#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
DDIAS	220042	broad.mit.edu	37	11	82645030	82645030	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:82645030G>A	ENST00000533655.1	+	6	2862	c.2650G>A	c.(2650-2652)Ggt>Agt	p.G884S	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S|C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		884					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAAGGCATAGGTCTAGGGAA	0.398																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2650-2652)Ggt>Agt		chromosome 11 open reading frame 82							68.0	67.0	67.0					11																	82645030		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645030G>A																												ENST00000533655.1:c.2650G>A	11.37:g.82645030G>A	ENSP00000435421:p.Gly884Ser					C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S	p.G884S	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2862	+			884					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2650G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	7.199	0.593185	0.13875	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.24350	2.18;2.18;1.86	5.83	-0.867	0.10655	.	0.845655	0.10683	N	0.646228	T	0.20820	0.0501	M	0.62723	1.935	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	T	0.27739	-1.0065	9	.	.	.	0.1641	3.9369	0.09310	0.3973:0.0:0.3468:0.2558	.	884	Q8IXT1	NOXIN_HUMAN	S	884;884;583	ENSP00000414687:G884S;ENSP00000435421:G884S;ENSP00000329930:G583S	.	G	+	1	0	C11orf82	82322678	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.168000	0.09925	-0.431000	0.07307	-0.136000	0.14681	GGT		0.398	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			4	46	0	0	0	1	0	4	46				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	94	0	0	0	1	0	5	94				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			28611							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	16	0	0	0	1	0	3	16				
MUC16	94025	broad.mit.edu	37	19	9065747	9065747	+	Silent	SNP	A	A	G			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr19:9065747A>G	ENST00000397910.4	-	3	21902	c.21699T>C	c.(21697-21699)acT>acC	p.T7233T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7235	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCTGCTAGTCTCCAAGA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21697-21699)acT>acC		mucin 16, cell surface associated							197.0	185.0	189.0					19																	9065747		1979	4164	6143	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065747A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21699T>C	19.37:g.9065747A>G							p.T7233T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21902	-			7235			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21699T>C	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	147	0	0	0	1	0	4	147				
IGSF1	3547	broad.mit.edu	37	X	130408639	130408639	+	Missense_Mutation	SNP	G	G	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:130408639G>A	ENST00000361420.3	-	18	3764	c.3685C>T	c.(3685-3687)Cgc>Tgc	p.R1229C	IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.R1220C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1229	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTGGAGGCGGTAGCTGCAG	0.512																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3658-3660)Cgc>Tgc		immunoglobulin superfamily, member 1							188.0	173.0	178.0					X																	130408639		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408639G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3685C>T	X.37:g.130408639G>A	ENSP00000355010:p.Arg1229Cys					IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C|IGSF1_ENST00000361420.3_Missense_Mutation_p.R1229C|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C	p.R1220C			Q8N6C5	IGSF1_HUMAN			24	4568	-			1229			Ig-like C2-type 12.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3658C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961886	0.53400	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.42	4.54	0.55810	Immunoglobulin-like fold (1);	0.532850	0.17539	N	0.170616	T	0.30665	0.0772	M	0.62723	1.935	0.42167	D	0.991629	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.995;0.997	T	0.01198	-1.1421	10	0.48119	T	0.1	.	8.2694	0.31836	0.1081:0.0:0.8919:0.0	.	1220;673;1229	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1220;1229;1220;1234	ENSP00000359947:R1220C;ENSP00000355010:R1229C;ENSP00000359941:R1220C;ENSP00000359940:R1234C	ENSP00000355010:R1229C	R	-	1	0	IGSF1	130236320	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.545000	0.45769	2.410000	0.81850	0.594000	0.82650	CGC		0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			58	137	0	0	0	1	0	58	137				
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C	rs201876441	byFrequency	TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195.0	152.0	165.0					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		6	55	0	0	0	1	0	6	55				
