	.	1056;1005;1025	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	1025;1005;1056	ENSP00000262077:G1025S;ENSP00000444029:G1056S	ENSP00000262077:G1025S	G	-	1	0	NUP153	17737336	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.834000	0.48167	2.719000	0.93026	0.655000	0.94253	GGT		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
SLC26A8	116369	broad.mit.edu	37	6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:35923059G>A	ENST00000490799.1	-	17	2455	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A596V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A701V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2101-2103)gCg>gTg		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							171.0	164.0	166.0					6																	35923059		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923059G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2102C>T	6.37:g.35923059G>A	ENSP00000417638:p.Ala701Val					SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A283V|SLC26A8_uc003oll.3_Missense_Mutation_p.A596V|SLC26A8_uc003oln.3_Missense_Mutation_p.A701V	p.A701V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN			16	2213	-			701			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2102C>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736714	0.30774	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95205	-3.31;-3.64;-3.31	4.25	-2.79	0.05841	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.220400	0.00604	N	0.000383	D	0.82268	0.5000	L	0.42245	1.32	0.09310	N	1	P;D;D	0.57899	0.919;0.981;0.958	B;B;B	0.41412	0.278;0.356;0.281	T	0.76929	-0.2777	10	0.49607	T	0.09	.	0.6772	0.00869	0.1896:0.2875:0.2307:0.2921	.	701;596;283	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	701;596;701	ENSP00000417638:A701V;ENSP00000378100:A596V;ENSP00000347778:A701V	ENSP00000347778:A701V	A	-	2	0	SLC26A8	36031037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.722000	0.04958	-0.350000	0.08262	-1.130000	0.01982	GCG		0.502	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
FRK	2444	broad.mit.edu	37	6	116263659	116263659	+	Missense_Mutation	SNP	G	G	A	rs142072444		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:116263659G>A	ENST00000606080.1	-	8	1882	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	FRK_ENST00000538210.1_Missense_Mutation_p.T337I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TGTCTCAAATGTAGGTCGTTC	0.398																																						uc003pwi.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1435-1437)aCa>aTa		Homo sapiens fyn-related kinase (FRK), mRNA.		G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	146.0	138.0	141.0		1436	2.5	0.2	6	dbSNP_134	141	0,8600		0,0,4300	no	missense	FRK	NM_002031.2	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	479/506	116263659	1,13005	2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263659G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1436C>T	6.37:g.116263659G>A	ENSP00000476145:p.Thr479Ile						p.T479I	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	7	1883	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	479			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1436C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249193	0.22880	2.27E-4	0.0	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.39787	1.06;1.06	5.59	2.55	0.30701	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.57446	0.2054	H	0.94183	3.505	0.44042	D	0.99677	D	0.56521	0.976	P	0.57244	0.816	T	0.68652	-0.5352	10	0.87932	D	0	.	10.8476	0.46751	0.0:0.1272:0.6089:0.2638	.	479	P42685	FRK_HUMAN	I	479;337	ENSP00000357615:T479I;ENSP00000443075:T337I	ENSP00000357615:T479I	T	-	2	0	FRK	116370352	1.000000	0.71417	0.232000	0.24009	0.011000	0.07611	3.434000	0.52841	0.658000	0.30925	-0.282000	0.10007	ACA		0.398	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
DFNA5	1687	broad.mit.edu	37	7	24742379	24742379	+	Splice_Site	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:24742379C>T	ENST00000342947.3	-	9	1682	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L	DFNA5_ENST00000409775.3_Splice_Site_p.L419L|DFNA5_ENST00000419307.1_Splice_Site_p.L255L|DFNA5_ENST00000409970.1_Splice_Site_p.L255L|DFNA5_ENST00000545231.1_Splice_Site_p.L255L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	419					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTTGCTTACCAAGTGGCACA	0.512																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.e9+1		Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.							116.0	113.0	114.0					7																	24742379		2203	4300	6503	SO:0001630	splice_region_variant	1687				sensory perception of sound			g.chr7:24742379C>T	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1257+1G>A	7.37:g.24742379C>T						DFNA5_uc003sxa.1_Splice_Site_p.L419_splice|DFNA5_uc010kut.1_Splice_Site_p.L255_splice	p.L419_splice	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN			9	1345	-			419					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.1257_splice	CCDS5389.1																																																																																				0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	Silent
