#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
CPA4	51200	broad.mit.edu	37	7	129962465	129962465	+	Silent	SNP	G	G	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:129962465G>A	ENST00000222482.4	+	11	1243	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	CPA4_ENST00000445470.2_Silent_p.T372T|CPA4_ENST00000493259.1_Silent_p.T301T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	405					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CAGAGGAGACGTGGCTGGGGC	0.522																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1213-1215)acG>acA		carboxypeptidase A4							187.0	156.0	167.0					7																	129962465		2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129962465G>A	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1215G>A	7.37:g.129962465G>A						CPA4_ENST00000445470.2_Silent_p.T372T|CPA4_ENST00000493259.1_Silent_p.T301T	p.T405T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			11	1243	+	Melanoma(18;0.0435)		405					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.1215G>A	CCDS5818.1																																																																																				0.522	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		28	57	0	0	0	1	0	28	57				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	16	0	0	0	1	0	3	16				
ACVRL1	94	broad.mit.edu	37	12	52312898	52312898	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr12:52312898C>T	ENST00000388922.4	+	9	1659	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L	ACVRL1_ENST00000550683.1_Splice_Site_p.P473L|ACVRL1_ENST00000419526.2_Splice_Site_p.P285L	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCTGCAGACCCGGTGAGGCCT	0.587																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.e8+1		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						70.0	58.0	62.0					12																	52312898		2203	4300	6503	SO:0001630	splice_region_variant	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312898C>T	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1377+1C>T	12.37:g.52312898C>T						ACVRL1_ENST00000419526.2_Splice_Site_p.P285_splice|ACVRL1_ENST00000388922.4_Splice_Site_p.P459_splice	p.P473_splice	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1519	+			459			Protein kinase.		A6NGA8	Splice_Site	SNP	ENST00000388922.4	37	c.1419_splice	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555030	0.86231	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	T;T;T	0.64803	-0.12;-0.12;-0.12	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001136	T	0.76941	0.4058	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.971;0.998	B;D	0.64321	0.424;0.924	T	0.79564	-0.1751	10	0.72032	D	0.01	.	12.4395	0.55617	0.168:0.832:0.0:0.0	.	285;459	E7EN07;P37023	.;ACVL1_HUMAN	L	459;459;473;285;285	ENSP00000373574:P459L;ENSP00000447884:P473L;ENSP00000392492:P285L	ENSP00000267008:P459L	P	+	2	0	ACVRL1	50599165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.486000	0.60286	2.720000	0.93068	0.561000	0.74099	CCG		0.587	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		Missense_Mutation	14	42	0	0	0	1	0	14	42				
ATP2B3	492	broad.mit.edu	37	X	152826170	152826170	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chrX:152826170C>T	ENST00000349466.2	+	18	3202	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	ATP2B3_ENST00000370186.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A945V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A959V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A959V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	959					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.A959V(6)|p.A945V(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGAATGCGCCCCTGCAC	0.562																																						ENST00000370186.1																			8	Substitution - Missense(8)	p.A959V(6)|p.A945V(2)	lung(8)	NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2833-2835)gCg>gTg		ATPase, Ca++ transporting, plasma membrane 3							192.0	146.0	161.0					X																	152826170		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152826170C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2876C>T	X.37:g.152826170C>T	ENSP00000343886:p.Ala959Val					ATP2B3_ENST00000349466.2_Missense_Mutation_p.A959V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A959V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A945V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A959V	p.A945V			Q16720	AT2B3_HUMAN			17	3160	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		959					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2834C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888376	0.52014	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.057447	0.64402	D	0.000002	D	0.87849	0.6281	M	0.65677	2.01	0.47094	D	0.999311	P;P	0.38167	0.621;0.568	B;B	0.35727	0.209;0.189	D	0.88977	0.3405	10	0.59425	D	0.04	-21.8113	16.126	0.81395	0.0:1.0:0.0:0.0	.	959;959	Q16720;Q16720-2	AT2B3_HUMAN;.	V	945;959;945;959;959;945	ENSP00000359205:A945V;ENSP00000343886:A959V;ENSP00000377425:A945V;ENSP00000352062:A959V;ENSP00000263519:A959V;ENSP00000359200:A945V	ENSP00000263519:A959V	A	+	2	0	ATP2B3	152479364	1.000000	0.71417	0.021000	0.16686	0.027000	0.11550	7.798000	0.85924	2.057000	0.61298	0.519000	0.50382	GCG		0.562	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		3	35	0	0	0	1	0	3	35				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	48	0	0	0	1	0	3	48				
