#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
DNAJB8	165721	broad.mit.edu	37	3	128182004	128182004	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:128182004G>A	ENST00000469083.1	-	2	2642	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.R29C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	29	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGGTGCCAACGAAGGGCCAGC	0.577																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(85-87)Cgt>Tgt		DnaJ (Hsp40) homolog, subfamily B, member 8							132.0	133.0	133.0					3																	128182004		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128182004G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.85C>T	3.37:g.128182004G>A	ENSP00000417418:p.Arg29Cys					DNAJB8_ENST00000319153.3_Missense_Mutation_p.R29C	p.R29C			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2642	-			29			J.		B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.85C>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925250	0.73213	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.74106	-0.81;-0.81	4.4	2.42	0.29668	Heat shock protein DnaJ, N-terminal (5);	0.119938	0.51477	D	0.000100	T	0.78201	0.4246	L	0.54965	1.715	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.76798	-0.2826	10	0.87932	D	0	.	5.9409	0.19192	0.1018:0.0:0.5184:0.3797	.	29	Q8NHS0	DNJB8_HUMAN	C	29	ENSP00000417418:R29C;ENSP00000316053:R29C	ENSP00000316053:R29C	R	-	1	0	DNAJB8	129664694	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	5.540000	0.67205	0.824000	0.34613	0.491000	0.48974	CGT		0.577	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		38	182	0	0	0	1	0	38	182				
CLEC1A	51267	broad.mit.edu	37	12	10223969	10223969	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:10223969A>G	ENST00000315330.4	-	6	868	c.806T>C	c.(805-807)cTc>cCc	p.L269P	CLEC1A_ENST00000420265.2_Missense_Mutation_p.L177P|CLEC1A_ENST00000457018.2_Missense_Mutation_p.L236P	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	269					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGGGACATGGAGGCTCTCTGG	0.512																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(805-807)cTc>cCc		C-type lectin domain family 1, member A							175.0	155.0	162.0					12																	10223969		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10223969A>G	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.806T>C	12.37:g.10223969A>G	ENSP00000326407:p.Leu269Pro					CLEC1A_ENST00000457018.2_Missense_Mutation_p.L236P|CLEC1A_ENST00000420265.2_Missense_Mutation_p.L177P	p.L269P	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			6	868	-			269					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.806T>C	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114529	0.56505	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.01505	4.9;4.89;4.82	5.33	5.33	0.75918	.	0.327160	0.22238	N	0.062737	T	0.07188	0.0182	L	0.52011	1.625	0.27556	N	0.950331	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.97;0.991	T	0.04737	-1.0930	10	0.87932	D	0	.	11.6772	0.51436	1.0:0.0:0.0:0.0	.	177;236;269	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	P	269;236;177	ENSP00000326407:L269P;ENSP00000415048:L236P;ENSP00000417010:L177P	ENSP00000326407:L269P	L	-	2	0	CLEC1A	10115236	0.206000	0.23470	0.017000	0.16124	0.037000	0.13140	4.243000	0.58721	2.002000	0.58637	0.460000	0.39030	CTC		0.512	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		19	120	0	0	0	1	0	19	120				
SPO11	23626	broad.mit.edu	37	20	55914070	55914070	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr20:55914070G>A	ENST00000371263.3	+	10	979	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SPO11_ENST00000371260.4_Silent_p.K248K|SPO11_ENST00000345868.4_Silent_p.K252K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	290					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCATCTATAAGTATGGATCTA	0.274								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(868-870)aaG>aaA	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							57.0	63.0	61.0					20																	55914070		2200	4295	6495	SO:0001819	synonymous_variant	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55914070G>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.870G>A	20.37:g.55914070G>A						SPO11_ENST00000371260.4_Silent_p.K248K|SPO11_ENST00000345868.4_Silent_p.K252K	p.K290K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		10	979	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		290					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	c.870G>A	CCDS13456.1																																																																																				0.274	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		4	43	0	0	0	1	0	4	43				
OTOGL	283310	broad.mit.edu	37	12	80707349	80707349	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:80707349G>A	ENST00000547103.1	+	30	3523	c.3517G>A	c.(3517-3519)Gca>Aca	p.A1173T	OTOGL_ENST00000458043.2_Missense_Mutation_p.A1173T			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1173					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGTATAGCTGCATATGCATA	0.368																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(3517-3519)Gca>Aca		otogelin-like							180.0	190.0	187.0					12																	80707349		2184	4285	6469	SO:0001583	missense	283310							g.chr12:80707349G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3517G>A	12.37:g.80707349G>A	ENSP00000447211:p.Ala1173Thr					OTOGL_ENST00000547103.1_Missense_Mutation_p.A1173T	p.A1173T	NM_173591.3	NP_775862.3					30	3523	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.3517G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.293726	0.80914	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.78707	-1.2;-1.2	5.61	5.61	0.85477	.	.	.	.	.	D	0.87513	0.6196	M	0.77406	2.37	0.80722	D	1	.	.	.	.	.	.	D	0.87465	0.2410	7	0.52906	T	0.07	.	19.6248	0.95674	0.0:0.0:1.0:0.0	.	.	.	.	T	1173	ENSP00000447211:A1173T;ENSP00000400895:A1173T	ENSP00000400895:A1173T	A	+	1	0	OTOGL	79231480	1.000000	0.71417	0.668000	0.29813	0.346000	0.29079	9.335000	0.96500	2.629000	0.89072	0.650000	0.86243	GCA		0.368	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	79	0	0	0	1	0	4	79				
SGIP1	84251	broad.mit.edu	37	1	67148041	67148041	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:67148041G>A	ENST00000371037.4	+	15	1381	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G439E|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	435	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTGGTCCGGGGACCACCAGT	0.607																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1303-1305)gGg>gAg		SH3-domain GRB2-like (endophilin) interacting protein 1							111.0	125.0	120.0					1																	67148041		2191	4280	6471	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67148041G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1304G>A	1.37:g.67148041G>A	ENSP00000360076:p.Gly435Glu					SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G439E	p.G435E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1381	+			435			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1304G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104667	0.77096	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03124	4.07;4.04	5.49	5.49	0.81192	.	0.370287	0.30869	N	0.008711	T	0.06554	0.0168	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.922;0.994	T	0.51934	-0.8642	10	0.10902	T	0.67	-8.7713	19.3716	0.94490	0.0:0.0:1.0:0.0	.	438;435	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	E	439;438;438;435	ENSP00000237247:G439E;ENSP00000360076:G435E	ENSP00000237247:G439E	G	+	2	0	SGIP1	66920629	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.793000	0.75130	2.570000	0.86706	0.455000	0.32223	GGG		0.607	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		53	271	0	0	0	1	0	53	271				
ABCB1	5243	broad.mit.edu	37	7	87165839	87165839	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:87165839C>T	ENST00000265724.3	-	21	2833	c.2416G>A	c.(2416-2418)Gac>Aac	p.D806N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D742N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	806	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTTTTAGGGTCATCAAACCAA	0.453																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2416-2418)Gac>Aac		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						148.0	133.0	138.0					7																	87165839		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87165839C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2416G>A	7.37:g.87165839C>T	ENSP00000265724:p.Asp806Asn					ABCB1_ENST00000543898.1_Missense_Mutation_p.D742N	p.D806N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			21	2833	-	Esophageal squamous(14;0.00164)		806			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2416G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505810	0.44558	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89415	-2.51;-2.51	5.64	2.89	0.33648	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.271192	0.40302	N	0.001125	D	0.86464	0.5939	L	0.56396	1.775	0.50632	D	0.999887	B;B	0.21225	0.006;0.053	B;B	0.28849	0.014;0.095	T	0.81123	-0.1076	10	0.52906	T	0.07	-12.6309	10.5519	0.45095	0.0:0.7342:0.0:0.2658	.	742;806	B5AK60;P08183	.;MDR1_HUMAN	N	587;806;742	ENSP00000265724:D806N;ENSP00000444095:D742N	ENSP00000265724:D806N	D	-	1	0	ABCB1	87003775	0.968000	0.33430	0.999000	0.59377	0.992000	0.81027	0.226000	0.17776	0.424000	0.26061	-0.218000	0.12543	GAC		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	46	0	0	0	1	0	10	46				