DPY19L2P1	554236	broad.mit.edu	37	7	35189704	35189704	+	IGR	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:35189704C>T								DPY19L2P1 (42358 upstream) : TBX20 (52337 downstream)																							ACTTACAACACGAGGGTCTTT	0.264																																						uc003teq.1																			0													Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																																				SO:0001628	intergenic_variant	554236							g.chr7:35189704C>T																													7.37:g.35189704C>T						DPY19L2P1_uc003tep.1_5'Flank|DPY19L2P1_uc010kwz.1_Non-coding_Transcript								6		-									Translation_Start_Site	SNP		37																																																																																					0	0.264								
TNS3	64759	broad.mit.edu	37	7	47440469	47440469	+	Missense_Mutation	SNP	C	C	T	rs183514866		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:47440469C>T	ENST00000398879.1	-	14	1132	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	TNS3_ENST00000311160.9_Missense_Mutation_p.V256I|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	256	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAAAATGACGTCACGGGTG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0					uc003tnw.3																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(766-768)Gtc>Atc		Homo sapiens tensin 3 (TNS3), mRNA.		C	ILE/VAL	1,4027		0,1,2013	89.0	109.0	103.0		766	4.1	0.2	7		103	0,8340		0,0,4170	yes	missense	TNS3	NM_022748.11	29	0,1,6183	TT,TC,CC		0.0,0.0248,0.0081	probably-damaging	256/1446	47440469	1,12367	2014	4170	6184	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47440469C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.766G>A	7.37:g.47440469C>T	ENSP00000381854:p.Val256Ile					TNS3_uc010kyo.1_3'UTR	p.V256I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			13	1124	-			256			C2 tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.766G>A	CCDS5506.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.13	3.311796	0.60414	2.48E-4	0.0	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.99	4.11	0.48088	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.214637	0.39083	N	0.001463	T	0.80265	0.4591	L	0.52266	1.64	0.80722	D	1	B	0.28470	0.213	B	0.27715	0.082	T	0.76239	-0.3032	10	0.39692	T	0.17	-31.2918	11.194	0.48703	0.0:0.909:0.0:0.091	.	256	Q68CZ2	TENS3_HUMAN	I	256;366;256;359;345	ENSP00000312143:V256I;ENSP00000381854:V256I;ENSP00000414358:V359I;ENSP00000396914:V345I	ENSP00000312143:V256I	V	-	1	0	TNS3	47406994	0.997000	0.39634	0.225000	0.23894	0.886000	0.51366	3.597000	0.54031	1.120000	0.41904	0.456000	0.33151	GTC		0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
TFPI2	7980	broad.mit.edu	37	7	93516148	93516148	+	Missense_Mutation	SNP	C	C	T	rs12669450	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:93516148C>T	ENST00000222543.5	-	5	1004	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	TFPI2_ENST00000545378.1_Missense_Mutation_p.R120Q|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	231			R -> Q (in dbSNP:rs12669450).		blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328													C|||	13	0.00259585	0.0	0.0	5008	,	,		17378	0.0129		0.0	False		,,,				2504	0.0					uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(691-693)cGg>cAg		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							114.0	126.0	122.0					7																	93516148		2201	4299	6500	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516148C>T	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.692G>A	7.37:g.93516148C>T	ENSP00000222543:p.Arg231Gln					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q	p.R231Q	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		4	767	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		231		R -> Q (in dbSNP:rs12669450).			Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.692G>A	CCDS5632.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	13.97	2.396427	0.42512	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.55413	0.65;0.52	5.06	-2.9	0.05648	.	1.498900	0.03794	N	0.263314	T	0.27134	0.0665	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.04013	0.0;0.001;0.001	T	0.18335	-1.0340	10	0.25106	T	0.35	.	10.8999	0.47045	0.0:0.3349:0.0:0.6651	rs12669450;rs12669450	163;220;231	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	Q	231;120	ENSP00000222543:R231Q;ENSP00000438861:R120Q	ENSP00000222543:R231Q	R	-	2	0	TFPI2	93354084	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-0.792000	0.04594	-0.445000	0.07159	-0.793000	0.03317	CGG		0.328	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
