#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
METTL3	56339	broad.mit.edu	37	14	21969230	21969230	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:21969230C>G	ENST00000298717.4	-	5	1092	c.941G>C	c.(940-942)tGc>tCc	p.C314S	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	314					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.C314S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGAAAGAGCAGTCACCTAA	0.413																																						ENST00000298717.4																			1	Substitution - Missense(1)	p.C314S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(940-942)tGc>tCc		methyltransferase like 3							72.0	71.0	72.0					14																	21969230		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21969230C>G	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.941G>C	14.37:g.21969230C>G	ENSP00000298717:p.Cys314Ser					METTL3_ENST00000538267.1_3'UTR	p.C314S	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	5	1092	-	all_cancers(95;0.000628)		314					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.941G>C	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490633	0.84962	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86787	0.1983	9	0.87932	D	0	-8.1129	17.9303	0.88994	0.0:1.0:0.0:0.0	.	314	Q86U44	MTA70_HUMAN	S	314	.	ENSP00000298717:C314S	C	-	2	0	METTL3	21039070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.999000	0.76283	2.760000	0.94817	0.655000	0.94253	TGC		0.413	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		3	137	0	0	0	0.115264	0	3	137				
ITGB6	3694	broad.mit.edu	37	2	160994176	160994176	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:160994176C>A	ENST00000283249.2	-	10	1666	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	477	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.G477W(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCACACACCCCACACTGGAAA	0.572																																						ENST00000283249.2																			2	Substitution - Missense(2)	p.G477W(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1429-1431)Ggg>Tgg		integrin, beta 6							69.0	50.0	57.0					2																	160994176		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994176C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1429G>T	2.37:g.160994176C>A	ENSP00000283249:p.Gly477Trp					ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	p.G477W			P18564	ITB6_HUMAN			10	1666	-			477			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1429G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618527	0.87359	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92010	0.5617	10	0.87932	D	0	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	435;477	E9PEE8;P18564	.;ITB6_HUMAN	W	477;435;477;477	ENSP00000283249:G477W;ENSP00000408024:G435W;ENSP00000386828:G477W;ENSP00000386367:G477W	ENSP00000283249:G477W	G	-	1	0	ITGB6	160702422	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.776000	0.85560	2.690000	0.91761	0.655000	0.94253	GGG		0.572	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		4	92	1	0	0.150653	0.150653	0.156233	4	92				
KRTAP5-9	3846	broad.mit.edu	37	11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:71259894C>T	ENST00000528743.2	+	1	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	64	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S64F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632																																						ENST00000528743.2																			1	Substitution - Missense(1)	p.S64F(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(190-192)tCc>tTc		keratin associated protein 5-9							101.0	117.0	111.0					11																	71259894		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71259894C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.191C>T	11.37:g.71259894C>T	ENSP00000431443:p.Ser64Phe						p.S64F	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	429	+			64			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.191C>T	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	3.767	-0.048487	0.07407	.	.	ENSG00000254997	ENST00000528743	T	0.04317	3.65	1.21	1.21	0.21127	.	.	.	.	.	T	0.21509	0.0518	M	0.91510	3.215	0.23376	N	0.997801	D	0.65815	0.995	D	0.63381	0.914	T	0.02581	-1.1138	9	0.62326	D	0.03	.	8.3609	0.32359	0.0:1.0:0.0:0.0	.	64	P26371	KRA59_HUMAN	F	64	ENSP00000431443:S64F	ENSP00000431443:S64F	S	+	2	0	KRTAP5-9	70937542	0.832000	0.29368	0.987000	0.45799	0.076000	0.17211	-0.079000	0.11357	0.987000	0.38709	0.442000	0.29010	TCC		0.632	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			6	211	0	0	0	0.248553	0	6	211				
DNAH9	1770	broad.mit.edu	37	17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:11790187G>A	ENST00000262442.4	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3673					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E3673K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGGCCCGAGAGCACTACCG	0.527																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.E3673K(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11017-11019)Gag>Aag		dynein, axonemal, heavy chain 9							93.0	81.0	85.0					17																	11790187		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11790187G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11017G>A	17.37:g.11790187G>A	ENSP00000262442:p.Glu3673Lys					DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K	p.E3673K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	57	11085	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3673					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11017G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793065	0.96952	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000361801	D;D	0.87412	-2.25;-2.25	5.33	5.33	0.75918	.	0.096519	0.64402	D	0.000001	D	0.93488	0.7922	M	0.88842	2.985	0.80722	D	1	D;D	0.62365	0.978;0.991	P;P	0.56563	0.53;0.801	D	0.94359	0.7586	10	0.87932	D	0	.	19.2213	0.93797	0.0:0.0:1.0:0.0	.	26;3673	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	K	3673;3673;2255;26	ENSP00000262442:E3673K;ENSP00000414874:E3673K	ENSP00000262442:E3673K	E	+	1	0	DNAH9	11730912	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.601000	0.98297	2.775000	0.95449	0.655000	0.94253	GAG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	180	0	0	0	0.248553	0	7	180				
CREM	1390	broad.mit.edu	37	10	35500241	35500241	+	Intron	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr10:35500241G>A	ENST00000395895.2	+	10	1100				CREM_ENST00000374728.3_Intron|CREM_ENST00000488741.1_Missense_Mutation_p.R75H|CREM_ENST00000488328.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.R258H|CREM_ENST00000395887.3_Intron|CREM_ENST00000474931.1_Missense_Mutation_p.R85H|CREM_ENST00000374721.3_Missense_Mutation_p.R242H|CREM_ENST00000474362.1_Intron|CREM_ENST00000473940.1_Missense_Mutation_p.R93H|CREM_ENST00000344351.5_Missense_Mutation_p.R68H|CREM_ENST00000468236.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.R68H|CREM_ENST00000333809.8_Missense_Mutation_p.R321H|CREM_ENST00000337656.4_Missense_Mutation_p.R272H|CREM_ENST00000354759.3_Missense_Mutation_p.R221H|CREM_ENST00000490511.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.R209H|CREM_ENST00000345491.3_Intron|RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000356917.5_Missense_Mutation_p.R81H|CREM_ENST00000463960.1_Intron|CREM_ENST00000342105.3_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R272H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTGAAAATCGTGTGGCTGTG	0.443																																						ENST00000333809.8																			1	Substitution - Missense(1)	p.R272H(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(961-963)cGt>cAt		cAMP responsive element modulator							116.0	108.0	111.0					10																	35500241		2203	4300	6503	SO:0001627	intron_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35500241G>A		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.939-343G>A	10.37:g.35500241G>A						CREM_ENST00000488741.1_Missense_Mutation_p.R75H|CREM_ENST00000488328.1_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.R209H|CREM_ENST00000474931.1_Missense_Mutation_p.R85H|CREM_ENST00000473940.1_Missense_Mutation_p.R93H|CREM_ENST00000354759.3_Missense_Mutation_p.R221H|CREM_ENST00000395887.3_Intron|CREM_ENST00000490511.1_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.R81H|CREM_ENST00000429130.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.R68H|CREM_ENST00000463960.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.R258H|CREM_ENST00000374728.3_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000344351.5_Missense_Mutation_p.R68H|CREM_ENST00000468236.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374721.3_Missense_Mutation_p.R242H|CREM_ENST00000337656.4_Missense_Mutation_p.R272H	p.R321H	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN			8	1016	+			333					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37	c.962G>A		.	.	.	.	.	.	.	.	.	.	G	21.5	4.161795	0.78226	.	.	ENSG00000095794	ENST00000460270;ENST00000354759;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000462058;ENST00000374721;ENST00000473940;ENST00000356917;ENST00000488741;ENST00000474931;ENST00000344351	T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0;1.0	D	0.88529	0.3101	10	0.87932	D	0	.	19.7263	0.96165	0.0:0.0:1.0:0.0	.	85;75;81;93;209;272;221	A8K014;A8K6A1;A8K3J7;Q5W1B2;A8MPQ2;E9PHM1;Q5W1B0	.;.;.;.;.;.;.	H	68;221;321;258;209;272;242;305;93;81;75;85;68	ENSP00000420437:R68H;ENSP00000346804:R221H;ENSP00000333055:R321H;ENSP00000409220:R258H;ENSP00000363866:R209H;ENSP00000337138:R272H;ENSP00000420681:R93H;ENSP00000349387:R81H;ENSP00000419075:R75H;ENSP00000417562:R85H;ENSP00000344365:R68H	ENSP00000333055:R321H	R	+	2	0	CREM	35540247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.895000	0.87343	2.664000	0.90586	0.650000	0.86243	CGT		0.443	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		33	111	0	0	0	0.740014	0	33	111				