SLCO6A1	133482	broad.mit.edu	37	5	101795412	101795412	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:101795412G>A	ENST00000506729.1	-	5	1140	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000379807.3_Silent_p.V323V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCATGCAACGACAGCGGCAA	0.338																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(967-969)gtC>gtT		solute carrier organic anion transporter family, member 6A1							109.0	104.0	106.0					5																	101795412		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101795412G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.969C>T	5.37:g.101795412G>A						SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.V323V|SLCO6A1_ENST00000513675.1_Intron	p.V323V			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	5	1140	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	323					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.969C>T	CCDS34206.1																																																																																				0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		12	53	0	0	0	1	0	12	53				
BAGE2	85319	broad.mit.edu	37	21	11038954	11038954	+	RNA	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:11038954T>C	ENST00000470054.1	-	0	1249							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATGAAAATGATGACTCTG	0.423																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038954T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038954T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1249	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.423	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		19	564	0	0	0	1	0	19	564				
ALPPL2	251	broad.mit.edu	37	2	233271853	233271853	+	Missense_Mutation	SNP	G	G	A	rs568507509		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:233271853G>A	ENST00000295453.3	+	2	206	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	52					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ACAGACAGCCGCCAAGAACCT	0.677													g|||	1	0.000199681	0.0	0.0	5008	,	,		15433	0.0		0.001	False		,,,				2504	0.0					ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(154-156)Gcc>Acc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						68.0	81.0	76.0					2																	233271853		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271853G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.154G>A	2.37:g.233271853G>A	ENSP00000295453:p.Ala52Thr						p.A52T	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	2	206	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	52					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.154G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476232	0.63737	.	.	ENSG00000163286	ENST00000295453	D	0.96745	-4.11	2.19	2.19	0.27852	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.93720	3.45	0.58432	D	0.999993	D	0.89917	1.0	D	0.77004	0.989	D	0.98331	1.0533	10	0.87932	D	0	.	11.5762	0.50862	0.0:0.0:1.0:0.0	.	52	P10696	PPBN_HUMAN	T	52	ENSP00000295453:A52T	ENSP00000295453:A52T	A	+	1	0	ALPPL2	232980097	1.000000	0.71417	0.694000	0.30210	0.442000	0.32017	8.858000	0.92256	1.528000	0.49103	0.205000	0.17691	GCC		0.677	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		18	199	0	0	0	1	0	18	199				
NDUFA10	4705	broad.mit.edu	37	2	240961655	240961655	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:240961655T>C	ENST00000252711.2	-	2	278	c.178A>G	c.(178-180)Ata>Gta	p.I60V	NDUFA10_ENST00000407129.3_Missense_Mutation_p.I60V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.I60V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.I60V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	60					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		TCTACAGTTATCACTCTGCTG	0.393																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(178-180)Ata>Gta		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						178.0	159.0	165.0					2																	240961655		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240961655T>C	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.178A>G	2.37:g.240961655T>C	ENSP00000252711:p.Ile60Val					NDUFA10_ENST00000307300.4_Missense_Mutation_p.I60V|NDUFA10_ENST00000407129.3_Missense_Mutation_p.I60V|NDUFA10_ENST00000404554.1_Missense_Mutation_p.I60V	p.I60V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	2	278	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	60					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.178A>G	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020168	0.54576	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	4.54	4.54	0.55810	.	0.046670	0.85682	D	0.000000	D	0.96128	0.8738	L	0.58810	1.83	0.58432	D	0.999999	P;B;P;P	0.51147	0.702;0.28;0.942;0.553	P;B;P;B	0.49421	0.61;0.13;0.541;0.178	D	0.95110	0.8237	10	0.42905	T	0.14	-26.1022	10.8344	0.46679	0.0:0.0:0.0:1.0	.	60;60;65;60	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	V	60	ENSP00000252711:I60V;ENSP00000385697:I60V;ENSP00000411527:I60V;ENSP00000302321:I60V;ENSP00000383975:I60V	ENSP00000252711:I60V	I	-	1	0	NDUFA10	240610328	1.000000	0.71417	0.983000	0.44433	0.504000	0.33889	3.904000	0.56325	2.003000	0.58678	0.383000	0.25322	ATA		0.393	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		13	62	0	0	0	1	0	13	62				
SAA2	6289	broad.mit.edu	37	11	18267020	18267020	+	Silent	SNP	C	C	T	rs200634677		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr11:18267020C>T	ENST00000526900.1	-	4	456	c.273G>A	c.(271-273)gcG>gcA	p.A91A	RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Silent_p.A91A|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000529528.1_Silent_p.A91A|SAA2_ENST00000530400.1_Intron			P0DJI9	SAA2_HUMAN	serum amyloid A2	91					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCGAGTCCTCCGCACCACGGC	0.557																																						ENST00000526900.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(271-273)gcG>gcA		serum amyloid A2							88.0	78.0	81.0					11																	18267020		2199	4293	6492	SO:0001819	synonymous_variant	6289							g.chr11:18267020C>T	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.273G>A	11.37:g.18267020C>T						SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Silent_p.A91A|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Silent_p.A91A|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron	p.A91A							4	456	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Silent	SNP	ENST00000526900.1	37	c.273G>A	CCDS7833.1																																																																																				0.557	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		20	81	0	0	0	1	0	20	81				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	76	1	0	0.000602214	1	0.000611479	5	76				
ZNF721	170960	broad.mit.edu	37	4	435941	435941	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:435941T>A	ENST00000338977.5	-	2	2327	c.2279A>T	c.(2278-2280)gAg>gTg	p.E760V	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E772V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	760					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATGAATTTTCTCATGTCTATT	0.353																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2278-2280)gAg>gTg		zinc finger protein 721							42.0	44.0	43.0					4																	435941		2064	4223	6287	SO:0001583	missense	170960							g.chr4:435941T>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2279A>T	4.37:g.435941T>A	ENSP00000340524:p.Glu760Val					ZNF721_ENST00000511833.2_Missense_Mutation_p.E772V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.E760V							2	2327	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2279A>T		.	.	.	.	.	.	.	.	.	.	T	11.39	1.623638	0.28889	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.06528	3.29;3.29	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.33245	0.995	0.09310	N	1	P;P;P	0.48407	0.91;0.862;0.833	D;P;P	0.65140	0.932;0.587;0.451	T	0.18209	-1.0344	9	0.59425	D	0.04	.	6.3325	0.21279	0.0:0.0:0.0:1.0	.	760;772;772	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	760;772	ENSP00000340524:E760V;ENSP00000428878:E772V	ENSP00000340524:E760V	E	-	2	0	ZNF721	425941	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	0.102000	0.15272	0.561000	0.29186	0.155000	0.16302	GAG		0.353	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	24	0	0	0	1	0	6	24				