SLC25A25	114789	broad.mit.edu	37	9	130868474	130868474	+	Missense_Mutation	SNP	G	G	A	rs575643847		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr9:130868474G>A	ENST00000373064.5	+	7	1107	c.844G>A	c.(844-846)Gag>Aag	p.E282K	SLC25A25_ENST00000433501.1_Missense_Mutation_p.E179K|SLC25A25_ENST00000373068.2_Missense_Mutation_p.E316K|SLC25A25_ENST00000373066.5_Missense_Mutation_p.E314K|SLC25A25_ENST00000432073.2_Missense_Mutation_p.E302K|SLC25A25_ENST00000373069.5_Missense_Mutation_p.E328K|RP11-395P17.11_ENST00000602939.1_RNA	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	282					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGGATTCACGAGAGGCTTGT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19237	0.001		0.0	False		,,,				2504	0.0					ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(940-942)Gag>Aag		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							160.0	172.0	168.0					9																	130868474		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130868474G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.844G>A	9.37:g.130868474G>A	ENSP00000362155:p.Glu282Lys					SLC25A25_ENST00000432073.2_Missense_Mutation_p.E302K|SLC25A25_ENST00000373068.2_Missense_Mutation_p.E316K|SLC25A25_ENST00000433501.1_Missense_Mutation_p.E179K|SLC25A25_ENST00000373069.5_Missense_Mutation_p.E328K|SLC25A25_ENST00000373064.5_Missense_Mutation_p.E282K	p.E314K	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			8	1347	+			282					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.940G>A	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663754	0.96745	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.66	5.66	0.87406	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	L	0.39692	1.235	0.80722	D	1	D;P;D;P	0.60160	0.987;0.956;0.984;0.724	P;P;P;B	0.49561	0.615;0.481;0.481;0.202	T	0.78663	-0.2116	10	0.49607	T	0.09	-35.8147	18.3036	0.90172	0.0:0.0:1.0:0.0	.	282;314;302;316	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	K	316;328;302;314;282;179	ENSP00000362159:E316K;ENSP00000362160:E328K;ENSP00000410053:E302K;ENSP00000362157:E314K;ENSP00000362155:E282K;ENSP00000401672:E179K	ENSP00000362155:E282K	E	+	1	0	SLC25A25	129908295	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	5.780000	0.68956	2.665000	0.90641	0.561000	0.74099	GAG		0.602	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		12	114	0	0	0	1	0	12	114				
KRT27	342574	broad.mit.edu	37	17	38935957	38935957	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr17:38935957C>T	ENST00000301656.3	-	4	881	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTTACCTTTTCGTTGAACCAG	0.657																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(841-843)Gaa>Aaa		keratin 27							35.0	34.0	34.0					17																	38935957		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935957C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.841G>A	17.37:g.38935957C>T	ENSP00000301656:p.Glu281Lys						p.E281K	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	881	-		Breast(137;0.000812)	281			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.841G>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193762	0.38707	.	.	ENSG00000171446	ENST00000301656	D	0.88509	-2.39	5.51	5.51	0.81932	Filament (1);	0.096993	0.44902	D	0.000407	T	0.78007	0.4216	N	0.05487	-0.04	0.09310	N	1	B	0.27068	0.167	B	0.31812	0.136	T	0.66236	-0.5974	10	0.30078	T	0.28	.	10.3483	0.43920	0.0:0.8492:0.0:0.1508	.	281	Q7Z3Y8	K1C27_HUMAN	K	281	ENSP00000301656:E281K	ENSP00000301656:E281K	E	-	1	0	KRT27	36189483	0.000000	0.05858	0.587000	0.28692	0.593000	0.36681	-0.114000	0.10757	2.750000	0.94351	0.585000	0.79938	GAA		0.657	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		7	22	0	0	0	1	0	7	22				
POM121C	100101267	broad.mit.edu	37	7	75070281	75070281	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:75070281C>A	ENST00000257665.5	-	3	903	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	POM121C_ENST00000453279.2_Missense_Mutation_p.V60L			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	302	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TCTTCCTCCACTGTCCTTTTC	0.473																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(178-180)Gtg>Ttg		POM121 transmembrane nucleoporin C							137.0	151.0	147.0					7																	75070281		2202	4281	6483	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75070281C>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.904G>T	7.37:g.75070281C>A	ENSP00000257665:p.Val302Leu					POM121C_ENST00000257665.5_Missense_Mutation_p.V302L	p.V60L	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			5	1042	-			302			Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.178G>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.375633	0.42105	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.11604	2.76;2.76	4.27	3.38	0.38709	.	0.195954	0.24978	N	0.034084	T	0.12561	0.0305	M	0.73962	2.25	0.35634	D	0.810419	P	0.41102	0.738	B	0.35413	0.202	T	0.18429	-1.0337	10	0.41790	T	0.15	.	9.3638	0.38212	0.0:0.8968:0.0:0.1032	.	302	A8CG34	P121C_HUMAN	L	302;60	ENSP00000257665:V302L;ENSP00000414208:V60L	ENSP00000257665:V302L	V	-	1	0	POM121C	74908217	0.997000	0.39634	0.317000	0.25265	0.570000	0.35934	3.987000	0.56944	0.923000	0.37045	0.505000	0.49811	GTG		0.473	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		36	162	1	0	1.67211e-32	1	1.86883e-32	36	162				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	122	0	0	0	1	0	4	122				