PPP2R2B	5521	broad.mit.edu	37	5	145969623	145969623	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:145969623C>T	ENST00000394413.3	-	9	1789	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D407N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D473N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D465N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D413N|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D407N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D410N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D396N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	407					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.D410N(1)|p.D465N(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGACTGTCGACACTGATC	0.478																																						ENST00000394413.3																			2	Substitution - Missense(2)	p.D410N(1)|p.D465N(1)	prostate(2)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1219-1221)Gac>Aac		protein phosphatase 2, regulatory subunit B, beta							169.0	177.0	174.0					5																	145969623		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969623C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1219G>A	5.37:g.145969623C>T	ENSP00000377935:p.Asp407Asn					PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D473N|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D465N|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D407N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D410N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D413N	p.D407N			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1789	-			407					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.1219G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004272	0.74932	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.089939	0.85682	D	0.000000	T	0.52789	0.1756	M	0.73372	2.23	0.80722	D	1	D;D;D;D;P;D	0.58620	0.98;0.98;0.98;0.983;0.636;0.98	P;P;P;P;B;P	0.57502	0.741;0.822;0.822;0.728;0.171;0.822	T	0.32824	-0.9892	10	0.35671	T	0.21	-9.5699	20.8794	0.99867	0.0:1.0:0.0:0.0	.	465;413;396;473;410;407	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	N	407;396;473;407;407;407;396;410;413;465	ENSP00000377935:D407N;ENSP00000431320:D396N;ENSP00000377936:D473N;ENSP00000377933:D407N;ENSP00000349283:D407N;ENSP00000398779:D407N;ENSP00000377932:D396N;ENSP00000336591:D410N;ENSP00000421396:D413N;ENSP00000377931:D465N	ENSP00000336591:D410N	D	-	1	0	AC011357.1	145949816	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC		0.478	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		18	509	0	0	0	0.575678	0	18	509				
CEMIP	57214	broad.mit.edu	37	15	81234649	81234649	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:81234649C>T	ENST00000394685.3	+	27	4089	c.3670C>T	c.(3670-3672)Cac>Tac	p.H1224Y	KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1224					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.H1224Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACTTCTTCCACCTCTGGAA	0.478																																						ENST00000394685.3																			1	Substitution - Missense(1)	p.H1224Y(1)	prostate(1)	breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3670-3672)Cac>Tac		KIAA1199							100.0	97.0	98.0					15																	81234649		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81234649C>T																												ENST00000394685.3:c.3670C>T	15.37:g.81234649C>T	ENSP00000378177:p.His1224Tyr					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y	p.H1224Y			Q8WUJ3	K1199_HUMAN			27	4089	+			1224					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3670C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451349	0.84209	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.65732	-0.17;-0.17;-0.17	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69823	2.125	0.54753	D	0.999989	D	0.69078	0.997	D	0.75484	0.986	T	0.78748	-0.2083	10	0.52906	T	0.07	-38.7501	20.2207	0.98324	0.0:1.0:0.0:0.0	.	1224	Q8WUJ3	K1199_HUMAN	Y	1224	ENSP00000220244:H1224Y;ENSP00000378177:H1224Y;ENSP00000348583:H1224Y	ENSP00000220244:H1224Y	H	+	1	0	KIAA1199	79021704	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.747000	0.74872	2.790000	0.95986	0.591000	0.81541	CAC		0.478	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			47	173	0	0	0	0.870114	0	47	173				
SYN3	8224	broad.mit.edu	37	22	33260926	33260926	+	Silent	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:33260926T>C	ENST00000358763.2	-	6	929	c.687A>G	c.(685-687)acA>acG	p.T229T	SYN3_ENST00000332840.5_Silent_p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	229	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.T229T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGGGAAAAATGTTTGCTCCA	0.438																																						ENST00000358763.2																			1	Substitution - coding silent(1)	p.T229T(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(685-687)acA>acG		synapsin III							213.0	214.0	214.0					22																	33260926		2203	4300	6503	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33260926T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.687A>G	22.37:g.33260926T>C						SYN3_ENST00000332840.5_Silent_p.T229T	p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			6	929	-			229			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.687A>G	CCDS13908.1																																																																																				0.438	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	371	0	0	0	0.500413	0	15	371				
HNRNPUL1	11100	broad.mit.edu	37	19	41807592	41807592	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:41807592C>T	ENST00000392006.3	+	11	1843	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A468V|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A557V|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A443V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A457V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	557	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A557V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGATCATGCGGTCTTAGAA	0.483																																						ENST00000392006.3																			1	Substitution - Missense(1)	p.A557V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1669-1671)gCg>gTg		heterogeneous nuclear ribonucleoprotein U-like 1							109.0	91.0	97.0					19																	41807592		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41807592C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1670C>T	19.37:g.41807592C>T	ENSP00000375863:p.Ala557Val					HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A468V|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A557V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A443V|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A457V	p.A557V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			11	1843	+			557			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1670C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719497	0.96839	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.49571	1.57	0.80722	D	1	P;P;D;D;P;P	0.89917	0.951;0.951;0.994;1.0;0.9;0.939	P;P;P;D;P;P	0.85130	0.818;0.818;0.841;0.997;0.751;0.723	T	0.59101	-0.7517	10	0.59425	D	0.04	-12.4957	19.3958	0.94607	0.0:1.0:0.0:0.0	.	468;457;557;443;557;457	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	V	457;557;443;468	ENSP00000340857:A457V;ENSP00000375863:A557V;ENSP00000367460:A443V;ENSP00000263367:A468V	ENSP00000263367:A468V	A	+	2	0	HNRNPUL1	46499432	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.771000	0.85420	2.879000	0.98667	0.650000	0.86243	GCG		0.483	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		4	150	0	0	0	0.184627	0	4	150				
SNHG14	104472715	broad.mit.edu	37	15	25486926	25486926	+	RNA	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:25486926G>T	ENST00000453082.2	+	0	2156				SNORD115-40_ENST00000606510.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-38_ENST00000365037.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGTCCTGAAGAGAGGTGATG	0.478																																						ENST00000453082.2																			0																				363.0	368.0	367.0					15																	25486926		876	1991	2867			0							g.chr15:25486926G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486926G>T						SNORD115-39_ENST00000363694.1_RNA		NR_003343.1						0	2156	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.478	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			11	536	1	0	1.58986e-06	0.361761	1.85484e-06	11	536				