TTN	7273	broad.mit.edu	37	2	179476111	179476111	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:179476111T>C	ENST00000591111.1	-	219	46146	c.45922A>G	c.(45922-45924)Aaa>Gaa	p.K15308E	TTN_ENST00000359218.5_Missense_Mutation_p.K8009E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7884E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8076E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K16949E|TTN_ENST00000342992.6_Missense_Mutation_p.K14381E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15308	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGTCTTTGGCAACCACA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50845-50847)Aaa>Gaa		titin							69.0	66.0	67.0					2																	179476111		1980	4164	6144	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476111T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45922A>G	2.37:g.179476111T>C	ENSP00000465570:p.Lys15308Glu					TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7884E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8076E|TTN_ENST00000342992.6_Missense_Mutation_p.K14381E|TTN_ENST00000591111.1_Missense_Mutation_p.K15308E|TTN_ENST00000359218.5_Missense_Mutation_p.K8009E|TTN-AS1_ENST00000456053.1_RNA	p.K16949E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	51069	-			15308			Fibronectin type-III 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50845A>G		.	.	.	.	.	.	.	.	.	.	T	13.72	2.322870	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.95	5.95	0.96441	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56381	0.1981	L	0.49778	1.585	0.53005	D	0.999969	D;D;D;D	0.63046	0.992;0.992;0.992;0.992	P;P;P;P	0.53006	0.715;0.715;0.715;0.715	T	0.59862	-0.7374	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	7884;8009;8076;15308	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14381;7884;8076;8009;7884	ENSP00000343764:K14381E;ENSP00000434586:K7884E;ENSP00000340554:K8076E;ENSP00000352154:K8009E	ENSP00000340554:K8076E	K	-	1	0	TTN	179184356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.991000	0.88244	2.279000	0.76181	0.533000	0.62120	AAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	68	0	0	0	1	0	4	68				
HMGCR	3156	broad.mit.edu	37	5	74641424	74641424	+	Silent	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:74641424T>C	ENST00000287936.4	+	5	547	c.391T>C	c.(391-393)Ttg>Ctg	p.L131L	HMGCR_ENST00000511206.1_Silent_p.L131L|HMGCR_ENST00000343975.5_Silent_p.L131L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	131	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTTCCTACTTTTGATTGACCT	0.318																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(391-393)Ttg>Ctg		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						106.0	103.0	104.0					5																	74641424		2203	4300	6503	SO:0001819	synonymous_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74641424T>C		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.391T>C	5.37:g.74641424T>C						HMGCR_ENST00000343975.5_Silent_p.L131L|HMGCR_ENST00000511206.1_Silent_p.L131L	p.L131L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	5	547	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	131					B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	c.391T>C	CCDS4027.1																																																																																				0.318	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			8	60	0	0	0	1	0	8	60				
CTNNAL1	8727	broad.mit.edu	37	9	111745457	111745457	+	Missense_Mutation	SNP	T	T	C	rs553703596		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:111745457T>C	ENST00000325551.4	-	6	954	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.I290V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I290V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	290					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAAATACTGATAGATGAAATG	0.279																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(868-870)Atc>Gtc		catenin (cadherin-associated protein), alpha-like 1							103.0	96.0	98.0					9																	111745457		2202	4300	6502	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745457T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.868A>G	9.37:g.111745457T>C	ENSP00000320434:p.Ile290Val					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I290V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I290V	p.I290V			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	947	-			290					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.868A>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	0.834	-0.744114	0.03088	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.27256	1.68;1.83;1.69	5.91	-4.23	0.03789	.	0.778683	0.13058	N	0.417094	T	0.10766	0.0263	N	0.04203	-0.255	0.09310	N	1	B;B;B;B	0.15930	0.0;0.015;0.0;0.0	B;B;B;B	0.17722	0.001;0.019;0.001;0.001	T	0.30679	-0.9970	10	0.15499	T	0.54	0.6662	15.2709	0.73699	0.0:0.5498:0.0:0.4502	.	290;290;290;290	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	V	290	ENSP00000363723:I290V;ENSP00000320434:I290V;ENSP00000323351:I290V	ENSP00000320434:I290V	I	-	1	0	CTNNAL1	110785278	0.004000	0.15560	0.016000	0.15963	0.977000	0.68977	-0.469000	0.06648	-1.129000	0.02918	-1.162000	0.01777	ATC		0.279	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		5	46	0	0	0	1	0	5	46				
FAN1	22909	broad.mit.edu	37	15	31229359	31229359	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:31229359A>G	ENST00000362065.4	+	14	3245	c.2954A>G	c.(2953-2955)cAt>cGt	p.H985R		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	985	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CGTCTTTCACATAAGCAGATG	0.423								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(2953-2955)cAt>cGt	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							96.0	96.0	96.0					15																	31229359		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31229359A>G		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2954A>G	15.37:g.31229359A>G	ENSP00000354497:p.His985Arg						p.H985R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			14	3245	+			985			VRR-NUC.		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.2954A>G	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757474	0.31137	.	.	ENSG00000198690	ENST00000362065	D	0.85013	-1.93	5.2	-0.128	0.13506	VRR-NUC (1);	0.461717	0.24465	N	0.038282	T	0.81494	0.4834	M	0.64997	1.995	0.80722	D	1	P;P	0.40360	0.714;0.714	B;B	0.43386	0.34;0.418	T	0.72972	-0.4129	10	0.18710	T	0.47	-0.0474	9.9041	0.41366	0.4239:0.5079:0.0682:0.0	.	985;985	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	R	985	ENSP00000354497:H985R	ENSP00000354497:H985R	H	+	2	0	FAN1	29016651	0.644000	0.27277	0.005000	0.12908	0.924000	0.55760	1.763000	0.38461	-0.194000	0.10399	0.459000	0.35465	CAT		0.423	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		14	102	0	0	0	1	0	14	102				
EP300	2033	broad.mit.edu	37	22	41573205	41573205	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:41573205G>T	ENST00000263253.7	+	31	6709	c.5490G>T	c.(5488-5490)agG>agT	p.R1830S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1830					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCTTCGCAGGAGGATGGCCA	0.602			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5488-5490)agG>agT		E1A binding protein p300							65.0	69.0	68.0					22																	41573205		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573205G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5490G>T	22.37:g.41573205G>T	ENSP00000263253:p.Arg1830Ser					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.R1830S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6709	+			1830					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5490G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045184	0.36085	.	.	ENSG00000100393	ENST00000263253	D	0.90197	-2.63	5.62	0.439	0.16567	.	0.000000	0.53938	D	0.000046	D	0.93726	0.7995	M	0.81497	2.545	0.40846	D	0.983711	D	0.76494	0.999	D	0.78314	0.991	D	0.92204	0.5770	10	0.87932	D	0	-10.4019	8.4469	0.32847	0.1387:0.2294:0.6319:0.0	.	1830	Q09472	EP300_HUMAN	S	1830	ENSP00000263253:R1830S	ENSP00000263253:R1830S	R	+	3	2	EP300	39903151	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	2.161000	0.42358	0.220000	0.20860	-0.219000	0.12488	AGG		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		13	93	1	0	5.50884e-06	1	5.77116e-06	13	93				
CXCR2P1	3580	broad.mit.edu	37	2	218925389	218925389	+	RNA	SNP	G	G	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:218925389G>T	ENST00000439871.1	-	0	991					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		CAGCAAAGATGACCCACATGG	0.547																																						ENST00000439871.1																			0																																																			0							g.chr2:218925389G>T	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925389G>T								NR_002712.1						0	991	-									RNA	SNP	ENST00000439871.1	37																																																																																						0.547	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1	NR_002712		17	67	1	0	1.5739e-10	1	1.67544e-10	17	67				
FMNL1	752	broad.mit.edu	37	17	43311099	43311099	+	Splice_Site	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr17:43311099G>A	ENST00000331495.3	+	5	821		c.e5+1		FMNL1_ENST00000328118.3_Splice_Site|FMNL1_ENST00000592006.1_Splice_Site	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCTCTGTCACGTAAGCCCCCT	0.622																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.e5+1		formin-like 1							121.0	107.0	112.0					17																	43311099		2203	4300	6503	SO:0001630	splice_region_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43311099G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.485+1G>A	17.37:g.43311099G>A						FMNL1_ENST00000328118.3_Splice_Site|FMNL1_ENST00000592006.1_Splice_Site		NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			5	821	+								D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Splice_Site	SNP	ENST00000331495.3	37		CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335361	0.81801	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1831	0.86859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMNL1	40666882	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.771000	0.85420	2.401000	0.81631	0.561000	0.74099	.		0.622	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	Intron	6	68	0	0	0	1	0	6	68				