COL18A1	80781	broad.mit.edu	37	21	46888241	46888241	+	Silent	SNP	C	C	T	rs551067516	byFrequency	TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr21:46888241C>T	ENST00000359759.4	+	2	1458	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	COL18A1_ENST00000355480.5_Silent_p.V244V|COL18A1_ENST00000400337.2_Silent_p.V64V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	479	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACCCCGACGTCGGGCTGGCCT	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17289	0.0		0.0	False		,,,				2504	0.0					ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1435-1437)gtC>gtT		collagen, type XVIII, alpha 1							54.0	62.0	59.0					21																	46888241		1992	4155	6147	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888241C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1437C>T	21.37:g.46888241C>T						COL18A1_ENST00000355480.5_Silent_p.V244V|COL18A1_ENST00000400337.2_Silent_p.V64V	p.V479V			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1458	+			479			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.1437C>T																																																																																					0.627	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			19	48	0	0	0	1	0	19	48				
ABCA5	23461	broad.mit.edu	37	17	67246065	67246065	+	Silent	SNP	A	A	G			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr17:67246065A>G	ENST00000392676.3	-	37	4810	c.4746T>C	c.(4744-4746)tcT>tcC	p.S1582S	ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1582					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCTTAAAAAAAGATTGTGAAA	0.284																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(4744-4746)tcT>tcC		ATP-binding cassette, sub-family A (ABC1), member 5							30.0	32.0	31.0					17																	67246065		2199	4282	6481	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67246065A>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4746T>C	17.37:g.67246065A>G						ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S	p.S1582S			Q8WWZ7	ABCA5_HUMAN			37	4810	-	Breast(10;3.72e-11)		1582					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.4746T>C	CCDS11685.1																																																																																				0.284	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		9	33	0	0	0	1	0	9	33				
DMP1	1758	broad.mit.edu	37	4	88583764	88583764	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr4:88583764C>G	ENST00000339673.6	+	6	933	c.834C>G	c.(832-834)gaC>gaG	p.D278E	DMP1_ENST00000282479.7_Missense_Mutation_p.D262E|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	278					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGAAGATGACAGAAGCGAGC	0.478																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(832-834)gaC>gaG		dentin matrix acidic phosphoprotein 1							63.0	64.0	64.0					4																	88583764		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583764C>G	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.834C>G	4.37:g.88583764C>G	ENSP00000340935:p.Asp278Glu					DMP1_ENST00000282479.7_Missense_Mutation_p.D262E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	p.D278E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	933	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	278					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.834C>G	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924103	0.18056	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.41758	0.99;0.99	5.13	1.4	0.22301	.	0.443549	0.20824	N	0.085017	T	0.44726	0.1307	L	0.60067	1.865	0.09310	N	1	P;P	0.38048	0.562;0.616	B;P	0.47528	0.413;0.549	T	0.35822	-0.9773	10	0.54805	T	0.06	-2.271	6.8386	0.23951	0.0:0.5684:0.1207:0.311	.	262;278	Q13316-2;Q13316	.;DMP1_HUMAN	E	278;262	ENSP00000340935:D278E;ENSP00000282479:D262E	ENSP00000282479:D262E	D	+	3	2	DMP1	88802788	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.773000	0.04689	-0.025000	0.13918	-0.813000	0.03139	GAC		0.478	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			8	14	0	0	0	1	0	8	14				