NRF1	4899	broad.mit.edu	37	7	129357140	129357140	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129357140G>A	ENST00000393232.1	+	9	1264	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	NRF1_ENST00000393231.3_Missense_Mutation_p.A383T|NRF1_ENST00000393230.2_Missense_Mutation_p.A383T|NRF1_ENST00000311967.2_Missense_Mutation_p.A383T|NRF1_ENST00000223190.4_Missense_Mutation_p.A383T|NRF1_ENST00000353868.4_Missense_Mutation_p.A317T|NRF1_ENST00000539636.1_Missense_Mutation_p.A222T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	383	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CCAGGCGGTGGCATCGTTGGC	0.567																																						uc003vpa.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1147-1149)Gca>Aca		Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.							76.0	69.0	72.0					7																	129357140		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357140G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1147G>A	7.37:g.129357140G>A	ENSP00000376924:p.Ala383Thr					NRF1_uc003voz.3_Missense_Mutation_p.A383T|NRF1_uc011kpa.2_Missense_Mutation_p.A222T|NRF1_uc003vpb.3_Missense_Mutation_p.A383T	p.A383T	NM_005011	NP_005002	Q16656	NRF1_HUMAN			8	1267	+			383			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1147G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062263	0.55432	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	L	0.38175	1.15	0.80722	D	1	D;B	0.63880	0.993;0.267	D;B	0.70935	0.971;0.039	T	0.61662	-0.7017	9	0.26408	T	0.33	-8.058	18.4942	0.90858	0.0:0.0:1.0:0.0	.	383;383	Q96AN2;Q16656	.;NRF1_HUMAN	T	383;317;222;383;383;383;383	.	ENSP00000223190:A383T	A	+	1	0	NRF1	129144376	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	9.455000	0.97625	2.617000	0.88574	0.650000	0.86243	GCA		0.567	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	
ZC3HC1	51530	broad.mit.edu	37	7	129662254	129662254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129662254C>T	ENST00000358303.4	-	9	1429	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.D406N|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.D428N|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.D378N	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	449					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCGCTGGCATCTGGTTCAGTT	0.552																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.3																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(1345-1347)Gat>Aat		Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.							122.0	105.0	111.0					7																	129662254		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129662254C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1345G>A	7.37:g.129662254C>T	ENSP00000351052:p.Asp449Asn					ZC3HC1_uc010lma.3_Missense_Mutation_p.D265N	p.D449N	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			8	1372	-	Melanoma(18;0.0435)		449					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.1345G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011879	0.75046	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.42513	1.51;0.98;1.52;0.97	5.5	5.5	0.81552	.	0.461989	0.23834	N	0.044117	T	0.45577	0.1349	L	0.54323	1.7	0.09310	N	0.999999	D;B;B	0.53312	0.959;0.215;0.112	P;B;B	0.46076	0.503;0.043;0.031	T	0.43376	-0.9395	10	0.34782	T	0.22	-0.5087	16.9067	0.86130	0.0:1.0:0.0:0.0	.	378;449;406	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	N	449;378;428;406	ENSP00000351052:D449N;ENSP00000353933:D378N;ENSP00000309301:D428N;ENSP00000418533:D406N	ENSP00000309301:D428N	D	-	1	0	ZC3HC1	129449490	0.420000	0.25457	0.010000	0.14722	0.074000	0.17049	1.727000	0.38095	2.610000	0.88304	0.650000	0.86243	GAT		0.552	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
ABCF2	10061	broad.mit.edu	37	7	150921937	150921937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:150921937G>A	ENST00000287844.2	-	3	401	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.Q98*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	98	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCTTGACCATGAAAG	0.507																																						uc003wjo.1																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(292-294)Caa>Taa		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							121.0	105.0	110.0					7																	150921937		2203	4300	6503	SO:0001587	stop_gained	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150921937G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.292C>T	7.37:g.150921937G>A	ENSP00000287844:p.Gln98*					ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q98*	p.Q98*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	403	-			98			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Nonsense_Mutation	SNP	ENST00000287844.2	37	c.292C>T	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	37	6.530000	0.97641	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-6.6656	17.2385	0.87006	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000222388:Q98X	Q	-	1	0	ABCF2	150552870	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.527000	0.98044	2.746000	0.94184	0.655000	0.94253	CAA		0.507	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692	