FMOD	2331	broad.mit.edu	37	1	203316790	203316790	+	Silent	SNP	C	C	T	rs374060031		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203316790C>T	ENST00000354955.4	-	2	1072	c.609G>A	c.(607-609)acG>acA	p.T203T	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	203					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.T203T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTACAAGGCCGTGAGGTTCT	0.582																																						ENST00000354955.4																			1	Substitution - coding silent(1)	p.T203T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(607-609)acG>acA		fibromodulin		C		1,4405	2.1+/-5.4	0,1,2202	112.0	112.0	112.0		609	-10.4	0.1	1		112	0,8600		0,0,4300	no	coding-synonymous	FMOD	NM_002023.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		203/377	203316790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316790C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.609G>A	1.37:g.203316790C>T						FMOD_ENST00000464898.1_5'UTR	p.T203T	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1072	-			203					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.609G>A	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	3.726	-0.056527	0.07362	2.27E-4	0.0	ENSG00000122176	ENST00000539467	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.61048	0.2316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77515	-0.2559	5	0.56958	D	0.05	-18.9309	10.3996	0.44222	0.0791:0.5638:0.1607:0.1964	.	.	.	.	Q	182	.	ENSP00000438680:R182Q	R	-	2	0	FMOD	201583413	0.000000	0.05858	0.145000	0.22337	0.812000	0.45895	-8.119000	0.00024	-3.403000	0.00170	-1.004000	0.02495	CGG		0.582	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		73	242	0	0	0	0.870114	0	73	242				
ZC3H11A	9877	broad.mit.edu	37	1	203819752	203819752	+	Silent	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203819752G>A	ENST00000545588.1	+	15	5876	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	ZC3H11A_ENST00000367214.1_Silent_p.V683V|ZC3H11A_ENST00000367210.1_Silent_p.V683V|ZC3H11A_ENST00000332127.4_Silent_p.V683V|ZC3H11A_ENST00000367212.3_Silent_p.V683V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	683					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V683V(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGCCGCTGTGAAGCCACTCA	0.498																																						ENST00000545588.1																			1	Substitution - coding silent(1)	p.V683V(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2047-2049)gtG>gtA		zinc finger CCCH-type containing 11A							82.0	81.0	81.0					1																	203819752		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819752G>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2049G>A	1.37:g.203819752G>A						ZC3H11A_ENST00000367214.1_Silent_p.V683V|ZC3H11A_ENST00000367212.3_Silent_p.V683V|ZC3H11A_ENST00000332127.4_Silent_p.V683V|ZC3H11A_ENST00000367210.1_Silent_p.V683V	p.V683V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5876	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		683					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.2049G>A	CCDS30978.1																																																																																				0.498	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	52	0	0	0	0.608945	0	5	52				
MAP1B	4131	broad.mit.edu	37	5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	rs372421201		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:71493006G>A	ENST00000296755.7	+	5	4122	c.3824G>A	c.(3823-3825)cGt>cAt	p.R1275H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1275H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0				Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - Missense(1)	p.R1275H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3823-3825)cGt>cAt		microtubule-associated protein 1B		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	64.0	64.0		3824	5.8	1.0	5		64	0,8600		0,0,4300	no	missense	MAP1B	NM_005909.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1275/2469	71493006	1,13005	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493006G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3824G>A	5.37:g.71493006G>A	ENSP00000296755:p.Arg1275His						p.R1275H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4122	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1275					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.3824G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976924	0.53720	2.27E-4	0.0	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.07458	0.0188	N	0.08118	0	0.47153	D	0.999338	D;D	0.76494	0.999;0.998	P;P	0.61275	0.886;0.862	T	0.52208	-0.8606	10	0.56958	D	0.05	-10.8595	20.032	0.97543	0.0:0.0:1.0:0.0	.	1149;1275	A2BDK6;P46821	.;MAP1B_HUMAN	H	1275	ENSP00000296755:R1275H	ENSP00000296755:R1275H	R	+	2	0	MAP1B	71528762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.924000	0.56476	2.743000	0.94032	0.655000	0.94253	CGT		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		15	131	0	0	0	0.500413	0	15	131				
SLC6A1	6529	broad.mit.edu	37	3	11078641	11078641	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr3:11078641G>T	ENST00000287766.4	+	16	2210	c.1789G>T	c.(1789-1791)Gcc>Tcc	p.A597S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A419S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	597					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A597S(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CAGCAAGGAGGCCTACATCTA	0.627																																						ENST00000287766.4																			1	Substitution - Missense(1)	p.A597S(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1789-1791)Gcc>Tcc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						56.0	54.0	55.0					3																	11078641		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11078641G>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1789G>T	3.37:g.11078641G>T	ENSP00000287766:p.Ala597Ser					SLC6A1_ENST00000536032.1_Missense_Mutation_p.A419S	p.A597S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	16	2210	+		Ovarian(110;0.0392)	597					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1789G>T	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348977	0.61183	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74947	-0.76;-0.89	4.15	4.15	0.48705	.	0.189542	0.24978	U	0.034097	T	0.56934	0.2019	N	0.08118	0	0.51233	D	0.999918	P	0.42908	0.793	B	0.38842	0.283	T	0.66204	-0.5982	10	0.52906	T	0.07	.	16.4418	0.83903	0.0:0.0:1.0:0.0	.	597	P30531	SC6A1_HUMAN	S	597;419	ENSP00000287766:A597S;ENSP00000445171:A419S	ENSP00000287766:A597S	A	+	1	0	SLC6A1	11053641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.693000	0.84214	1.865000	0.54081	0.467000	0.42956	GCC		0.627	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	67	1	0	0.0293803	0.248553	0.0316404	7	67				
ADAM10	102	broad.mit.edu	37	15	58902623	58902623	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:58902623T>C	ENST00000260408.3	-	14	2341	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	633	Cys-rich.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.N633S(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTAAAATCGTTGCAAGGGGA	0.478																																						ENST00000260408.3																			1	Substitution - Missense(1)	p.N633S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1897-1899)aAc>aGc		ADAM metallopeptidase domain 10							112.0	104.0	107.0					15																	58902623		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58902623T>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1898A>G	15.37:g.58902623T>C	ENSP00000260408:p.Asn633Ser					ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S	p.N633S	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	14	2341	-			633			Cys-rich.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1898A>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842622	0.91197	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.26067	1.76;3.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.64997	1.995	0.80722	D	1	P;B;P	0.38551	0.636;0.45;0.636	B;B;B	0.30855	0.121;0.084;0.084	T	0.04961	-1.0915	10	0.31617	T	0.26	-32.899	15.6683	0.77252	0.0:0.0:0.0:1.0	.	332;452;633	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	S	633;452;332	ENSP00000260408:N633S;ENSP00000379444:N332S	ENSP00000260408:N633S	N	-	2	0	ADAM10	56689915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.154000	0.67381	0.533000	0.62120	AAC		0.478	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	161	0	0	0	0.248553	0	5	161				
LNX1	84708	broad.mit.edu	37	4	54424152	54424152	+	Intron	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:54424152C>A	ENST00000263925.7	-	2	695				FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_De_novo_Start_InFrame	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGTGCTGCCTTCTCCCTGG	0.527																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32								ligand of numb-protein X 1, E3 ubiquitin protein ligase							107.0	94.0	98.0					4																	54424152		2203	4300	6503	SO:0001627	intron_variant	84708					cytoplasm	zinc ion binding	g.chr4:54424152C>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.380+15637G>T	4.37:g.54424152C>A						FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Intron		NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		0	232	-	all_neural(26;0.153)							Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Translation_Start_Site	SNP	ENST00000263925.7	37		CCDS47057.1																																																																																				0.527	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			3	49	1	0	0.115264	0.115264	0.121788	3	49				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	167	0	0	0	0.217242	0	5	167				