CRTC1	23373	broad.mit.edu	37	19	18870928	18870928	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr19:18870928C>T	ENST00000321949.8	+	8	802	c.776C>T	c.(775-777)cCg>cTg	p.P259L	CRTC1_ENST00000338797.6_Missense_Mutation_p.P275L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P184L|CRTC1_ENST00000594658.1_Missense_Mutation_p.P218L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCCCCGCTCCCGACCCCGCTG	0.682																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(823-825)cCg>cTg		CREB regulated transcription coactivator 1							65.0	76.0	72.0					19																	18870928		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870928C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.776C>T	19.37:g.18870928C>T	ENSP00000323332:p.Pro259Leu					CRTC1_ENST00000594658.1_Missense_Mutation_p.P218L|CRTC1_ENST00000601916.1_Missense_Mutation_p.P184L|CRTC1_ENST00000321949.8_Missense_Mutation_p.P259L	p.P275L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			9	849	+			259						Missense_Mutation	SNP	ENST00000321949.8	37	c.824C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624746	0.87560	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.55413	0.52;0.52	4.6	4.6	0.57074	Transducer of regulated CREB activity, middle domain (1);	0.056150	0.64402	D	0.000001	T	0.74283	0.3696	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.72075	0.908;0.937;0.976	T	0.79671	-0.1706	10	0.72032	D	0.01	-27.5208	16.4152	0.83731	0.0:1.0:0.0:0.0	.	259;275;259	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	259;275;259	ENSP00000345001:P275L;ENSP00000323332:P259L	ENSP00000262813:P259L	P	+	2	0	CRTC1	18731928	0.998000	0.40836	0.946000	0.38457	0.619000	0.37552	7.470000	0.80973	2.119000	0.64992	0.462000	0.41574	CCG		0.682	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		15	38	0	0	0	1	0	15	38				
ADCK5	203054	broad.mit.edu	37	8	145616370	145616370	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr8:145616370C>A	ENST00000308860.6	+	6	624	c.580C>A	c.(580-582)Ccc>Acc	p.P194T	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	194	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCAGGCCCTCCCCCACGAGCT	0.637																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(580-582)Ccc>Acc		aarF domain containing kinase 5							63.0	61.0	62.0					8																	145616370		2203	4300	6503	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145616370C>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.580C>A	8.37:g.145616370C>A	ENSP00000310547:p.Pro194Thr					ADCK5_ENST00000526231.2_3'UTR	p.P194T	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		6	624	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		194			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.580C>A	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510652	0.64522	.	.	ENSG00000173137	ENST00000308860	T	0.54866	0.55	5.19	4.32	0.51571	ABC-1 (1);Protein kinase-like domain (1);	0.069635	0.56097	D	0.000024	T	0.67692	0.2920	M	0.87900	2.915	0.80722	D	1	D	0.53885	0.963	P	0.58130	0.833	T	0.67921	-0.5545	10	0.20046	T	0.44	-27.4556	10.2822	0.43545	0.0:0.6293:0.3707:0.0	.	194	Q3MIX3	ADCK5_HUMAN	T	194	ENSP00000310547:P194T	ENSP00000310547:P194T	P	+	1	0	ADCK5	145587178	0.984000	0.35163	0.121000	0.21740	0.958000	0.62258	2.646000	0.46630	1.159000	0.42565	0.462000	0.41574	CCC		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		4	29	1	0	0.00909568	1	0.009601	4	29				
GRHL1	29841	broad.mit.edu	37	2	10136062	10136062	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr2:10136062T>G	ENST00000324907.9	+	13	1691	c.1555T>G	c.(1555-1557)Tct>Gct	p.S519A	GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000324883.5_Missense_Mutation_p.S330A|GRHL1_ENST00000405379.2_Missense_Mutation_p.S519A	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	519					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGTCCCTCCTTCTACCAAGCT	0.448																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1555-1557)Tct>Gct		grainyhead-like 1 (Drosophila)							160.0	163.0	162.0					2																	10136062		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10136062T>G	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1555T>G	2.37:g.10136062T>G	ENSP00000324693:p.Ser519Ala					GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000324883.5_Missense_Mutation_p.S330A|GRHL1_ENST00000405379.2_Missense_Mutation_p.S519A	p.S519A	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	13	1691	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		519					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1555T>G	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481199	0.12581	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.17854	2.73;2.25;2.73	6.03	-0.0261	0.13932	.	0.200542	0.53938	D	0.000051	T	0.07458	0.0188	N	0.11560	0.145	0.23848	N	0.996676	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38735	-0.9647	10	0.16896	T	0.51	-8.3655	10.1576	0.42831	0.0:0.8259:0.0953:0.0787	.	330;519	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	A	519;330;519	ENSP00000384209:S519A;ENSP00000324494:S330A;ENSP00000324693:S519A	ENSP00000324494:S330A	S	+	1	0	GRHL1	10053513	0.547000	0.26465	0.003000	0.11579	0.038000	0.13279	1.295000	0.33377	-0.297000	0.08934	-0.899000	0.02877	TCT		0.448	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		43	141	0	0	0	1	0	43	141				