RAB11FIP1	80223	broad.mit.edu	37	8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	rs140686896	byFrequency	TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:37732412C>T	ENST00000330843.4	-	3	1255	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A415T|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	415					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1243-1245)Gca>Aca		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.		C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	62.0	60.0	61.0		1243,1243	4.9	0.0	8	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	415/1284,415/650	37732412	2,13004	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732412C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1243G>A	8.37:g.37732412C>T	ENSP00000331342:p.Ala415Thr					RAB11FIP1_uc003xkn.2_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	p.A415T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	1299	-		Lung NSC(58;0.118)|all_lung(54;0.195)	415					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1243G>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749665	0.30955	4.54E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31769	2.23;2.68;1.5;1.48	4.91	4.91	0.64330	.	0.602245	0.15777	N	0.245104	T	0.25644	0.0624	M	0.70595	2.14	0.09310	N	1	B;P;P;P	0.48640	0.089;0.759;0.907;0.913	B;B;B;B	0.31495	0.004;0.061;0.131;0.121	T	0.31696	-0.9934	10	0.23302	T	0.38	-5.0172	10.3231	0.43777	0.1316:0.6563:0.2121:0.0	.	267;267;415;415	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	T	415;415;267;267	ENSP00000287263:A415T;ENSP00000331342:A415T;ENSP00000430009:A267T;ENSP00000430680:A267T	ENSP00000287263:A415T	A	-	1	0	RAB11FIP1	37851570	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.327000	0.19663	2.264000	0.75181	0.563000	0.77884	GCA		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
IMPAD1	54928	broad.mit.edu	37	8	57878872	57878872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:57878872C>T	ENST00000262644.4	-	4	944	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	229					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTAGGAAGAGCGGGCTTTCAC	0.423																																						uc003xte.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(685-687)cGc>cAc		Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.							145.0	114.0	124.0					8																	57878872		2203	4300	6503	SO:0001583	missense	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57878872C>T		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.686G>A	8.37:g.57878872C>T	ENSP00000262644:p.Arg229His						p.R229H	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			3	972	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	229					Q6NVY7	Missense_Mutation	SNP	ENST00000262644.4	37	c.686G>A	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320001	0.81469	.	.	ENSG00000104331	ENST00000262644	T	0.51817	0.69	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.68224	-0.5465	10	0.40728	T	0.16	-31.6143	13.7144	0.62687	0.0:0.926:0.0:0.074	.	229	Q9NX62	IMPA3_HUMAN	H	229	ENSP00000262644:R229H	ENSP00000262644:R229H	R	-	2	0	IMPAD1	58041426	1.000000	0.71417	0.905000	0.35620	0.851000	0.48451	5.692000	0.68256	1.398000	0.46701	-0.140000	0.14226	CGC		0.423	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813	
MTDH	92140	broad.mit.edu	37	8	98735243	98735243	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:98735243A>G	ENST00000336273.3	+	11	1986	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MTDH_ENST00000519934.1_Missense_Mutation_p.N497S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	553					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCAAGCAAAATAGTGTGCCT	0.363																																						uc003yhz.3																			0		p.N553N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1657-1659)aAt>aGt		Homo sapiens metadherin (MTDH), mRNA.							157.0	154.0	155.0					8																	98735243		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98735243A>G	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1658A>G	8.37:g.98735243A>G	ENSP00000338235:p.Asn553Ser					MTDH_uc010mbf.3_Non-coding_Transcript	p.N553S	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1986	+	Breast(36;2.56e-06)		553					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1658A>G	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262556	0.80358	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.64991	-0.08;-0.13	6.06	6.06	0.98353	.	