DNAH10	196385	broad.mit.edu	37	12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T	rs200977125		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:124403289C>T	ENST00000409039.3	+	64	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3649					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGCTACCGGCCAGCAGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17681	0.001		0.0	False		,,,				2504	0.0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(10945-10947)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,3828		0,0,1914	34.0	38.0	37.0		10945	4.9	1.0	12		37	1,8233		0,1,4116	no	missense	DNAH10	NM_207437.3	101	0,1,6030	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	3649/4472	124403289	1,12061	1914	4117	6031	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403289C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10945C>T	12.37:g.124403289C>T	ENSP00000386770:p.Arg3649Trp						p.R3649W	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	10970	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3649					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10945C>T	CCDS9255.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.4	4.289379	0.80914	0.0	1.21E-4	ENSG00000197653	ENST00000409039	T	0.55413	0.52	5.79	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.83399	0.5246	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.90395	0.4398	10	0.72032	D	0.01	.	14.9896	0.71377	0.2587:0.7413:0.0:0.0	.	3649	Q8IVF4	DYH10_HUMAN	W	3649	ENSP00000386770:R3649W	ENSP00000386770:R3649W	R	+	1	2	DNAH10	122969242	0.996000	0.38824	1.000000	0.80357	0.848000	0.48234	0.506000	0.22658	1.394000	0.46624	0.561000	0.74099	CGG		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	36	0	0	0	1	0	5	36				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	229	0	0	0	1	0	6	229				
UNC5B	219699	broad.mit.edu	37	10	73053281	73053281	+	Missense_Mutation	SNP	G	G	A	rs142079000		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:73053281G>A	ENST00000335350.6	+	12	2308	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R620H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	631	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTCAGTGCCCGTGACTGGATC	0.652																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1891-1893)cGt>cAt		unc-5 homolog B (C. elegans)		G	HIS/ARG	0,4406		0,0,2203	93.0	91.0	92.0		1892	4.0	0.1	10	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	UNC5B	NM_170744.4	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	631/946	73053281	3,13003	2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053281G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1892G>A	10.37:g.73053281G>A	ENSP00000334329:p.Arg631His					UNC5B_ENST00000373192.4_Missense_Mutation_p.R620H	p.R631H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			12	2308	+			631			ZU5.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1892G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635617	0.29068	0.0	3.49E-4	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.42513	0.97;0.97	4.9	3.99	0.46301	ZU5 (3);	0.594858	0.17184	N	0.183772	T	0.24812	0.0602	N	0.14661	0.345	0.09310	N	1	P;P	0.45768	0.838;0.866	B;B	0.40741	0.229;0.339	T	0.08452	-1.0721	10	0.59425	D	0.04	-14.6205	7.5093	0.27564	0.0953:0.3287:0.576:0.0	.	620;631	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	H	631;620	ENSP00000334329:R631H;ENSP00000362288:R620H	ENSP00000334329:R631H	R	+	2	0	UNC5B	72723287	0.983000	0.35010	0.062000	0.19696	0.131000	0.20780	4.652000	0.61454	2.279000	0.76181	0.462000	0.41574	CGT		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		20	183	0	0	0	1	0	20	183				
DNM1P47	100216544	broad.mit.edu	37	15	102304869	102304869	+	RNA	SNP	T	T	C	rs202067427		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:102304869T>C	ENST00000561463.1	+	0	12915									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.572																																						ENST00000561463.1																			0																																																			0							g.chr15:102304869T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304869T>C														0	12915	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	20	0	0	0	1	0	3	20				
EMILIN2	84034	broad.mit.edu	37	18	2890715	2890715	+	Missense_Mutation	SNP	C	C	T	rs79649705	byFrequency	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:2890715C>T	ENST00000254528.3	+	4	749	c.590C>T	c.(589-591)aCg>aTg	p.T197M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	197					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCACAAGGACGGTTCTTGAC	0.527													C|||	5	0.000998403	0.0	0.0	5008	,	,		20234	0.004		0.0	False		,,,				2504	0.001					ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(589-591)aCg>aTg		elastin microfibril interfacer 2		C	MET/THR	0,4406		0,0,2203	79.0	79.0	79.0		590	4.3	0.9	18	dbSNP_131	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EMILIN2	NM_032048.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	197/1054	2890715	1,13005	2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2890715C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.590C>T	18.37:g.2890715C>T	ENSP00000254528:p.Thr197Met						p.T197M	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	749	+			197					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.590C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436620	0.25813	0.0	1.16E-4	ENSG00000132205	ENST00000254528	T	0.37915	1.17	5.41	4.29	0.51040	.	0.248741	0.34507	N	0.003908	T	0.21674	0.0522	L	0.31845	0.965	0.29037	N	0.885336	P	0.37612	0.602	B	0.25614	0.062	T	0.08330	-1.0727	10	0.19590	T	0.45	-11.8256	11.7268	0.51714	0.0:0.8933:0.0:0.1067	.	197	Q9BXX0	EMIL2_HUMAN	M	197	ENSP00000254528:T197M	ENSP00000254528:T197M	T	+	2	0	EMILIN2	2880715	0.997000	0.39634	0.903000	0.35520	0.994000	0.84299	3.424000	0.52764	0.918000	0.36919	0.557000	0.71058	ACG		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		13	123	0	0	0	1	0	13	123				
EPB41L3	23136	broad.mit.edu	37	18	5406823	5406823	+	Missense_Mutation	SNP	C	C	T	rs558098862		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:5406823C>T	ENST00000341928.2	-	16	2642	c.2302G>A	c.(2302-2304)Gcc>Acc	p.A768T	EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	768	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A768S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCTGCCTGGCGGCCAGTCGC	0.532																																						ENST00000341928.2																			1	Substitution - Missense(1)	p.A768S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2302-2304)Gcc>Acc		erythrocyte membrane protein band 4.1-like 3							120.0	100.0	107.0					18																	5406823		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5406823C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2302G>A	18.37:g.5406823C>T	ENSP00000343158:p.Ala768Thr					EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T	p.A768T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			16	2642	-			768			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2302G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605429	0.28623	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82433	-1.42;-1.58;-0.06;-0.07;-1.42;-1.61	6.02	4.98	0.66077	.	0.283151	0.40818	N	0.001004	D	0.86802	0.6020	L	0.60455	1.87	0.34986	D	0.754539	P;D;D;P;P;P;P;D	0.89917	0.921;1.0;1.0;0.9;0.826;0.524;0.731;0.971	B;D;D;B;B;B;B;B	0.87578	0.361;0.993;0.998;0.349;0.238;0.155;0.139;0.298	D	0.83537	0.0094	10	0.09084	T	0.74	.	12.5199	0.56054	0.0:0.8598:0.0:0.1402	.	599;40;40;160;478;587;768;40	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	768;478;599;478;40;40;768;587	ENSP00000343158:A768T;ENSP00000441174:A599T;ENSP00000392195:A40T;ENSP00000442233:A40T;ENSP00000341138:A768T;ENSP00000382981:A587T	ENSP00000343158:A768T	A	-	1	0	EPB41L3	5396823	0.513000	0.26194	0.973000	0.42090	0.716000	0.41182	0.855000	0.27805	2.865000	0.98341	0.655000	0.94253	GCC		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		11	87	0	0	0	1	0	11	87				