ADAMTS1	9510	broad.mit.edu	37	21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T	rs201769018		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:28211980C>T	ENST00000284984.3	-	7	2408	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	652	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V652I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTGAGACGCCAGCGTAC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16223	0.0		0.001	False		,,,				2504	0.0					ENST00000284984.2																			2	Substitution - Missense(2)	p.V652I(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1954-1956)Gtc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 1							127.0	121.0	123.0					21																	28211980		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28211980C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1954G>A	21.37:g.28211980C>T	ENSP00000284984:p.Val652Ile						p.V652I	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	7	2408	-		Breast(209;0.000962)	652			Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1954G>A	CCDS33524.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.29	1.308055	0.23821	.	.	ENSG00000154734	ENST00000284984	T	0.59502	0.26	5.35	5.35	0.76521	.	.	.	.	.	T	0.52645	0.1747	L	0.52905	1.665	0.54753	D	0.999989	P	0.45396	0.857	B	0.40677	0.337	T	0.50118	-0.8865	9	0.30854	T	0.27	.	13.8532	0.63510	0.0:0.9272:0.0:0.0728	.	652	Q9UHI8	ATS1_HUMAN	I	652	ENSP00000284984:V652I	ENSP00000284984:V652I	V	-	1	0	ADAMTS1	27133851	1.000000	0.71417	0.931000	0.37212	0.048000	0.14542	4.517000	0.60503	2.941000	0.99782	0.655000	0.94253	GTC		0.468	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			20	299	0	0	0	0.575678	0	20	299				
KIAA0355	9710	broad.mit.edu	37	19	34818760	34818760	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:34818760G>A	ENST00000299505.6	+	5	1804	c.931G>A	c.(931-933)Gca>Aca	p.A311T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	311								p.A311T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGATTGAAGCAAGTTTGCA	0.453																																						ENST00000299505.6																			1	Substitution - Missense(1)	p.A311T(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(931-933)Gca>Aca		KIAA0355							85.0	92.0	90.0					19																	34818760		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34818760G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.931G>A	19.37:g.34818760G>A	ENSP00000299505:p.Ala311Thr						p.A311T	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			5	1804	+	Esophageal squamous(110;0.162)		311					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.931G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817855	0.71028	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.46	4.43	0.53597	.	0.114427	0.64402	D	0.000016	T	0.38825	0.1055	N	0.08118	0	0.47621	D	0.999475	B	0.19331	0.035	B	0.16289	0.015	T	0.31024	-0.9958	9	0.87932	D	0	-17.3952	14.1897	0.65630	0.072:0.0:0.928:0.0	.	311	O15063	K0355_HUMAN	T	311;14	.	ENSP00000299505:A311T	A	+	1	0	KIAA0355	39510600	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.159000	0.64923	1.327000	0.45338	-0.277000	0.10078	GCA		0.453	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		28	183	0	0	0	0.717897	0	28	183				
ASB2	51676	broad.mit.edu	37	14	94401108	94401108	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:94401108C>T	ENST00000315988.4	-	8	2146	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	ASB2_ENST00000555019.1_Missense_Mutation_p.R601Q	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	553	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.R553Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AACCCGCAGTCGGCAAAGGTG	0.488																																						ENST00000555019.1																			2	Substitution - Missense(2)	p.R553Q(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1801-1803)cGa>cAa		ankyrin repeat and SOCS box containing 2							77.0	78.0	78.0					14																	94401108		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94401108C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1658G>A	14.37:g.94401108C>T	ENSP00000320675:p.Arg553Gln					ASB2_ENST00000315988.4_Missense_Mutation_p.R553Q	p.R601Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	10	2232	-		all_cancers(154;0.13)	553					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1802G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672173	0.96754	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	D;D	0.85484	-1.99;-1.99	5.44	5.44	0.79542	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95513	0.8542	H	0.97611	4.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96291	0.9214	10	0.51188	T	0.08	.	19.2525	0.93930	0.0:1.0:0.0:0.0	.	601;553	B4E166;Q96Q27	.;ASB2_HUMAN	Q	601;569;553	ENSP00000451575:R601Q;ENSP00000320675:R553Q	ENSP00000320675:R553Q	R	-	2	0	ASB2	93470861	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.336000	0.79245	2.549000	0.85964	0.491000	0.48974	CGA		0.488	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			46	109	0	0	0	0.870114	0	46	109				
LLGL1	3996	broad.mit.edu	37	17	18137336	18137336	+	Silent	SNP	C	C	T	rs374218881		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:18137336C>T	ENST00000316843.4	+	6	657	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	187					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.D187D(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCGTGCCAGACGACTACCGCT	0.652																																						ENST00000316843.4																			2	Substitution - coding silent(2)	p.D187D(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(559-561)gaC>gaT		lethal giant larvae homolog 1 (Drosophila)		C		0,4406		0,0,2203	27.0	31.0	30.0		561	-11.7	0.0	17		30	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	LLGL1	NM_004140.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		187/1065	18137336	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137336C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.561C>T	17.37:g.18137336C>T							p.D187D	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			6	657	+	all_neural(463;0.228)		187					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.561C>T	CCDS32586.1																																																																																				0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			5	32	0	0	0	0.217242	0	5	32				
R3HDM2	22864	broad.mit.edu	37	12	57662763	57662763	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr12:57662763C>A	ENST00000347140.3	-	17	2165	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000546843.1_5'Flank|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S606I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	592	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S253I(1)|p.S592I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCCCCCATGCTGCTCCTCTG	0.587																																						ENST00000402412.1																			2	Substitution - Missense(2)	p.S253I(1)|p.S592I(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1816-1818)aGc>aTc		R3H domain containing 2							111.0	106.0	107.0					12																	57662763		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57662763C>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1775G>T	12.37:g.57662763C>A	ENSP00000317903:p.Ser592Ile					R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|R3HDM2_ENST00000393811.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|RP11-123K3.4_ENST00000548184.1_RNA	p.S606I			Q9Y2K5	R3HD2_HUMAN			17	2207	-			592			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1817G>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565174	0.65651	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.07	3.21	0.36854	.	0.341865	0.38164	N	0.001798	T	0.32133	0.0819	L	0.39898	1.24	0.32805	D	0.50063	P;P;P;P	0.48503	0.877;0.641;0.468;0.911	B;B;B;B	0.42422	0.276;0.216;0.216;0.387	T	0.46898	-0.9158	10	0.54805	T	0.06	-0.8964	6.8321	0.23915	0.0:0.6899:0.1484:0.1617	.	626;606;592;319	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	I	319;319;592;606;592;287;357;626	ENSP00000409146:S319I;ENSP00000377400:S319I;ENSP00000317903:S592I;ENSP00000385839:S606I;ENSP00000351784:S592I;ENSP00000408536:S287I;ENSP00000394676:S357I;ENSP00000385169:S626I	ENSP00000317903:S592I	S	-	2	0	R3HDM2	55949030	0.879000	0.30193	1.000000	0.80357	0.995000	0.86356	0.485000	0.22324	0.819000	0.34492	0.655000	0.94253	AGC		0.587	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		5	255	1	0	6.5536e-12	0.278610	8.15559e-12	5	255				
ZNF600	162966	broad.mit.edu	37	19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:53270592A>C	ENST00000338230.3	-	3	684	c.417T>G	c.(415-417)taT>taG	p.Y139*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y139*(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTATTCCCATAGTTATTAG	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			2	Substitution - Nonsense(2)	p.Y139*(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(415-417)taT>taG		zinc finger protein 600							108.0	114.0	112.0					19																	53270592		2200	4300	6500	SO:0001587	stop_gained	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270592A>C	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.417T>G	19.37:g.53270592A>C	ENSP00000344791:p.Tyr139*						p.Y139*	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	684	-			139					Q6MZR0	Nonsense_Mutation	SNP	ENST00000338230.3	37	c.417T>G	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	17.45	3.393180	0.62066	.	.	ENSG00000189190	ENST00000338230	.	.	.	1.15	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.5436	0.12071	1.0:0.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000344791:Y139X	Y	-	3	2	ZNF600	57962404	0.119000	0.22226	0.001000	0.08648	0.002000	0.02628	0.566000	0.23593	0.813000	0.34350	0.248000	0.18094	TAT		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		5	390	0	0	0	0.184627	0	5	390				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	193	0	0	0	0.217242	0	4	193				