0.199241	0.51477	D	0.000098	T	0.74831	0.3768	L	0.55481	1.735	0.52501	D	0.999955	D	0.71674	0.998	D	0.80764	0.994	T	0.74134	-0.3763	10	0.42905	T	0.14	-15.4726	15.1804	0.72952	1.0:0.0:0.0:0.0	.	553	Q86UE4	LYRIC_HUMAN	S	553;497;176	ENSP00000338235:N553S;ENSP00000428168:N497S	ENSP00000338235:N553S	N	+	2	0	MTDH	98804419	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.397000	0.73239	2.324000	0.78689	0.533000	0.62120	AAT		0.363	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
VPS13B	157680	broad.mit.edu	37	8	100732741	100732741	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:100732741G>A	ENST00000358544.2	+	38	7012	c.6901G>A	c.(6901-6903)Gac>Aac	p.D2301N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D2276N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2301					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTCAGATGACCTACGGAC	0.403																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(6901-6903)Gac>Aac		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							73.0	70.0	71.0					8																	100732741		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100732741G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6901G>A	8.37:g.100732741G>A	ENSP00000351346:p.Asp2301Asn					VPS13B_uc003yiw.3_Missense_Mutation_p.D2276N	p.D2301N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	7012	+	Breast(36;3.73e-07)		2301					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6901G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339832	0.95783	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.93133	-3.14;-3.17	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.95951	0.8954	10	0.87932	D	0	.	20.3723	0.98894	0.0:0.0:1.0:0.0	.	2276;2301	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	2276;2301	ENSP00000349685:D2276N;ENSP00000351346:D2301N	ENSP00000349685:D2276N	D	+	1	0	VPS13B	100801917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.993000	0.93524	2.820000	0.97059	0.655000	0.94253	GAC		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
FBP2	8789	broad.mit.edu	37	9	97333780	97333780	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:97333780G>A	ENST00000375337.3	-	4	597	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	177					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTTGCCCTGTGGAGAGAGCCA	0.567																																						uc004auv.3																			0		p.L176F(1)		endometrium(1)|large_intestine(3)|lung(5)	9						c.(529-531)tcC>tcT		Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.							106.0	88.0	94.0					9																	97333780		2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333780G>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.531C>T	9.37:g.97333780G>A							p.S177S	NM_003837	NP_003828	O00757	F16P2_HUMAN			3	598	-		Acute lymphoblastic leukemia(62;0.136)	177					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.531C>T	CCDS6711.1																																																																																				0.567	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837	
ERCC6L2	375748	broad.mit.edu	37	9	98669532	98669532	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:98669532T>G	ENST00000288985.7	+	4	1105	c.800T>G	c.(799-801)tTa>tGa	p.L267*	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Nonsense_Mutation_p.L78*|RNA5SP289_ENST00000362332.1_RNA	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	267	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ACACTACGCTTATGCCTGGAT	0.303																																						uc010mry.1																			0													Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.							76.0	73.0	74.0					9																	98669532		2203	4300	6503	SO:0001587	stop_gained	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98669532T>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.800T>G	9.37:g.98669532T>G	ENSP00000288985:p.Leu267*					ERCC6L2_uc010mrx.1_Non-coding_Transcript|ERCC6L2_uc004avt.4_Nonsense_Mutation_p.L267*|ERCC6L2_uc011lum.2_Intron|ERCC6L2_uc010mrz.3_Nonsense_Mutation_p.L78*				Q5T890	RAD26_HUMAN					+								A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000288985.7	37		CCDS35072.1	.	.	.	.	.	.	.	.	.	.	T	37	6.112488	0.97296	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	.	.	.	5.35	5.35	0.76521	.	0.000000	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.7993	15.3443	0.74324	0.0:0.0:0.0:1.0	.	.	.	.	X	267;78	.	ENSP00000288985:L267X	L	+	2	0	C9orf102	97709353	0.996000	0.38824	0.999000	0.59377	0.990000	0.78478	7.031000	0.76491	2.025000	0.59659	0.482000	0.46254	TTA		0.303	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