SLC35B1	10237	broad.mit.edu	37	17	47780342	47780342	+	Missense_Mutation	SNP	C	C	G			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr17:47780342C>G	ENST00000240333.6	-	8	915	c.794G>C	c.(793-795)gGt>gCt	p.G265A	SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A			P78383	S35B1_HUMAN	solute carrier family 35, member B1	265					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GGTCAGGGGACCAAAATACAC	0.473																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(793-795)gGt>gCt		solute carrier family 35, member B1							135.0	134.0	134.0					17																	47780342		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780342C>G	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.794G>C	17.37:g.47780342C>G	ENSP00000240333:p.Gly265Ala					SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A	p.G265A			P78383	S35B1_HUMAN			8	915	-			265					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.794G>C	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996303	0.93167	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.70631	-0.5;-0.5;1.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	M	0.92691	3.335	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73380	0.98;0.967	D	0.90491	0.4467	10	0.72032	D	0.01	-2.4574	18.4394	0.90660	0.0:1.0:0.0:0.0	.	198;265	D3DTX1;P78383	.;S35B1_HUMAN	A	265;302;141;141;198	ENSP00000240333:G265A;ENSP00000409548:G302A;ENSP00000423323:G198A	ENSP00000240333:G265A	G	-	2	0	SLC35B1	45135341	1.000000	0.71417	0.938000	0.37757	0.983000	0.72400	7.435000	0.80391	2.664000	0.90586	0.655000	0.94253	GGT		0.473	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		14	27	0	0	0	1	0	14	27				
SCO2	9997	broad.mit.edu	37	22	50962137	50962137	+	Missense_Mutation	SNP	C	C	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr22:50962137C>T	ENST00000543927.1	-	2	910	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SCO2_ENST00000395693.3_Missense_Mutation_p.G235D|SCO2_ENST00000252785.3_Missense_Mutation_p.G235D|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Missense_Mutation_p.G235D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	235	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGAAGAGGCCGTCAGGGTT	0.582																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(703-705)gGc>gAc		SCO2 cytochrome c oxidase assembly protein							167.0	148.0	154.0					22																	50962137		2203	4300	6503	SO:0001583	missense	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962137C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.704G>A	22.37:g.50962137C>T	ENSP00000444433:p.Gly235Asp					SCO2_ENST00000535425.1_Missense_Mutation_p.G235D|SCO2_ENST00000252785.3_Missense_Mutation_p.G235D|SCO2_ENST00000395693.3_Missense_Mutation_p.G235D	p.G235D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	910	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	235			Thioredoxin.		Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	c.704G>A	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625146	0.66901	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25	5.07	5.07	0.68467	Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000003	D	0.99363	0.9776	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98748	1.0719	10	0.87932	D	0	-29.2006	17.4056	0.87472	0.0:1.0:0.0:0.0	.	235	O43819	SCO2_HUMAN	D	235	ENSP00000379046:G235D;ENSP00000444433:G235D;ENSP00000444242:G235D;ENSP00000252785:G235D	ENSP00000252785:G235D	G	-	2	0	SCO2	49309003	1.000000	0.71417	0.804000	0.32291	0.120000	0.20174	6.715000	0.74697	2.544000	0.85801	0.643000	0.83706	GGC		0.582	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		5	97	0	0	0	1	0	5	97				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	13	0	0	0	1	0	3	13				
FAM127C	441518	broad.mit.edu	37	X	134156379	134156379	+	Silent	SNP	G	G	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:134156379G>T	ENST00000391440.1	-	1	180	c.111C>A	c.(109-111)acC>acA	p.T37T		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	37										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAGCCGGTCGGTATCGCCAT	0.632																																						ENST00000391440.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(109-111)acC>acA		family with sequence similarity 127, member C							84.0	92.0	89.0					X																	134156379		2112	4203	6315	SO:0001819	synonymous_variant	441518							g.chrX:134156379G>T	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.111C>A	X.37:g.134156379G>T							p.T37T	NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN			1	180	-	Acute lymphoblastic leukemia(192;0.000127)		37						Silent	SNP	ENST00000391440.1	37	c.111C>A	CCDS43996.1																																																																																				0.632	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		5	98	1	0	0.000602214	1	0.000602214	5	98				