ABCC10	89845	broad.mit.edu	37	6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:43403589G>A	ENST00000372530.4	+	5	1924	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTTGGACCGGATCCAGCTT	0.567																																						ENST00000244533.3																			2	Substitution - Missense(2)	p.R527Q(2)	prostate(1)|lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1579-1581)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							113.0	102.0	106.0					6																	43403589		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403589G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1709G>A	6.37:g.43403589G>A	ENSP00000361608:p.Arg570Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	p.R527Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1939	+	all_lung(25;0.00536)		570			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1580G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126887	0.94429	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97161	-4.27;-3.92;-3.92	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	126;570;527	ENSP00000361593:R126Q;ENSP00000361608:R570Q;ENSP00000244533:R527Q	ENSP00000244533:R527Q	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	177	0	0	0	0.217242	0	5	177				
BAI3	577	broad.mit.edu	37	6	69348738	69348738	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:69348738G>T	ENST00000370598.1	+	3	992	c.171G>T	c.(169-171)tgG>tgT	p.W57C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	57	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W57C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCACTTGGACGCTGGAAA	0.393																																						ENST00000370598.1																			2	Substitution - Missense(2)	p.W57C(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(169-171)tgG>tgT		brain-specific angiogenesis inhibitor 3							73.0	76.0	75.0					6																	69348738		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69348738G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.171G>T	6.37:g.69348738G>T	ENSP00000359630:p.Trp57Cys						p.W57C	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	992	+		all_lung(197;0.212)	57			CUB.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.171G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068964	0.55539	.	.	ENSG00000135298	ENST00000370598	T	0.70869	-0.52	5.49	5.49	0.81192	CUB (1);	0.000000	0.64402	D	0.000001	T	0.80076	0.4557	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.80924	-0.1165	10	0.87932	D	0	.	19.7289	0.96175	0.0:0.0:1.0:0.0	.	57	O60242	BAI3_HUMAN	C	57	ENSP00000359630:W57C	ENSP00000359630:W57C	W	+	3	0	BAI3	69405459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.737000	0.93849	0.650000	0.86243	TGG		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	226	1	0	0.000602214	0.184627	0.000688245	5	226				
SHANK1	50944	broad.mit.edu	37	19	51219979	51219979	+	Silent	SNP	G	G	A	rs545121253		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D66D(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTGGGCGTCGTCTGGGACGG	0.672																																						ENST00000293441.1																			2	Substitution - coding silent(2)	p.D66D(2)	prostate(1)|kidney(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(196-198)gaC>gaT		SH3 and multiple ankyrin repeat domains 1							81.0	68.0	72.0					19																	51219979		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219979G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.198C>T	19.37:g.51219979G>A						SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	216	-		all_neural(266;0.057)	66					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.198C>T	CCDS12799.1																																																																																				0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	141	0	0	0	0.150653	0	4	141				
POF1B	79983	broad.mit.edu	37	X	84561266	84561266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:84561266G>T	ENST00000262753.4	-	12	1383	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	413						tight junction (GO:0005923)		p.S413*(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCCATGTCTGATAGTGTATG	0.343																																						ENST00000262753.4																			2	Substitution - Nonsense(2)	p.S413*(2)	prostate(2)	central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1237-1239)tCa>tAa		premature ovarian failure, 1B							166.0	138.0	147.0					X																	84561266		2203	4300	6503	SO:0001587	stop_gained	79983						actin binding	g.chrX:84561266G>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1238C>A	X.37:g.84561266G>T	ENSP00000262753:p.Ser413*					POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			12	1383	-			413					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Nonsense_Mutation	SNP	ENST00000262753.4	37	c.1238C>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	g	38	6.679839	0.97755	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	.	.	.	5.88	5.88	0.94601	.	0.281536	0.37136	N	0.002221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0049	12.1679	0.54141	0.0:0.1672:0.8328:0.0	.	.	.	.	X	413	.	ENSP00000262753:S413X	S	-	2	0	POF1B	84447922	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	2.806000	0.47947	2.480000	0.83734	0.597000	0.82753	TCA		0.343	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		50	155	1	0	1.30409e-13	0.870114	1.65975e-13	50	155				
MARS2	92935	broad.mit.edu	37	2	198570300	198570300	+	Silent	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:198570300G>T	ENST00000282276.6	+	1	214	c.171G>T	c.(169-171)gcG>gcT	p.A57A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	57					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.A57A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGAACGCGGCGCCGCACATCG	0.647																																						ENST00000282276.6																			1	Substitution - coding silent(1)	p.A57A(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(169-171)gcG>gcT		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)																																			SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570300G>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.171G>T	2.37:g.198570300G>T						AC011997.1_ENST00000409845.1_Intron	p.A57A	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	214	+			57					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.171G>T	CCDS33358.1																																																																																				0.647	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		5	47	1	0	0.014758	0.184627	0.0165289	5	47				
ZNF420	147923	broad.mit.edu	37	19	37618589	37618589	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:37618589T>A	ENST00000337995.3	+	5	911	c.696T>A	c.(694-696)ttT>ttA	p.F232L	ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F232L(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCCTTTATTCGTAGCT	0.368																																						ENST00000337995.3																			1	Substitution - Missense(1)	p.F232L(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(694-696)ttT>ttA		zinc finger protein 420							54.0	58.0	57.0					19																	37618589		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618589T>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.696T>A	19.37:g.37618589T>A	ENSP00000338770:p.Phe232Leu					ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron	p.F232L	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	911	+			232					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.696T>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171771	0.57584	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.46063	0.88;0.88	3.98	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63815	0.2543	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67385	-0.5684	9	0.87932	D	0	.	7.6394	0.28284	0.0:0.1087:0.0:0.8913	.	232	Q8TAQ5	ZN420_HUMAN	L	232	ENSP00000306102:F232L;ENSP00000338770:F232L	ENSP00000306102:F232L	F	+	3	2	ZNF420	42310429	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.865000	0.04250	1.663000	0.50791	0.533000	0.62120	TTT		0.368	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		11	203	0	0	0	0.361761	0	11	203				