AKAP2	11217	broad.mit.edu	37	9	112900147	112900147	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:112900147T>A	ENST00000259318.7	+	2	1837	c.1630T>A	c.(1630-1632)Ttt>Att	p.F544I	AKAP2_ENST00000555236.1_Missense_Mutation_p.F775I|AKAP2_ENST00000374525.1_Missense_Mutation_p.F633I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.F775I|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.F775I|AKAP2_ENST00000434623.2_Missense_Mutation_p.F633I|AKAP2_ENST00000510514.5_Missense_Mutation_p.F775I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	544										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTCCAAGTCATTTAGTGATCA	0.542																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3019-3021)Ttt>Att		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							70.0	66.0	68.0					9																	112900147		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900147T>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1630T>A	9.37:g.112900147T>A	ENSP00000259318:p.Phe544Ile					PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.F544I	p.F1007I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			8	3211	+			544					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3019T>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135696	0.37728	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47869	2.16;2.16;2.16;2.16;1.41;0.83;0.83;1.44	5.96	4.83	0.62350	.	0.560464	0.20525	N	0.090638	T	0.32406	0.0828	N	0.24115	0.695	0.24694	N	0.9933	B;P;P;P;P;P;P;B	0.40083	0.1;0.57;0.546;0.702;0.577;0.617;0.617;0.335	B;B;B;B;B;B;B;B	0.39217	0.054;0.294;0.244;0.294;0.154;0.178;0.178;0.053	T	0.09509	-1.0671	10	0.23891	T	0.37	-9.9348	9.764	0.40550	0.0:0.0771:0.0:0.9229	.	544;633;627;633;634;775;775;593	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	775;775;775;775;633;633;593;544	ENSP00000363654:F775I;ENSP00000305861:F775I;ENSP00000451476:F775I;ENSP00000421522:F775I;ENSP00000404782:F633I;ENSP00000363649:F633I;ENSP00000419268:F593I;ENSP00000259318:F544I	ENSP00000259318:F544I	F	+	1	0	PALM2-AKAP2;AKAP2	111939968	0.647000	0.27304	0.077000	0.20336	0.824000	0.46624	1.922000	0.40045	1.081000	0.41110	0.533000	0.62120	TTT		0.542	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
SVEP1	79987	broad.mit.edu	37	9	113189912	113189912	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:113189912G>T	ENST00000401783.2	-	36	6270	c.5934C>A	c.(5932-5934)aaC>aaA	p.N1978K	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.N1955K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1978	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAAGTGAAGTTATTCCCCG	0.527											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010mtz.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5932-5934)aaC>aaA		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							134.0	135.0	134.0					9																	113189912		2074	4210	6284	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113189912G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5934C>A	9.37:g.113189912G>T	ENSP00000384917:p.Asn1978Lys		OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1448	SVEP1_uc010mty.3_5'UTR	p.N1978K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			35	6271	-			1978			Sushi 10.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5934C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276733	0.59758	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.24538	1.85;1.85	6.17	4.34	0.51931	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	L	0.53729	1.69	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.13575	-1.0504	10	0.20519	T	0.43	.	10.6128	0.45432	0.1968:0.0:0.8032:0.0	.	1978	Q4LDE5	SVEP1_HUMAN	K	1978;1955	ENSP00000384917:N1978K;ENSP00000363593:N1955K	ENSP00000363593:N1955K	N	-	3	2	SVEP1	112229733	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	3.248000	0.51430	1.635000	0.50512	0.655000	0.94253	AAC		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ZNF883	169834	broad.mit.edu	37	9	115759611	115759611	+	lincRNA	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:115759611C>T	ENST00000427548.1	-	0	2202							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCTCTGATGTCGAATTAGTGA	0.373																																						uc011lwy.2																			0											c.(928-930)cGa>cAa		Homo sapiens zinc finger protein 883 (ZNF883), mRNA.							177.0	193.0	187.0					9																	115759611		2156	4278	6434			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759611C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759611C>T							p.R310Q	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			4	2168	-			310						Missense_Mutation	SNP	ENST00000427548.1	37	c.929G>A																																																																																					0.373	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