ZEB2	9839	broad.mit.edu	37	2	145162525	145162525	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:145162525T>C	ENST00000558170.2	-	5	1654	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ZEB2_ENST00000539609.3_Missense_Mutation_p.D133G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D157G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D157G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	157					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCATGACCATCGCGTTCCTC	0.468																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(469-471)gAt>gGt		zinc finger E-box binding homeobox 2							107.0	91.0	97.0					2																	145162525		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145162525T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.470A>G	2.37:g.145162525T>C	ENSP00000454157:p.Asp157Gly					ZEB2_ENST00000539609.3_Missense_Mutation_p.D133G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D157G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D157G	p.D157G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	5	1654	-			157					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.470A>G	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.21|15.21	2.765895|2.765895	0.49574|0.49574	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000431672;ENST00000440875	T;T;T;T;T|.	0.76578|.	-1.03;-1.03;-1.03;-1.03;-1.03|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.045489|.	0.85682|.	D|.	0.000000|.	T|T	0.62024|0.62024	0.2394|0.2394	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.42692|.	0.787;0.565;0.565;0.565|.	B;B;B;B|.	0.39027|.	0.288;0.142;0.142;0.142|.	T|T	0.58589|0.58589	-0.7610|-0.7610	10|5	0.56958|.	D|.	0.05|.	-14.4273|-14.4273	16.1067|16.1067	0.81230|0.81230	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	133;22;156;157|.	F5H814;Q53TD9;A0JP08;O60315|.	.;.;.;ZEB2_HUMAN|.	G|V	152;133;157;157;157;157|123;144	ENSP00000443792:D133G;ENSP00000302501:D157G;ENSP00000386854:D157G;ENSP00000395496:D157G;ENSP00000376601:D157G|.	ENSP00000302501:D157G|.	D|M	-|-	2|1	0|0	ZEB2|ZEB2	144878995|144878995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.255000|2.255000	0.74692|0.74692	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.468	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		10	42	0	0	0	1	0	10	42				
LPHN3	23284	broad.mit.edu	37	4	62903476	62903476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:62903476C>T	ENST00000514591.1	+	23	3744	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000512091.2_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1198*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1117					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAAATGCCTGCGAACACATTG	0.423																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3415-3417)Cga>Tga		latrophilin 3							139.0	139.0	139.0					4																	62903476		1939	4159	6098	SO:0001587	stop_gained	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903476C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3415C>T	4.37:g.62903476C>T	ENSP00000422533:p.Arg1139*					LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.R1139*	p.R1139*			Q9HAR2	LPHN3_HUMAN			23	4162	+			1117					E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	ENST00000514591.1	37	c.3415C>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.191525|10.191525	0.99355|0.99355	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|.	.|.	.|.	5.33|5.33	4.48|4.48	0.54585|0.54585	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37156|.	0.0993|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34329|.	-0.9833|.	3|.	.|0.02654	.|T	.|1	.|.	15.7043|15.7043	0.77565|0.77565	0.138:0.862:0.0:0.0|0.138:0.862:0.0:0.0	.|.	.|.	.|.	.|.	V|X	587|1139;1139;1207;1198;1130;1139;1117;1139;1198;1207;1198;1130;1139;1139;1207;1198;1130	.|.	.|ENSP00000280009:R1139X	A|R	+|+	2|1	0|2	LPHN3|LPHN3	62586071|62586071	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.940000|0.940000	0.58332|0.58332	3.728000|3.728000	0.54991|0.54991	1.356000|1.356000	0.45884|0.45884	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.423	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	84	0	0	0	1	0	7	84				
FAM96A	84191	broad.mit.edu	37	15	64365169	64365169	+	Silent	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:64365169T>C	ENST00000300030.3	-	5	693	c.444A>G	c.(442-444)ttA>ttG	p.L148L	FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	148					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L148F(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAATTTCCCGTAAGTTGGGGT	0.388																																						ENST00000300030.3																			1	Substitution - Missense(1)	p.L148F(1)	lung(1)	kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(442-444)ttA>ttG		family with sequence similarity 96, member A							163.0	138.0	146.0					15																	64365169		2203	4300	6503	SO:0001819	synonymous_variant	84191				chromosome segregation			g.chr15:64365169T>C		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.444A>G	15.37:g.64365169T>C						FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR	p.L148L	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN			5	693	-			148					A6NKS1|B2R5F8|B7Z8Z5	Silent	SNP	ENST00000300030.3	37	c.444A>G	CCDS10189.1																																																																																				0.388	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		17	97	0	0	0	1	0	17	97				
GRIA1	2890	broad.mit.edu	37	5	153144022	153144022	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:153144022G>A	ENST00000285900.5	+	12	2195	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	GRIA1_ENST00000521843.2_Missense_Mutation_p.V549I|GRIA1_ENST00000518142.1_Missense_Mutation_p.V538I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V628I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V618I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V628I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	618					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.V618I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGTTGGTGGCGTCTGGTGGTT	0.552																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.V618I(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1852-1854)Gtc>Atc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						137.0	113.0	121.0					5																	153144022		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144022G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1852G>A	5.37:g.153144022G>A	ENSP00000285900:p.Val618Ile					GRIA1_ENST00000521843.2_Missense_Mutation_p.V549I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V618I|GRIA1_ENST00000518142.1_Missense_Mutation_p.V538I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V628I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V628I	p.V618I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2195	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	618					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1852G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495597	0.85069	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;D;T;T;T	0.97480	1.91;1.91;1.91;-4.4;1.91;1.91;1.91	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	L	0.35487	1.065	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.937;0.999;0.997	D;D;P;D;D	0.83275	0.996;0.996;0.693;0.993;0.95	D	0.94909	0.8063	10	0.10636	T	0.68	.	17.8377	0.88704	0.0:0.0:1.0:0.0	.	628;628;538;618;618	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	618;618;538;572;618;551;549;628;628	ENSP00000285900:V618I;ENSP00000427920:V538I;ENSP00000339343:V618I;ENSP00000427864:V551I;ENSP00000442108:V549I;ENSP00000428994:V628I;ENSP00000415569:V628I	ENSP00000285900:V618I	V	+	1	0	GRIA1	153124215	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	9.632000	0.98428	2.443000	0.82685	0.555000	0.69702	GTC		0.552	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			21	57	0	0	0	1	0	21	57				
C2orf48	348738	broad.mit.edu	37	2	10350627	10350627	+	Silent	SNP	G	G	A	rs372624987		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:10350627G>A	ENST00000381786.3	+	4	673	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CACAGAGGGCGCTGGGCTCCA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17688	0.0		0.0	False		,,,				2504	0.0					ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(382-384)gcG>gcA		chromosome 2 open reading frame 48		G		1,4405	2.1+/-5.4	0,1,2202	63.0	68.0	66.0		384	-2.8	0.0	2		66	0,8600		0,0,4300	no	coding-synonymous	C2orf48	NM_182626.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		128/160	10350627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	348738							g.chr2:10350627G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.384G>A	2.37:g.10350627G>A							p.A128A	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	673	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		128						Silent	SNP	ENST00000381786.3	37	c.384G>A	CCDS1670.1																																																																																				0.582	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		4	146	0	0	0	1	0	4	146				
RUFY4	285180	broad.mit.edu	37	2	218940309	218940309	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:218940309C>T	ENST00000344321.7	+	9	1612	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.S385L|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCT	0.592																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tCg>tTg		RUN and FYVE domain containing 4							31.0	34.0	33.0					2																	218940309		1932	4132	6064	SO:0001583	missense	285180						metal ion binding	g.chr2:218940309C>T	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1094C>T	2.37:g.218940309C>T	ENSP00000345900:p.Ser365Leu					RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S365L|RUFY4_ENST00000463872.1_3'UTR	p.S385L			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564	+		Renal(207;0.0915)	365					Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1154C>T		.	.	.	.	.	.	.	.	.	.	C	4.512	0.095075	0.08681	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.42900	1.58;0.96	4.87	-3.15	0.05233	.	3.602240	0.00447	N	0.000088	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.05835	-1.0861	10	0.27082	T	0.32	3.01	1.471	0.02416	0.3662:0.2975:0.2132:0.1231	.	365	Q6ZNE9	RUFY4_HUMAN	L	365;385	ENSP00000345900:S365L;ENSP00000363270:S385L	ENSP00000345900:S365L	S	+	2	0	RUFY4	218648554	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.774000	0.04684	-0.510000	0.06523	-0.538000	0.04264	TCG		0.592	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	40	0	0	0	1	0	7	40				