EFCAB1	79645	broad.mit.edu	37	8	49641698	49641698	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr8:49641698T>C	ENST00000262103.3	-	5	559	c.479A>G	c.(478-480)gAc>gGc	p.D160G	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	160	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D160G(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CCCATCATGGTCATGATCCTA	0.408																																						ENST00000433756.1																			1	Substitution - Missense(1)	p.D160G(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(322-324)gAc>gGc		EF-hand calcium binding domain 1							111.0	94.0	100.0					8																	49641698		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49641698T>C		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.479A>G	8.37:g.49641698T>C	ENSP00000262103:p.Asp160Gly					EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	p.D108G	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			4	482	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	160			EF-hand 2.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.323A>G	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288960|4.288960	0.80914|0.80914	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.09|5.09	5.09|5.09	0.68999|0.68999	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87107|.	0.6095|.	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|.	0.90859|.	0.4737|.	9|.	.|.	.|.	.|.	.|.	12.8684|12.8684	0.57951|0.57951	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	108;160|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	G|W	108;160;160;108|26;77	ENSP00000400873:D108G;ENSP00000262103:D160G;ENSP00000430765:D108G|.	.|.	D|X	-|-	2|3	0|0	EFCAB1|EFCAB1	49804251|49804251	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.893000|0.893000	0.52053|0.52053	7.560000|7.560000	0.82277|0.82277	2.134000|2.134000	0.65973|0.65973	0.374000|0.374000	0.22700|0.22700	GAC|TGA		0.408	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		3	151	0	0	0	0.150653	0	3	151				
AOX1	316	broad.mit.edu	37	2	201468741	201468741	+	Splice_Site	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:201468741C>A	ENST00000374700.2	+	8	831	c.590C>A	c.(589-591)aCa>aAa	p.T197K		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	197					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.T197K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTTTTTAGACAAGTCCAAAA	0.383																																						ENST00000374700.2																			1	Substitution - Missense(1)	p.T197K(1)	prostate(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.e8-1		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						65.0	65.0	65.0					2																	201468741		2203	4300	6503	SO:0001630	splice_region_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468741C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.589-1C>A	2.37:g.201468741C>A							p.T197_splice	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			8	831	+			197					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Splice_Site	SNP	ENST00000374700.2	37	c.588_splice	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.788435	0.00628	.	.	ENSG00000138356	ENST00000374700	T	0.53857	0.6	5.46	1.74	0.24563	[2Fe-2S]-binding (2);	0.671285	0.14912	N	0.291178	T	0.41282	0.1152	M	0.67700	2.07	0.23107	N	0.998289	B	0.14012	0.009	B	0.14578	0.011	T	0.39820	-0.9595	10	0.05959	T	0.93	-6.6264	5.5637	0.17158	0.1246:0.4692:0.0:0.4062	.	197	Q06278	ADO_HUMAN	K	197	ENSP00000363832:T197K	ENSP00000363832:T197K	T	+	2	0	AOX1	201176986	0.000000	0.05858	0.152000	0.22495	0.016000	0.09150	-0.286000	0.08399	0.145000	0.18977	-0.150000	0.13652	ACA		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	10	146	1	0	1.76689e-08	0.335167	2.151e-08	10	146				
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151821286G>A	ENST00000370306.2	+	9	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	481					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.E481K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTCCTACCGAAATCCGCAA	0.547																																						ENST00000370306.2																			2	Substitution - Missense(2)	p.E481K(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1441-1443)Gaa>Aaa		gamma-aminobutyric acid (GABA) A receptor, theta							126.0	109.0	115.0					X																	151821286		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821286G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1441G>A	X.37:g.151821286G>A	ENSP00000359329:p.Glu481Lys						p.E481K	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1461	+	Acute lymphoblastic leukemia(192;6.56e-05)		481					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1441G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	3.112	-0.182412	0.06340	.	.	ENSG00000147402	ENST00000370306	T	0.77489	-1.1	4.59	-1.05	0.10036	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.657650	0.03269	N	0.184502	T	0.60353	0.2262	N	0.19112	0.55	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.37934	-0.9684	10	0.15499	T	0.54	.	4.5485	0.12092	0.5305:0.1754:0.2941:0.0	.	481	Q9UN88	GBRT_HUMAN	K	481	ENSP00000359329:E481K	ENSP00000359329:E481K	E	+	1	0	GABRQ	151571942	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.421000	0.07053	-0.358000	0.08162	0.600000	0.82982	GAA		0.547	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		4	161	0	0	0	0.184627	0	4	161				
NRIP1	8204	broad.mit.edu	37	21	16338592	16338592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:16338592G>T	ENST00000400202.1	-	3	2634	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	641	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S641*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACATGGATGACTGCATTCC	0.438																																						ENST00000400202.1																			1	Substitution - Nonsense(1)	p.S641*(1)	prostate(1)	cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1921-1923)tCa>tAa		nuclear receptor interacting protein 1							154.0	155.0	155.0					21																	16338592		2203	4300	6503	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338592G>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1922C>A	21.37:g.16338592G>T	ENSP00000383063:p.Ser641*					NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*	p.S641*			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2634	-			641			Repression domain 2.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.1922C>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	41	9.136693	0.99077	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.69	5.69	0.88448	.	0.147292	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.9401	17.1324	0.86729	0.0:0.1261:0.8739:0.0	.	.	.	.	X	641	.	ENSP00000327213:S641X	S	-	2	0	NRIP1	15260463	1.000000	0.71417	0.998000	0.56505	0.360000	0.29518	2.536000	0.45693	2.865000	0.98341	0.655000	0.94253	TCA		0.438	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		8	316	1	0	1.06961e-07	0.278610	1.27443e-07	8	316				
LRRC37A3	374819	broad.mit.edu	37	17	62856432	62856432	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:62856432C>T	ENST00000584306.1	-	11	4362	c.3832G>A	c.(3832-3834)Gct>Act	p.A1278T	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396T|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1278						integral component of membrane (GO:0016021)		p.A1278T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGAAATAGCGTGGGTTAAG	0.453																																						ENST00000584306.1																			1	Substitution - Missense(1)	p.A1278T(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3832-3834)Gct>Act		leucine rich repeat containing 37, member A3							97.0	99.0	98.0					17																	62856432		2203	4298	6501	SO:0001583	missense	374819					integral to membrane		g.chr17:62856432C>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3832G>A	17.37:g.62856432C>T	ENSP00000464535:p.Ala1278Thr					LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316T	p.A1278T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4362	-			1278					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3832G>A	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.512027	0.00984	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.55588	1.63;1.63;0.51	2.26	-2.81	0.05805	.	.	.	.	.	T	0.22399	0.0540	N	0.12569	0.235	0.09310	N	1	B;B	0.15719	0.008;0.014	B;B	0.08055	0.003;0.002	T	0.28839	-1.0031	9	0.02654	T	1	.	3.6515	0.08205	0.0:0.1736:0.485:0.3414	.	396;1278	B4DG20;O60309	.;L37A3_HUMAN	T	359;316;255;1278	ENSP00000383674:A316T;ENSP00000335617:A255T;ENSP00000325713:A1278T	ENSP00000325713:A1278T	A	-	1	0	LRRC37A3	60286894	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-1.077000	0.03416	-0.253000	0.09514	0.175000	0.17021	GCT		0.453	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		15	300	0	0	0	0.520397	0	15	300				
VSIG8	391123	broad.mit.edu	37	1	159827904	159827904	+	Missense_Mutation	SNP	G	G	A	rs112455697		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:159827904G>A	ENST00000368100.1	-	3	541	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1orf204_ENST00000368102.1_5'Flank|RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	136	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.R136W(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ATGACCTTCCGGGTGGCCATG	0.557																																						ENST00000368100.1																			1	Substitution - Missense(1)	p.R136W(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(406-408)Cgg>Tgg		V-set and immunoglobulin domain containing 8							95.0	79.0	85.0					1																	159827904		2203	4300	6503	SO:0001583	missense	391123					integral to membrane		g.chr1:159827904G>A		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.406C>T	1.37:g.159827904G>A	ENSP00000357080:p.Arg136Trp					RP11-190A12.7_ENST00000544342.1_Intron	p.R136W	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN			3	541	-	all_hematologic(112;0.0597)		136			Ig-like V-type 1.		Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	c.406C>T	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220387	0.58560	.	.	ENSG00000243284	ENST00000368100	T	0.50001	0.76	5.39	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051124	0.85682	D	0.000000	T	0.18593	0.0446	L	0.39245	1.2	0.47949	D	0.999556	B	0.18310	0.027	B	0.15484	0.013	T	0.07214	-1.0784	10	0.66056	D	0.02	.	6.2104	0.20626	0.0878:0.0:0.572:0.3403	.	136	Q5VU13	VSIG8_HUMAN	W	136	ENSP00000357080:R136W	ENSP00000357080:R136W	R	-	1	2	VSIG8	158094528	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	2.350000	0.44063	0.217000	0.20800	-0.314000	0.08810	CGG		0.557	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		32	75	0	0	0	0.740014	0	32	75				