NR5A1	2516	broad.mit.edu	37	9	127262849	127262849	+	Silent	SNP	C	C	T	rs368717361		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:127262849C>T	ENST00000373588.4	-	4	586	c.390G>A	c.(388-390)ccG>ccA	p.P130P		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	130					adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						GAGGGGGCGGCGGGGGCACCC	0.697													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12911	0.0		0.0	False		,,,				2504	0.0					uc004boo.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(388-390)ccG>ccA		Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.		C		3,4247		0,3,2122	16.0	19.0	18.0		390	-7.6	0.0	9		18	0,8340		0,0,4170	no	coding-synonymous	NR5A1	NM_004959.4		0,3,6292	TT,TC,CC		0.0,0.0706,0.0238		130/462	127262849	3,12587	2125	4170	6295	SO:0001819	synonymous_variant	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127262849C>T	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.390G>A	9.37:g.127262849C>T						NR5A1_uc022bnh.1_Silent_p.P130P	p.P130P	NM_004959	NP_004950	Q13285	STF1_HUMAN			3	577	-			130					O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	c.390G>A	CCDS6856.1																																																																																				0.697	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959	
P2RY8	286530	broad.mit.edu	37	X	1584460	1584460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:1584460G>A	ENST00000381297.4	-	2	1202	c.992C>T	c.(991-993)aCg>aTg	p.T331M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc022brv.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(991-993)aCg>aTg		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							46.0	54.0	52.0					X																	1584460		2203	4295	6498	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584460G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.992C>T	X.37:g.1584460G>A	ENSP00000370697:p.Thr331Met					CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T331M	p.T331M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	992	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	331						Missense_Mutation	SNP	ENST00000381297.4	37	c.992C>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	5.572	0.290411	0.10567	.	.	ENSG00000182162	ENST00000381297	T	0.63096	-0.02	2.73	1.54	0.23209	.	1.173220	0.06864	U	0.799724	T	0.40498	0.1119	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.26467	-1.0102	10	0.44086	T	0.13	.	6.1963	0.20552	0.8613:0.0:0.1387:0.0	.	331	Q86VZ1	P2RY8_HUMAN	M	331	ENSP00000370697:T331M	ENSP00000370697:T331M	T	-	2	0	P2RY8	1544460	0.961000	0.32948	0.001000	0.08648	0.421000	0.31385	2.068000	0.41471	0.007000	0.14760	0.279000	0.19357	ACG		0.701	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
RGAG1	57529	broad.mit.edu	37	X	109694900	109694900	+	Missense_Mutation	SNP	C	C	T	rs200006075		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:109694900C>T	ENST00000465301.2	+	3	1301	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	RGAG1_ENST00000540313.1_Missense_Mutation_p.T352M	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	352										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCACTAATGACGGCCCTACCC	0.537																																						uc004eor.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1054-1056)aCg>aTg		Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.		C	MET/THR	0,3835		0,0,1632,571	222.0	211.0	215.0		1055	-0.5	0.0	X		215	2,6726		0,2,2426,1872	yes	missense	RGAG1	NM_020769.2	81	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	benign	352/1389	109694900	2,10561	2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694900C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1055C>T	X.37:g.109694900C>T	ENSP00000419786:p.Thr352Met					RGAG1_uc011msr.1_Missense_Mutation_p.T352M	p.T352M	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			2	1301	+			352					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1055C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	6.315	0.426167	0.11987	0.0	2.97E-4	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.46063	0.88;0.88	4.42	-0.488	0.12056	.	0.767535	0.10741	N	0.639456	T	0.16811	0.0404	N	0.11560	0.145	0.09310	N	1	B	0.30281	0.275	B	0.15870	0.014	T	0.16482	-1.0401	9	.	.	.	0.0112	4.5108	0.11910	0.1602:0.3337:0.0:0.5061	.	352	Q8NET4	RGAG1_HUMAN	M	352	ENSP00000419786:T352M;ENSP00000441452:T352M	.	T	+	2	0	RGAG1	109581556	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.000000	0.12993	-0.265000	0.09352	-0.190000	0.12839	ACG		0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