FLNC	2318	broad.mit.edu	37	7	128481309	128481309	+	Silent	SNP	G	G	A	rs553903798		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:128481309G>A	ENST00000325888.8	+	12	2160	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	FLNC_ENST00000346177.6_Silent_p.T633T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	633					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTGGCCCACGGAGCCTGGGG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18510	0.0		0.0	False		,,,				2504	0.001					ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1897-1899)acG>acA		filamin C, gamma							172.0	183.0	180.0					7																	128481309		2170	4264	6434	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481309G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1899G>A	7.37:g.128481309G>A						FLNC_ENST00000346177.6_Silent_p.T633T	p.T633T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			12	2160	+			633					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1899G>A	CCDS43644.1																																																																																				0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	149	0	0	0	1	0	5	149				
MSLN	10232	broad.mit.edu	37	16	814693	814693	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr16:814693A>G	ENST00000382862.3	+	6	442	c.347A>G	c.(346-348)gAc>gGc	p.D116G	MSLN_ENST00000566549.1_Missense_Mutation_p.D116G|MSLN_ENST00000545450.2_Missense_Mutation_p.D116G|MSLN_ENST00000563941.1_Missense_Mutation_p.D116G	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	116					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAGGACCTGGACGCCCTCCCA	0.682																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(346-348)gAc>gGc		mesothelin							76.0	87.0	83.0					16																	814693		2199	4292	6491	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814693A>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.347A>G	16.37:g.814693A>G	ENSP00000372313:p.Asp116Gly					MSLN_ENST00000382862.3_Missense_Mutation_p.D116G|MSLN_ENST00000563941.1_Missense_Mutation_p.D116G|MSLN_ENST00000545450.2_Missense_Mutation_p.D116G	p.D116G			Q13421	MSLN_HUMAN			6	764	+		Hepatocellular(780;0.00335)	116					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.347A>G	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	A	9.224	1.034015	0.19590	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.14766	2.48;2.48	2.36	2.36	0.29203	.	0.418767	0.19531	U	0.112023	T	0.16727	0.0402	L	0.50333	1.59	0.09310	N	1	P;P;D;P	0.54207	0.932;0.945;0.965;0.932	P;P;P;P	0.50136	0.48;0.615;0.632;0.48	T	0.05599	-1.0875	10	0.49607	T	0.09	.	6.2689	0.20943	1.0:0.0:0.0:0.0	.	115;116;116;116	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	G	116	ENSP00000442965:D116G;ENSP00000372313:D116G	ENSP00000372313:D116G	D	+	2	0	MSLN	754694	0.000000	0.05858	0.045000	0.18777	0.409000	0.31022	0.109000	0.15417	0.923000	0.37045	0.459000	0.35465	GAC		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			41	131	0	0	0	1	0	41	131				
KCNK16	83795	broad.mit.edu	37	6	39282878	39282878	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr6:39282878G>A	ENST00000373229.5	-	6	843	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KCNK16_ENST00000373227.4_Missense_Mutation_p.A230V|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000425054.2_3'UTR|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165V	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	277					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCTGGAGCCGCCTTGGCTCC	0.572																																						ENST00000373229.5																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(829-831)gCg>gTg		potassium channel, subfamily K, member 16							106.0	104.0	105.0					6																	39282878		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39282878G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.830C>T	6.37:g.39282878G>A	ENSP00000362326:p.Ala277Val					KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230V	p.A277V	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN			6	843	-			277					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.830C>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957519	0.18507	.	.	ENSG00000095981	ENST00000373229;ENST00000507712;ENST00000373227	T;T;T	0.16196	2.53;2.36;2.95	3.28	-0.489	0.12052	.	450.126000	0.00166	N	0.000000	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.01281	0.0;0.0	T	0.36986	-0.9725	10	0.48119	T	0.1	.	3.2418	0.06783	0.0:0.2433:0.219:0.5377	.	230;277	Q96T55-5;Q96T55	.;KCNKG_HUMAN	V	277;165;230	ENSP00000362326:A277V;ENSP00000423842:A165V;ENSP00000362324:A230V	ENSP00000362324:A230V	A	-	2	0	KCNK16	39390856	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.786000	0.04623	-0.085000	0.12573	-0.520000	0.04383	GCG		0.572	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		4	90	0	0	0	1	0	4	90				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	41	0	0	0	1	0	7	41				