NCAM2	4685	broad.mit.edu	37	21	22804447	22804447	+	Nonsense_Mutation	SNP	T	T	A	rs368831351		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:22804447T>A	ENST00000400546.1	+	12	1749	c.1500T>A	c.(1498-1500)taT>taA	p.Y500*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Y358*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	500	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAGTCCCTATGGAGTGAAGA	0.448																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1498-1500)taT>taA		neural cell adhesion molecule 2							66.0	62.0	64.0					21																	22804447		1917	4129	6046	SO:0001587	stop_gained	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804447T>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1500T>A	21.37:g.22804447T>A	ENSP00000383392:p.Tyr500*					NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Y358*	p.Y500*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1749	+		Lung NSC(9;0.195)	500			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	c.1500T>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	40	8.048062	0.98627	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	.	.	.	5.27	0.325	0.15903	.	0.297977	0.38436	N	0.001687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.186	8.6312	0.33919	0.0:0.3118:0.0:0.6882	.	.	.	.	X	500;358	.	ENSP00000284894:Y358X	Y	+	3	2	NCAM2	21726318	0.922000	0.31269	0.997000	0.53966	0.929000	0.56500	-0.161000	0.10026	0.031000	0.15407	-0.484000	0.04775	TAT		0.448	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		11	58	0	0	0	1	0	11	58				
MMP16	4325	broad.mit.edu	37	8	89068388	89068388	+	Silent	SNP	G	G	A	rs200751407	byFrequency	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr8:89068388G>A	ENST00000286614.6	-	8	1622	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	447					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTTTCCCGACGTCCTCCCACC	0.413													g|||	3	0.000599042	0.0	0.0	5008	,	,		11053	0.003		0.0	False		,,,				2504	0.0					ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1339-1341)gaC>gaT		matrix metallopeptidase 16 (membrane-inserted)							120.0	113.0	115.0					8																	89068388		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89068388G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1341C>T	8.37:g.89068388G>A							p.D447D	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			8	1622	-			447			Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1341C>T	CCDS6246.1																																																																																				0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		27	66	0	0	0	1	0	27	66				
SYNJ1	8867	broad.mit.edu	37	21	34058198	34058198	+	Silent	SNP	A	A	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:34058198A>G	ENST00000322229.7	-	8	977	c.978T>C	c.(976-978)gcT>gcC	p.A326A	SYNJ1_ENST00000382491.3_Silent_p.A326A|SYNJ1_ENST00000357345.3_Silent_p.A326A|SYNJ1_ENST00000433931.2_Silent_p.A365A|SYNJ1_ENST00000382499.2_Silent_p.A365A			O43426	SYNJ1_HUMAN	synaptojanin 1	326	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTGGATATCAGCAGCATGTT	0.333																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1093-1095)gcT>gcC		synaptojanin 1							87.0	83.0	85.0					21																	34058198		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34058198A>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.978T>C	21.37:g.34058198A>G						SYNJ1_ENST00000322229.7_Silent_p.A326A|SYNJ1_ENST00000382491.3_Silent_p.A326A|SYNJ1_ENST00000433931.2_Silent_p.A365A|SYNJ1_ENST00000357345.3_Silent_p.A326A	p.A365A	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			9	1094	-			326			SAC.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1095T>C	CCDS54484.1																																																																																				0.333	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	49	0	0	0	1	0	14	49				
UPF2	26019	broad.mit.edu	37	10	12046639	12046639	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:12046639C>T	ENST00000356352.2	-	4	1867	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	UPF2_ENST00000397053.2_Missense_Mutation_p.R465Q|UPF2_ENST00000357604.5_Missense_Mutation_p.R465Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	465					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATAAAAATTCCGAGCATCTTC	0.363																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1393-1395)cGg>cAg		UPF2 regulator of nonsense transcripts homolog (yeast)							110.0	102.0	104.0					10																	12046639		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12046639C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1394G>A	10.37:g.12046639C>T	ENSP00000348708:p.Arg465Gln					UPF2_ENST00000357604.5_Missense_Mutation_p.R465Q|UPF2_ENST00000397053.2_Missense_Mutation_p.R465Q	p.R465Q			Q9HAU5	RENT2_HUMAN			4	1867	-		Renal(717;0.228)	465					A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.1394G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310250	0.95629	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.62639	0.01;0.01;0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.944	T	0.75082	-0.3443	10	0.42905	T	0.14	.	19.0304	0.92953	0.0:1.0:0.0:0.0	.	435;465	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	Q	465;465;435;465;435	ENSP00000348708:R465Q;ENSP00000350221:R465Q;ENSP00000380244:R465Q	ENSP00000313617:R435Q	R	-	2	0	UPF2	12086645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.508000	0.84585	0.563000	0.77884	CGG		0.363	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			8	77	0	0	0	1	0	8	77				
SNAP29	9342	broad.mit.edu	37	22	21213458	21213458	+	Silent	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:21213458C>T	ENST00000215730.7	+	1	188	c.60C>T	c.(58-60)gcC>gcT	p.A20A	PI4KA_ENST00000572273.1_5'Flank|PI4KA_ENST00000255882.6_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	20					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			ACGAAGGCGCCCGGCCGGCCC	0.692																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(58-60)gcC>gcT		synaptosomal-associated protein, 29kDa							8.0	11.0	10.0					22																	21213458		2174	4267	6441	SO:0001819	synonymous_variant	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21213458C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.60C>T	22.37:g.21213458C>T							p.A20A	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		1	188	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	20						Silent	SNP	ENST00000215730.7	37	c.60C>T	CCDS13784.1																																																																																				0.692	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		7	37	0	0	0	1	0	7	37				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	76	0	0	0	1	0	5	76				
PDIA4	9601	broad.mit.edu	37	7	148701024	148701024	+	Silent	SNP	G	G	A	rs374274813		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:148701024G>A	ENST00000286091.4	-	10	2032	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	600	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGATGGTGGGGAAGCCCTCCA	0.542																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1798-1800)ttC>ttT		protein disulfide isomerase family A, member 4		G		0,4406		0,0,2203	88.0	90.0	89.0		1800	4.8	1.0	7		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		600/646	148701024	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701024G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1800C>T	7.37:g.148701024G>A							p.F600F	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	2032	-	Melanoma(164;0.15)		600			Thioredoxin 3.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1800C>T	CCDS5893.1																																																																																				0.542	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		8	80	0	0	0	1	0	8	80				
DHX57	90957	broad.mit.edu	37	2	39053764	39053764	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:39053764G>A	ENST00000295373.6	-	15	2833	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	903	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACTCCTGCAGGAGGTTTTACA	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2707-2709)Cct>Tct		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							103.0	95.0	97.0					2																	39053764		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053764G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2707C>T	2.37:g.39053764G>A	ENSP00000295373:p.Pro903Ser						p.P903S	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			15	2833	-		all_hematologic(82;0.248)	903			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2707C>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.025984|4.025984	0.75390|0.75390	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03065|.	4.06|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Helicase, C-terminal (3);|.	0.000000|.	0.52532|.	D|.	0.000073|.	T|T	0.70482|0.70482	0.3229|0.3229	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	P;D;D|.	0.60575|.	0.908;0.988;0.971|.	P;D;P|.	0.67231|.	0.777;0.95;0.812|.	T|T	0.67055|0.67055	-0.5767|-0.5767	10|5	0.72032|.	D|.	0.01|.	.|.	19.1177|19.1177	0.93348|0.93348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	903;903;295|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	S|F	903|226	ENSP00000295373:P903S|.	ENSP00000295373:P903S|.	P|S	-|-	1|2	0|0	DHX57|DHX57	38907268|38907268	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.728000|0.728000	0.41692|0.41692	9.731000|9.731000	0.98807|0.98807	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	CCT|TCC		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		13	37	0	0	0	1	0	13	37				