ZNF454	285676	broad.mit.edu	37	5	178392359	178392359	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:178392359C>G	ENST00000320129.3	+	5	1257	c.954C>G	c.(952-954)caC>caG	p.H318Q	ZNF454_ENST00000519564.1_Missense_Mutation_p.H318Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H318Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTACCAAACACCAGAATATCC	0.393																																						ENST00000320129.3																			1	Substitution - Missense(1)	p.H318Q(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(952-954)caC>caG		zinc finger protein 454							54.0	57.0	56.0					5																	178392359		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392359C>G	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.954C>G	5.37:g.178392359C>G	ENSP00000326249:p.His318Gln					ZNF454_ENST00000519564.1_Missense_Mutation_p.H318Q	p.H318Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1257	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	318					Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.954C>G	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	C	8.237	0.805978	0.16467	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	D;D	0.86865	-2.18;-2.18	4.11	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000748	D	0.93861	0.8036	H	0.94306	3.52	0.31131	N	0.707735	D	0.89917	1.0	D	0.91635	0.999	D	0.90550	0.4508	10	0.87932	D	0	-6.8485	7.7422	0.28848	0.0:0.7154:0.0:0.2845	.	318	Q8N9F8	ZN454_HUMAN	Q	318	ENSP00000326249:H318Q;ENSP00000430354:H318Q	ENSP00000326249:H318Q	H	+	3	2	ZNF454	178324965	0.403000	0.25319	1.000000	0.80357	0.049000	0.14656	0.561000	0.23515	0.160000	0.19432	-0.482000	0.04802	CAC		0.393	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		4	142	0	0	0	0.150653	0	4	142				
PIKFYVE	200576	broad.mit.edu	37	2	209190217	209190217	+	Missense_Mutation	SNP	G	G	T	rs139157818	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:209190217G>T	ENST00000264380.4	+	20	2840	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	894					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.E894D(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCTGATTGAGGGACGAGGGC	0.493																																						ENST00000264380.4																			2	Substitution - Missense(2)	p.E894D(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2680-2682)gaG>gaT		phosphoinositide kinase, FYVE finger containing							107.0	105.0	106.0					2																	209190217		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190217G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2682G>T	2.37:g.209190217G>T	ENSP00000264380:p.Glu894Asp						p.E894D	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2840	+			894					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2682G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463971	0.26335	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31510	1.49;1.74	6.07	2.99	0.34606	.	0.143287	0.46145	N	0.000306	T	0.41880	0.1178	M	0.67953	2.075	0.80722	D	1	B;D	0.58268	0.022;0.982	B;D	0.67548	0.011;0.952	T	0.44817	-0.9303	10	0.13853	T	0.58	-19.5159	4.6078	0.12387	0.2843:0.0:0.5558:0.1599	.	894;838	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	D	894;470;838	ENSP00000264380:E894D;ENSP00000405736:E838D	ENSP00000264380:E894D	E	+	3	2	PIKFYVE	208898462	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	1.140000	0.31516	0.922000	0.37019	-0.133000	0.14855	GAG		0.493	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	262	1	0	0.0215528	0.217242	0.0236658	5	262				
OR10R2	343406	broad.mit.edu	37	1	158449980	158449980	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:158449980C>G	ENST00000368152.1	+	1	313	c.313C>G	c.(313-315)Cta>Gta	p.L105V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L105V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTCATCAATCTACTTTCTGT	0.438																																						ENST00000368152.1																			1	Substitution - Missense(1)	p.L105V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(313-315)Cta>Gta		olfactory receptor, family 10, subfamily R, member 2							343.0	291.0	309.0					1																	158449980		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449980C>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.313C>G	1.37:g.158449980C>G	ENSP00000357134:p.Leu105Val					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.L105V	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	313	+	all_hematologic(112;0.0378)		105					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.313C>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.604739	0.46423	.	.	ENSG00000198965	ENST00000368152	T	0.00408	7.54	4.28	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.89214	3.015	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43637	-0.9379	9	0.87932	D	0	.	8.4331	0.32771	0.0:0.8078:0.0:0.1922	.	105	Q8NGX6	O10R2_HUMAN	V	105	ENSP00000357134:L105V	ENSP00000357134:L105V	L	+	1	2	OR10R2	156716604	0.000000	0.05858	0.066000	0.19879	0.996000	0.88848	-0.697000	0.05098	0.981000	0.38548	0.655000	0.94253	CTA		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		6	603	0	0	0	0.217242	0	6	603				
TTN	7273	broad.mit.edu	37	2	179444120	179444120	+	Splice_Site	SNP	A	A	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:179444120A>T	ENST00000591111.1	-	270	62938	c.62714T>A	c.(62713-62715)gTg>gAg	p.V20905E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.V22546E|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20905	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Ig-like 112.				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)	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)		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)			ATCAGGAGCCACTGTAAAATA	0.378																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)	prostate(6)	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.e320-1		titin							35.0	34.0	34.0					2																	179444120		1840	4079	5919	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444120A>T	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.62714-1T>A	2.37:g.179444120A>T						TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606_splice|TTN_ENST00000342992.6_Splice_Site_p.V19978_splice|TTN_ENST00000342175.6_Splice_Site_p.V13673_splice|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.V13481_splice|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.V22546_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	67861	-			20905			Fibronectin type-III 63.		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	Splice_Site	SNP	ENST00000591111.1	37	c.67636_splice		.	.	.	.	.	.	.	.	.	.	A	12.50	1.955618	0.34471	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;0.02;0.01;-0.01	5.68	5.68	0.88126	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49236	0.1545	N	0.20986	0.625	0.58432	D	0.99999	P;P;P;P	0.50272	0.883;0.883;0.883;0.933	B;B;B;B	0.41860	0.368;0.368;0.368;0.368	T	0.56950	-0.7894	9	0.87932	D	0	.	12.0543	0.53524	0.9307:0.0:0.0693:0.0	.	13481;13606;13673;20905	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	19978;13481;13673;13606;13479	ENSP00000343764:V19978E;ENSP00000434586:V13481E;ENSP00000340554:V13673E;ENSP00000352154:V13606E	ENSP00000340554:V13673E	V	-	2	0	TTN	179152366	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.433000	0.80362	2.284000	0.76573	0.533000	0.62120	GTG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	4	76	0	0	0	0.184627	0	4	76				
TBC1D10A	83874	broad.mit.edu	37	22	30688748	30688748	+	Silent	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:30688748G>A	ENST00000215790.7	-	9	1307	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	TBC1D10A_ENST00000403477.3_Silent_p.C388C|TBC1D10A_ENST00000403362.1_Silent_p.C293C|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	381					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.C381C(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCGGGGAGCGGCACTGCAGCT	0.657																																						ENST00000215790.7																			1	Substitution - coding silent(1)	p.C381C(1)	prostate(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1141-1143)tgC>tgT		TBC1 domain family, member 10A							28.0	31.0	30.0					22																	30688748		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688748G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1143C>T	22.37:g.30688748G>A						RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Silent_p.C293C|TBC1D10A_ENST00000403477.3_Silent_p.C388C	p.C381C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1307	-			381					B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.1143C>T	CCDS13874.1																																																																																				0.657	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		4	55	0	0	0	0.184627	0	4	55				