MYOM1	8736	broad.mit.edu	37	18	3094169	3094169	+	Splice_Site	SNP	G	G	C	rs200808890		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr18:3094169G>C	ENST00000356443.4	-	26	4196	c.3863C>G	c.(3862-3864)cCg>cGg	p.P1288R	MYOM1_ENST00000261606.7_Splice_Site_p.P1192R|MYOM1_ENST00000400569.3_Splice_Site_p.P1288R|RNU7-25P_ENST00000516544.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1288					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1288R(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAAACCTACCGGGCCTTCAAA	0.408																																						ENST00000356443.4																			1	Substitution - Missense(1)	p.P1288R(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.e26+1		myomesin 1							72.0	69.0	70.0					18																	3094169		1812	4083	5895	SO:0001630	splice_region_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3094169G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3864+1C>G	18.37:g.3094169G>C						MYOM1_ENST00000400569.3_Splice_Site_p.P1288_splice|MYOM1_ENST00000261606.7_Splice_Site_p.P1192_splice	p.P1288_splice	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			26	4196	-			1288					Q14BD6|Q6H969|Q6ZUU0	Splice_Site	SNP	ENST00000356443.4	37	c.3864_splice	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820808	0.50633	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	4.66	0.58398	Immunoglobulin-like fold (1);	0.322273	0.36778	N	0.002410	T	0.06050	0.0157	L	0.42245	1.32	0.44918	D	0.997933	P;P	0.45176	0.852;0.769	B;B	0.42462	0.388;0.173	T	0.51196	-0.8736	10	0.20046	T	0.44	.	12.4283	0.55559	0.0:0.0:0.5401:0.4598	.	1192;1288	P52179-2;P52179	.;MYOM1_HUMAN	R	1288;1288;1192	ENSP00000348821:P1288R;ENSP00000383413:P1288R;ENSP00000261606:P1192R	ENSP00000261606:P1192R	P	-	2	0	MYOM1	3084169	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.913000	0.48790	1.534000	0.49203	0.655000	0.94253	CCG		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	Missense_Mutation	4	53	0	0	0	1	0	4	53				
SETD6	79918	broad.mit.edu	37	16	58552021	58552021	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr16:58552021C>A	ENST00000219315.4	+	6	909	c.859C>A	c.(859-861)Caa>Aaa	p.Q287K	SETD6_ENST00000394266.4_Missense_Mutation_p.Q218K|SETD6_ENST00000310682.2_Missense_Mutation_p.Q263K|SETD6_ENST00000418480.1_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	287					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CACTTATGGGCAAATGGCTAA	0.463																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(652-654)Caa>Aaa		SET domain containing 6							151.0	122.0	132.0					16																	58552021		2198	4300	6498	SO:0001583	missense	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58552021C>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.859C>A	16.37:g.58552021C>A	ENSP00000219315:p.Gln287Lys					SETD6_ENST00000418480.1_Intron|SETD6_ENST00000219315.4_Missense_Mutation_p.Q287K|SETD6_ENST00000310682.2_Missense_Mutation_p.Q263K	p.Q218K			Q8TBK2	SETD6_HUMAN			7	708	+			287			SET.		A8K380|B5ME38|Q9H787	Missense_Mutation	SNP	ENST00000219315.4	37	c.652C>A	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415138	0.62511	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.13307	2.6;2.6;2.6	5.72	5.72	0.89469	SET domain (1);	0.000000	0.85682	D	0.000000	T	0.18087	0.0434	M	0.78637	2.42	0.58432	D	0.999997	P;P	0.40834	0.73;0.625	B;B	0.34779	0.189;0.092	T	0.14868	-1.0457	10	0.09338	T	0.73	-10.8187	18.875	0.92331	0.0:1.0:0.0:0.0	.	287;263	Q8TBK2;Q8TBK2-2	SETD6_HUMAN;.	K	263;218;287	ENSP00000310082:Q263K;ENSP00000377809:Q218K;ENSP00000219315:Q287K	ENSP00000219315:Q287K	Q	+	1	0	SETD6	57109522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.354000	0.59417	2.689000	0.91719	0.650000	0.86243	CAA		0.463	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		4	82	1	0	0.150653	1	0.150653	4	82				
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	rs554135792		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.001					ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(493-495)Cgc>Tgc		family with sequence similarity 180, member A							67.0	59.0	62.0					7																	135418752		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418752G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	7.37:g.135418752G>A	ENSP00000342336:p.Arg165Cys					FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C	p.R165C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	758	-			165					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.493C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC		0.597	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		4	13	0	0	0	1	0	4	13				
PPP6R1	22870	broad.mit.edu	37	19	55748179	55748179	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr19:55748179T>C	ENST00000412770.2	-	17	2386	c.1820A>G	c.(1819-1821)aAc>aGc	p.N607S	AC010327.1_ENST00000581390.1_RNA|PPP6R1_ENST00000587283.1_Missense_Mutation_p.N607S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	607					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTCAAGTAGGTTGGCGTTGGG	0.612																																						ENST00000412770.2																			0				breast(1)	1						c.