OR10J5	127385	broad.mit.edu	37	1	159505651	159505651	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:159505651G>A	ENST00000334857.2	-	1	191	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCAATGCAGATGATAGTCA	0.418																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(145-147)atC>atT		olfactory receptor, family 10, subfamily J, member 5							175.0	146.0	156.0					1																	159505651		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505651G>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.147C>T	1.37:g.159505651G>A							p.I49I	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	191	-	all_hematologic(112;0.0429)		49					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.147C>T	CCDS30910.1																																																																																				0.418	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		27	114	0	0	0	1	0	27	114				
UNC79	57578	broad.mit.edu	37	14	94004514	94004514	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:94004514G>A	ENST00000393151.2	+	12	1302	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	UNC79_ENST00000553484.1_Silent_p.T434T|UNC79_ENST00000555664.1_Silent_p.T434T|UNC79_ENST00000256339.4_Silent_p.T257T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	434					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCATCAACACGCGGGAATGCG	0.567																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1300-1302)acG>acA		unc-79 homolog (C. elegans)							40.0	39.0	39.0					14																	94004514		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94004514G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1302G>A	14.37:g.94004514G>A						UNC79_ENST00000393151.2_Silent_p.T434T|UNC79_ENST00000555664.1_Silent_p.T434T|UNC79_ENST00000256339.4_Silent_p.T257T	p.T434T			Q9P2D8	UNC79_HUMAN			12	1456	+			434					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1302G>A																																																																																					0.567	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	30	0	0	0	1	0	6	30				
WDR59	79726	broad.mit.edu	37	16	74955991	74955991	+	Missense_Mutation	SNP	T	T	C	rs377268861		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr16:74955991T>C	ENST00000262144.6	-	10	870	c.740A>G	c.(739-741)aAt>aGt	p.N247S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	247										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCAATCCATTGCTGAAAGG	0.493																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(739-741)aAt>aGt		WD repeat domain 59		T	SER/ASN	0,4396		0,0,2198	94.0	79.0	84.0		740	5.1	0.9	16		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR59	NM_030581.3	46	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	benign	247/975	74955991	1,12995	2198	4300	6498	SO:0001583	missense	79726							g.chr16:74955991T>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.740A>G	16.37:g.74955991T>C	ENSP00000262144:p.Asn247Ser						p.N247S	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			10	870	-			247					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.740A>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983096	0.53827	0.0	1.16E-4	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70631	-0.5	6.17	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044909	0.85682	D	0.000000	T	0.62159	0.2405	L	0.43152	1.355	0.80722	D	1	B;B	0.31077	0.231;0.307	B;B	0.34452	0.183;0.138	T	0.55101	-0.8193	10	0.10377	T	0.69	-28.1835	13.5131	0.61524	0.0:0.0:0.1302:0.8698	.	247;247	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	S	247;226	ENSP00000262144:N247S	ENSP00000262144:N247S	N	-	2	0	WDR59	73513492	1.000000	0.71417	0.850000	0.33497	0.701000	0.40568	4.161000	0.58170	1.104000	0.41587	0.533000	0.62120	AAT		0.493	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		4	98	0	0	0	1	0	4	98				
HCN1	348980	broad.mit.edu	37	5	45262467	45262467	+	Silent	SNP	C	C	T	rs143994644		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:45262467C>T	ENST00000303230.4	-	8	2286	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	743	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P743P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gagtctgcggcggctgggact	0.637																																						ENST00000303230.4																			1	Substitution - coding silent(1)	p.P743P(1)	lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2227-2229)ccG>ccA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							32.0	34.0	33.0					5																	45262467		2203	4299	6502	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262467C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2229G>A	5.37:g.45262467C>T							p.P743P	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2286	-			743			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2229G>A	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	66	0	0	0	1	0	9	66				
SYNE1	23345	broad.mit.edu	37	6	152776617	152776617	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr6:152776617C>A	ENST00000367255.5	-	24	3437	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1012S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A946S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A936S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A953S|SYNE1_ENST00000495090.2_Missense_Mutation_p.A513S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A953S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A946S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A946S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	946					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTCCTGAGCAATCCGCAGT	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2836-2838)Gct>Tct		spectrin repeat containing, nuclear envelope 1							109.0	104.0	106.0					6																	152776617		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152776617C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2836G>T	6.37:g.152776617C>A	ENSP00000356224:p.Ala946Ser	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.A946S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1012S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A953S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A936S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A946S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A946S|SYNE1_ENST00000495090.2_Missense_Mutation_p.A513S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A953S	p.A946S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	24	3437	-		Ovarian(120;0.0955)	946					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2836G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	35	5.459694	0.96240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000032	T	0.50171	0.1600	M	0.68952	2.095	0.80722	D	1	D;P;D;D;D;P;D	0.89917	0.999;0.941;0.965;0.984;1.0;0.941;0.965	D;P;P;P;D;P;P	0.91635	0.945;0.493;0.69;0.753;0.999;0.493;0.69	T	0.30679	-0.9970	10	0.21540	T	0.41	.	19.3456	0.94361	0.0:1.0:0.0:0.0	.	929;946;513;936;946;946;953	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	S	946;953;946;953;1012;946;936;946;513	ENSP00000356224:A946S;ENSP00000396024:A953S;ENSP00000265368:A946S;ENSP00000390975:A953S;ENSP00000341887:A1012S;ENSP00000356222:A946S;ENSP00000356217:A936S;ENSP00000414510:A946S;ENSP00000438508:A513S	ENSP00000265368:A946S	A	-	1	0	SYNE1	152818310	1.000000	0.71417	0.685000	0.30070	0.972000	0.66771	7.433000	0.80362	2.559000	0.86315	0.655000	0.94253	GCT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		16	76	1	0	0.000308642	1	0.000318287	16	76				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	79	0	0	0	1	0	5	79				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	58	0	0	0	1	0	4	58				