HIST1H2BN	8341	broad.mit.edu	37	6	27806476	27806476	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:27806476A>C	ENST00000396980.3	+	1	37	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.K13Q|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K13Q(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGCCCCGAAGAAAGGCTCCAA	0.552																																						ENST00000606613.1																			1	Substitution - Missense(1)	p.K13Q(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(37-39)Aaa>Caa		histone cluster 1, H2bn							97.0	100.0	99.0					6																	27806476		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806476A>C	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.37A>C	6.37:g.27806476A>C	ENSP00000380177:p.Lys13Gln					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q	p.K13Q			Q99877	H2B1N_HUMAN			1	98	+			13					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.37A>C	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194442	0.22037	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.25414	1.8;1.8	4.75	3.55	0.40652	Histone-fold (2);	0.000000	0.31784	U	0.007066	T	0.21631	0.0521	M	0.92367	3.3	0.25474	N	0.987799	B;B	0.20887	0.0;0.049	B;B	0.11329	0.0;0.006	T	0.32666	-0.9898	10	0.72032	D	0.01	.	11.2321	0.48918	0.8459:0.154:0.0:0.0	.	13;13	Q99877;B2R4S9	H2B1N_HUMAN;.	Q	13	ENSP00000446031:K13Q;ENSP00000380177:K13Q	ENSP00000380177:K13Q	K	+	1	0	HIST1H2BN	27914455	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	4.615000	0.61190	0.861000	0.35504	0.533000	0.62120	AAA		0.552	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		5	201	0	0	0	0.184627	0	5	201				
MAGEA6	4105	broad.mit.edu	37	X	151869832	151869832	+	Silent	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532																																						ENST00000329342.5																			1	Substitution - coding silent(1)	p.H174H(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(520-522)caC>caT		melanoma antigen family A, 6							126.0	113.0	118.0					X																	151869832		2203	4299	6502	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869832C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.522C>T	X.37:g.151869832C>T							p.H174H	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	747	+	Acute lymphoblastic leukemia(192;6.56e-05)		174			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.522C>T	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		13	143	0	0	0	0.411799	0	13	143				
ZGRF1	55345	broad.mit.edu	37	4	113468559	113468559	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:113468559T>C	ENST00000505019.1	-	24	5605	c.5480A>G	c.(5479-5481)gAg>gGg	p.E1827G	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1827						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E1827G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTTCACACTCAAACCTAAA	0.348																																						ENST00000505019.1																			1	Substitution - Missense(1)	p.E1827G(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5479-5481)gAg>gGg		chromosome 4 open reading frame 21							65.0	60.0	62.0					4																	113468559		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113468559T>C																												ENST00000505019.1:c.5480A>G	4.37:g.113468559T>C	ENSP00000424737:p.Glu1827Gly						p.E1827G	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	24	5605	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5480A>G		.	.	.	.	.	.	.	.	.	.	T	18.12	3.552596	0.65425	.	.	ENSG00000138658	ENST00000505019	T	0.79749	-1.3	5.93	5.93	0.95920	.	0.306220	0.31897	N	0.006888	T	0.54287	0.1849	N	0.00608	-1.33	0.80722	D	1	B;B	0.24768	0.111;0.001	B;B	0.22753	0.041;0.002	T	0.58526	-0.7621	10	0.21014	T	0.42	-19.5403	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1827;285	G5EA02;B3KQX2	.;.	G	1827	ENSP00000424737:E1827G	ENSP00000424737:E1827G	E	-	2	0	C4orf21	113688008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.263000	0.75096	0.533000	0.62120	GAG		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			4	54	0	0	0	0.150653	0	4	54				
LOC400800	400800	broad.mit.edu	37	1	199130136	199130137	+	lincRNA	INS	-	-	G	rs369838564|rs200328152|rs142603788		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:199130136_199130137insG	ENST00000452199.1	+	0	140																											gaaggaaggaagaaggaaggaa	0.475																																						ENST00000452199.1																			0																																																			0							g.chr1:199130136_199130137insG																													1.37:g.199130137_199130137dupG														0	140	+									RNA	INS	ENST00000452199.1	37																																																																																						0.475	RP11-382E9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087440.1			4	3						4	3	---	---	---	---
LINC00504	201853	broad.mit.edu	37	4	14562532	14562533	+	lincRNA	INS	-	-	GAAG	rs9684178		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:14562532_14562533insGAAG	ENST00000505089.2	-	0	461									long intergenic non-protein coding RNA 504																		gagggagggaagaaggaaggaa	0.426																																						ENST00000505089.1																			0																																																			0							g.chr4:14562532_14562533insGAAG			4p15.33	2012-10-12			ENSG00000248360	ENSG00000248360		"""Long non-coding RNAs"""	43555	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000160121		4.37:g.14562537_14562540dupGAAG														0	461	-									RNA	INS	ENST00000505089.2	37																																																																																						0.426	LINC00504-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000360859.2			4	1						4	1	---	---	---	---
RASL11B	65997	broad.mit.edu	37	4	53730662	53730662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:53730662delC	ENST00000248706.3	+	3	435	c.217delC	c.(217-219)caafs	p.Q73fs	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTATACTAGACAAGTTCAGAT	0.378																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(217-219)aafs		RAS-like, family 11, member B							175.0	190.0	185.0					4																	53730662		2203	4300	6503	SO:0001589	frameshift_variant	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53730662delC	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.217delC	4.37:g.53730662delC	ENSP00000248706:p.Gln73fs					RASL11B_ENST00000505041.1_3'UTR	p.Q73fs	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		3	435	+			73			Small GTPase-like.			Frame_Shift_Del	DEL	ENST00000248706.3	37	c.217delC	CCDS3490.1																																																																																				0.378	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		7	785						7	785	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		7	67						7	67	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100265826	100265827	+	RNA	INS	-	-	AACTC	rs368136717|rs34551784|rs79306877	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:100265826_100265827insAACTC	ENST00000510055.1	-	0	742				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TACATTTTCTTAACAAGTTTTT	0.297														1074	0.214457	0.0998	0.2709	5008	,	,		19444	0.0764		0.4046	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100265826_100265827insAACTC	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100265826_100265827insAACTC						ADH1C_ENST00000510055.1_RNA		NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	919	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000510055.1	37																																																																																						0.297	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		4	5						4	5	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	66000448	66000449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:66000448_66000449insA	ENST00000320580.4	+	15	1782_1783	c.1749_1750insA	c.(1750-1752)cagfs	p.Q584fs	PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	584					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGAGCTGCTCCAGGACCAGCG	0.624																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1747-1752)ctaggafs		phosphofurin acidic cluster sorting protein 1																																				SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66000448_66000449insA	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	Exception_encountered	11.37:g.66000448_66000449insA	ENSP00000316454:p.Gln584fs					PACS1_ENST00000529757.1_Frame_Shift_Ins_p.G120fs	p.G584fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			15	1782_1783	+			584					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Ins	INS	ENST00000320580.4	37	c.1749_1750insA	CCDS8129.1																																																																																				0.624	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		35	423						35	423	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		6	8						6	8	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	8						5	8	---	---	---	---
RP11-678G14.2	0	broad.mit.edu	37	19	21749584	21749585	+	RNA	INS	-	-	A	rs140005343		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:21749584_21749585insA	ENST00000594564.1	-	0	134																											CGATGACCAAGAAAAAACTAAA	0.446																																						ENST00000594564.1																			0																																																			0							g.chr19:21749584_21749585insA																													19.37:g.21749590_21749590dupA														0	134	-									RNA	INS	ENST00000594564.1	37																																																																																						0.446	RP11-678G14.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000463990.1			3	5						3	5	---	---	---	---