(1819-1821)aAc>aGc		protein phosphatase 6, regulatory subunit 1							93.0	93.0	93.0					19																	55748179		2031	4183	6214	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55748179T>C	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1820A>G	19.37:g.55748179T>C	ENSP00000414202:p.Asn607Ser					PPP6R1_ENST00000587283.1_Missense_Mutation_p.N607S	p.N607S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			17	2386	-			607					Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.1820A>G	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932315	0.34096	.	.	ENSG00000105063	ENST00000412770	T	0.43294	0.95	4.83	3.81	0.43845	.	0.086123	0.45606	D	0.000342	T	0.25680	0.0625	N	0.14661	0.345	0.29639	N	0.844875	P	0.41710	0.76	B	0.44108	0.441	T	0.07443	-1.0772	10	0.09338	T	0.73	-40.4134	10.0229	0.42055	0.0:0.0861:0.0:0.9139	.	607	Q9UPN7	PP6R1_HUMAN	S	607	ENSP00000414202:N607S	ENSP00000414202:N607S	N	-	2	0	PPP6R1	60439991	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.693000	0.25497	2.161000	0.67846	0.460000	0.39030	AAC		0.612	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		19	44	0	0	0	1	0	19	44				
GPR98	84059	broad.mit.edu	37	5	90149293	90149293	+	Silent	SNP	G	G	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr5:90149293G>A	ENST00000405460.2	+	80	17493	c.17397G>A	c.(17395-17397)gaG>gaA	p.E5799E	GPR98_ENST00000425867.2_Silent_p.E1460E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5799					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTTTACAGAGTATAGCAGCC	0.373																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17395-17397)gaG>gaA		G protein-coupled receptor 98							70.0	66.0	67.0					5																	90149293		1847	4084	5931	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149293G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17397G>A	5.37:g.90149293G>A						GPR98_ENST00000425867.2_Silent_p.E1460E	p.E5799E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17493	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5799					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.17397G>A	CCDS47246.1																																																																																				0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	17	0	0	0	1	0	3	17				
FLI1	2313	broad.mit.edu	37	11	128642835	128642835	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr11:128642835T>C	ENST00000527786.2	+	4	1033	c.544T>C	c.(544-546)Tac>Cac	p.Y182H	FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.2_Missense_Mutation_p.Y149H|FLI1_ENST00000344954.6_Missense_Mutation_p.Y149H|FLI1_ENST00000281428.8_Missense_Mutation_p.Y116H	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	182	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CACCACCCTCTACAACACGGA	0.532			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(445-447)Tac>Cac		Fli-1 proto-oncogene, ETS transcription factor							164.0	167.0	166.0					11																	128642835		2069	4212	6281	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642835T>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.544T>C	11.37:g.128642835T>C	ENSP00000433488:p.Tyr182His					FLI1_ENST00000281428.8_Missense_Mutation_p.Y116H|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000429175.2_Missense_Mutation_p.Y182H|FLI1_ENST00000534087.1_Missense_Mutation_p.Y149H	p.Y149H			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	833	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	182			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.445T>C	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524421	0.64747	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.1	5.1	0.69264	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.51853	1.615	0.80722	D	1	B;B	0.22746	0.074;0.001	B;B	0.40101	0.319;0.101	T	0.19976	-1.0289	9	.	.	.	.	14.9475	0.71044	0.0:0.0:0.0:1.0	.	182;116	Q01543;Q01543-2	FLI1_HUMAN;.	H	149;182;149;116	ENSP00000339627:Y149H;ENSP00000399985:Y182H;ENSP00000432950:Y149H;ENSP00000281428:Y116H	.	Y	+	1	0	FLI1	128148045	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.977000	0.88081	1.927000	0.55829	0.529000	0.55759	TAC		0.532	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		12	117	0	0	0	1	0	12	117				
DHX30	22907	broad.mit.edu	37	3	47889821	47889821	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr3:47889821G>A	ENST00000445061.1	+	15	2845	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	DHX30_ENST00000348968.4_Missense_Mutation_p.R785H|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.R841H|DHX30_ENST00000446256.2_Missense_Mutation_p.R774H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGATCCTGCGCACACCTCTT	0.657																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2320-2322)cGc>cAc		DEAH (Asp-Glu-Ala-His) box helicase 30							47.0	54.0	52.0					3																	47889821		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889821G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2438G>A	3.37:g.47889821G>A	ENSP00000405620:p.Arg813His					DHX30_ENST00000457607.1_Missense_Mutation_p.R841H|DHX30_ENST00000445061.1_Missense_Mutation_p.R813H|DHX30_ENST00000348968.4_Missense_Mutation_p.R785H	p.R774H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2893	+			813			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2321G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759104	0.89843	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.95;0.996	T	0.00383	-1.1774	10	0.87932	D	0	.	18.8619	0.92276	0.0:0.0:1.0:0.0	.	813;774	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	774;813;785;841	ENSP00000392601:R774H;ENSP00000405620:R813H;ENSP00000343442:R785H;ENSP00000394682:R841H	ENSP00000343442:R785H	R	+	2	0	DHX30	47864825	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.815000	0.99349	2.687000	0.91594	0.655000	0.94253	CGC		0.657	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		17	32	0	0	0	1	0	17	32				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	96	0	0	0	1	0	7	96				