OR4K15	81127	broad.mit.edu	37	14	20444014	20444014	+	Missense_Mutation	SNP	C	C	T	rs201446213		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:20444014C>T	ENST00000305051.5	+	1	412	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGGTTGAGCGCAAGACTAT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		22190	0.0		0.0	False		,,,				2504	0.001					ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(337-339)Cgc>Tgc		olfactory receptor, family 4, subfamily K, member 15							126.0	131.0	130.0					14																	20444014		2203	4297	6500	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444014C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.337C>T	14.37:g.20444014C>T	ENSP00000304077:p.Arg113Cys						p.R113C	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	412	+	all_cancers(95;0.00108)		113					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.337C>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.939	-0.710032	0.03230	.	.	ENSG00000169488	ENST00000305051	T	0.03124	4.04	3.6	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	1.002150	0.08047	N	0.996093	T	0.04497	0.0123	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.42982	-0.9419	10	0.42905	T	0.14	.	3.0888	0.06286	0.2117:0.5497:0.0:0.2385	.	113	Q8NH41	OR4KF_HUMAN	C	113	ENSP00000304077:R113C	ENSP00000304077:R113C	R	+	1	0	OR4K15	19513854	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.218000	0.02976	0.709000	0.31976	0.585000	0.79938	CGC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			24	154	0	0	0	1	0	24	154				
KCNF1	3754	broad.mit.edu	37	2	11053086	11053086	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:11053086G>A	ENST00000295082.1	+	1	1024	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	178					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGAGTCGTCGTGCCCGGCGC	0.682																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(532-534)tcG>tcA		potassium voltage-gated channel, subfamily F, member 1							34.0	45.0	41.0					2																	11053086		2198	4295	6493	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053086G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.534G>A	2.37:g.11053086G>A							p.S178S	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1024	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		178					O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.534G>A	CCDS1676.1																																																																																				0.682	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		5	84	0	0	0	1	0	5	84				
PIGO	84720	broad.mit.edu	37	9	35093455	35093455	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:35093455T>C	ENST00000378617.3	-	5	1296	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Missense_Mutation_p.Y301C|PIGO_ENST00000341666.3_Missense_Mutation_p.Y301C|PIGO_ENST00000361778.2_Missense_Mutation_p.Y301C|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	301					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTGGGGCTATACAGAAAGAG	0.547																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(901-903)tAt>tGt		phosphatidylinositol glycan anchor biosynthesis, class O							85.0	82.0	83.0					9																	35093455		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093455T>C	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.902A>G	9.37:g.35093455T>C	ENSP00000367880:p.Tyr301Cys					PIGO_ENST00000298004.5_Missense_Mutation_p.Y301C|PIGO_ENST00000341666.3_Missense_Mutation_p.Y301C|PIGO_ENST00000361778.2_Missense_Mutation_p.Y301C	p.Y301C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	1296	-			301					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.902A>G	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574372	0.86542	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.3	5.3	0.74995	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.129161	0.53938	D	0.000048	T	0.67230	0.2871	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.75071	-0.3447	10	0.72032	D	0.01	-7.6763	15.4159	0.74966	0.0:0.0:0.0:1.0	.	301;301	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	C	301	ENSP00000298004:Y301C;ENSP00000367880:Y301C;ENSP00000339382:Y301C;ENSP00000354678:Y301C	ENSP00000298004:Y301C	Y	-	2	0	PIGO	35083455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.725000	0.84808	2.226000	0.72624	0.533000	0.62120	TAT		0.547	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		14	54	0	0	0	1	0	14	54				
GP5	2814	broad.mit.edu	37	3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:194118797C>T	ENST00000401815.1	-	1	286	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_ENST00000323007.3_Missense_Mutation_p.G72D			P40197	GPV_HUMAN	glycoprotein V (platelet)	72					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(214-216)gGc>gAc		glycoprotein V (platelet)							55.0	55.0	55.0					3																	194118797		2202	4300	6502	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118797C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.215G>A	3.37:g.194118797C>T	ENSP00000383931:p.Gly72Asp					GP5_ENST00000323007.3_Missense_Mutation_p.G72D	p.G72D			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	286	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	72					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.215G>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277812	0.23307	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	D;D	0.91068	-2.78;-2.78	4.72	3.85	0.44370	.	0.378154	0.19435	N	0.114328	D	0.83949	0.5365	L	0.50333	1.59	0.32552	N	0.532272	B	0.29508	0.246	B	0.26094	0.066	T	0.79132	-0.1929	10	0.19147	T	0.46	.	5.2789	0.15665	0.0:0.5248:0.2315:0.2437	.	72	P40197	GPV_HUMAN	D	72	ENSP00000383931:G72D;ENSP00000319286:G72D	ENSP00000319286:G72D	G	-	2	0	GP5	195600086	0.013000	0.17824	0.935000	0.37517	0.340000	0.28889	0.811000	0.27198	1.292000	0.44672	0.561000	0.74099	GGC		0.632	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		4	137	0	0	0	1	0	4	137				
ORC1	4998	broad.mit.edu	37	1	52847357	52847358	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:52847357_52847358delAG	ENST00000371568.3	-	14	2307_2308	c.2089_2090delCT	c.(2089-2091)ctafs	p.L697fs	ORC1_ENST00000371566.1_Frame_Shift_Del_p.L697fs	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	697	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAAGGCCTTTAGATGCTTGAGC	0.515																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2089-2091)afs		origin recognition complex, subunit 1																																				SO:0001589	frameshift_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52847357_52847358delAG		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2089_2090delCT	1.37:g.52847357_52847358delAG	ENSP00000360623:p.Leu697fs					ORC1_ENST00000371566.1_Frame_Shift_Del_p.L697fs	p.L697fs	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			14	2307_2308	-			697			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Frame_Shift_Del	DEL	ENST00000371568.3	37	c.2089_2090delCT	CCDS566.1																																																																																				0.515	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		10	87						10	87	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		9	43						9	43	---	---	---	---
KRT17P4	339186	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-	rs374561720	byFrequency	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr17:16748911_16748913delGCT	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CGCCCTCAAAGCTGCTGCTGCCA	0.65														2545	0.508187	0.5053	0.536	5008	,	,		12311	0.4067		0.5686	False		,,,				2504	0.5348					ENST00000580363.1																			0				lung(4)	4																																														0							g.chr17:16748911_16748913delGCT																													17.37:g.16748917_16748919delGCT														0	282_284	-									RNA	DEL	ENST00000578037.1	37																																																																																						0.650	AC022596.2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444295.1			4	9						4	9	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303676	53303677	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr19:53303676_53303677delTT	ENST00000457749.2	-	4	1540_1541	c.1421_1422delAA	c.(1420-1422)aaafs	p.K474fs	ZNF28_ENST00000438150.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K421fs	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACCTGAAAACTTTGTCACATTC	0.386																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1261-1263)afs		zinc finger protein 28																																				SO:0001589	frameshift_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303676_53303677delTT	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1421_1422delAA	19.37:g.53303676_53303677delTT	ENSP00000397693:p.Lys474fs					ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000457749.2_Frame_Shift_Del_p.K474fs	p.K421fs			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2155_2156	-			474					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Frame_Shift_Del	DEL	ENST00000457749.2	37	c.1262_1263delAA	CCDS33093.2																																																																																				0.386	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	163						15	163	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680476	61680477	+	lincRNA	INS	-	-	TCT	rs13042292		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr20:61680476_61680477insTCT	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						cctcttcctcctcctcctcctc	0.604																																						ENST00000607802.1																			0																																																			0							g.chr20:61680476_61680477insTCT																													20.37:g.61680476_61680477insTCT						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	INS	ENST00000607802.1	37																																																																																						0.604	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