DPP4	1803	broad.mit.edu	37	2	162865117	162865118	+	Frame_Shift_Ins	INS	-	-	G	rs199755074		TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr2:162865117_162865118insG	ENST00000360534.3	-	22	2501_2502	c.1941_1942insC	c.(1939-1944)ttcaagfs	p.K648fs	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	648					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATTCCACACTTGAACACGCCAC	0.465																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1939-1944)ttagtgfs		dipeptidyl-peptidase 4	Sitagliptin(DB01261)																																			SO:0001589	frameshift_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865117_162865118insG	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1942dupC	2.37:g.162865118_162865118dupG	ENSP00000353731:p.Lys648fs					DPP4_ENST00000491591.1_5'UTR	p.LV647fs	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			22	2501_2502	-			647					Q53TN1	Frame_Shift_Ins	INS	ENST00000360534.3	37	c.1941_1942insC	CCDS2216.1																																																																																				0.465	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			30	70						30	70	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37032769	37032769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr3:37032769delT	ENST00000322716.5	-	1	2026	c.1800delA	c.(1798-1800)agafs	p.R600fs	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	600					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CATTTCTTTCTCTCACAAGGT	0.388																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(1798-1800)agfs		EPM2A (laforin) interacting protein 1							85.0	84.0	84.0					3																	37032769		1839	4084	5923	SO:0001589	frameshift_variant	9852					endoplasmic reticulum		g.chr3:37032769delT	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1800delA	3.37:g.37032769delT	ENSP00000406027:p.Arg600fs						p.R600fs	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	2026	-			600					O94866|Q9H3L3	Frame_Shift_Del	DEL	ENST00000322716.5	37	c.1800delA	CCDS46790.1																																																																																				0.388	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		42	132						42	132	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr7:5401259delG	ENST00000430969.1	-	14	4975	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4627-4629)gcfs		trinucleotide repeat containing 18				32,3150		10,12,1569						3.9	1.0			15	35,6719		7,21,3349	no	frameshift	TNRC18	NM_001080495.2		17,33,4918	A1A1,A1R,RR		0.5182,1.0057,0.6743				67,9869				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5401259delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4627delC	7.37:g.5401259delG	ENSP00000395538:p.Arg1543fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs	p.R1543fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	4975	-		Ovarian(82;0.142)	1543					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.4627delC	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20635102	20635102	+	lincRNA	DEL	T	T	-			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chr19:20635102delT	ENST00000598131.1	+	0	256																											CAGGTAGGTGTTTTTTTTGCT	0.418																																						ENST00000598131.1																			0																																																			0							g.chr19:20635102delT																													19.37:g.20635102delT														0	256	+									RNA	DEL	ENST00000598131.1	37																																																																																						0.418	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			2	4						2	4	---	---	---	---
TXLNGY	246126	broad.mit.edu	37	Y	21758038	21758039	+	RNA	INS	-	-	A			TCGA-V1-A9OA-01A-11D-A41K-08	TCGA-V1-A9OA-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47d4bed8-db46-45d2-8e56-de72205f011d	d84f00dc-8c0d-4a2a-99e3-836a59aba5b7	g.chrY:21758038_21758039insA	ENST00000253320.4	+	0	3119_3120																				haematopoietic_and_lymphoid_tissue(1)	1						CTACTTCTTGGAAAAAAAAAAA	0.376																																						ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1																																														0							g.chrY:21758038_21758039insA																													Y.37:g.21758049_21758049dupA										Q9BZA5	CY15A_HUMAN			0	3119_3120	+									RNA	INS	ENST00000253320.4	37																																																																																						0.376	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			4	3						4	3	---	---	---	---