NFE2	4778	broad.mit.edu	37	12	54686887	54686887	+	Silent	SNP	C	C	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr12:54686887C>A	ENST00000540264.2	-	2	902	c.393G>T	c.(391-393)ctG>ctT	p.L131L	NFE2_ENST00000553070.1_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L131L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	131	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCCTGCTGGCAGCCCAATGT	0.577																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(391-393)ctG>ctT		nuclear factor, erythroid 2							102.0	107.0	106.0					12																	54686887		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686887C>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.393G>T	12.37:g.54686887C>A						RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L131L|NFE2_ENST00000553070.1_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L	p.L131L			Q16621	NFE2_HUMAN			2	902	-			131			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.393G>T	CCDS8876.1																																																																																				0.577	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		4	99	1	0	2.56e-06	1	2.78261e-06	4	99				
ZDBF2	57683	broad.mit.edu	37	2	207172767	207172767	+	Missense_Mutation	SNP	T	T	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr2:207172767T>A	ENST00000374423.3	+	5	3901	c.3515T>A	c.(3514-3516)gTc>gAc	p.V1172D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1172							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTCAATAGTCAATCGACCT	0.368																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3514-3516)gTc>gAc		zinc finger, DBF-type containing 2							107.0	103.0	104.0					2																	207172767		1884	4101	5985	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172767T>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3515T>A	2.37:g.207172767T>A	ENSP00000363545:p.Val1172Asp						p.V1172D	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3901	+			1172					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3515T>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.197858	0.38806	.	.	ENSG00000204186	ENST00000374423	T	0.61510	0.1	4.1	1.76	0.24704	.	.	.	.	.	T	0.60366	0.2263	L	0.50333	1.59	0.09310	N	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.49643	-0.8918	9	0.87932	D	0	.	5.577	0.17228	0.0:0.2199:0.0:0.7801	.	1172	Q9HCK1	ZDBF2_HUMAN	D	1172	ENSP00000363545:V1172D	ENSP00000363545:V1172D	V	+	2	0	ZDBF2	206881012	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.596000	0.24044	0.392000	0.25172	-0.256000	0.11100	GTC		0.368	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	61	0	0	0	1	0	6	61				
PAK3	5063	broad.mit.edu	37	X	110435356	110435356	+	Splice_Site	SNP	G	G	A			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:110435356G>A	ENST00000372010.1	+	13	1319	c.877G>A	c.(877-879)Gca>Aca	p.A293T	PAK3_ENST00000425146.1_Splice_Site_p.A278T|PAK3_ENST00000519681.1_Splice_Site_p.A299T|PAK3_ENST00000372007.5_Splice_Site_p.A278T|PAK3_ENST00000262836.4_Splice_Site_p.A293T|PAK3_ENST00000518291.1_Splice_Site_p.A314T|PAK3_ENST00000446737.1_Splice_Site_p.A278T|PAK3_ENST00000360648.4_Splice_Site_p.A314T|PAK3_ENST00000417227.1_Splice_Site_p.A299T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCTTCACAGGGCATCAGGTAC	0.308										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.e13-1		p21 protein (Cdc42/Rac)-activated kinase 3							121.0	112.0	115.0					X																	110435356		2203	4300	6503	SO:0001630	splice_region_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110435356G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.876-1G>A	X.37:g.110435356G>A		TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Splice_Site_p.A278_splice|PAK3_ENST00000372007.4_Splice_Site_p.A278_splice|PAK3_ENST00000372010.1_Splice_Site_p.A293_splice|PAK3_ENST00000360648.4_Splice_Site_p.A314_splice|PAK3_ENST00000425146.1_Splice_Site_p.A278_splice|PAK3_ENST00000417227.1_Splice_Site_p.A299_splice|PAK3_ENST00000518291.1_Splice_Site_p.A314_splice|PAK3_ENST00000262836.4_Splice_Site_p.A293_splice	p.A299_splice			O75914	PAK3_HUMAN			13	1337	+			293			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Splice_Site	SNP	ENST00000372010.1	37	c.893_splice	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469038	0.96274	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.35288	1.05	0.80722	D	1	B;P;B;P;B	0.51653	0.078;0.947;0.095;0.661;0.095	B;P;B;P;B	0.53360	0.13;0.724;0.206;0.534;0.206	T	0.69800	-0.5047	10	0.87932	D	0	.	18.7601	0.91847	0.0:0.0:1.0:0.0	.	299;314;293;278;293	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	T	278;278;293;299;278;314;314;299;293	ENSP00000410853:A278T;ENSP00000401982:A278T;ENSP00000361080:A293T;ENSP00000429113:A299T;ENSP00000361077:A278T;ENSP00000428921:A314T;ENSP00000353864:A314T;ENSP00000389172:A299T;ENSP00000262836:A293T	ENSP00000262836:A293T	A	+	1	0	PAK3	110322012	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.455000	0.97625	2.376000	0.81061	0.544000	0.68410	GCA		0.308	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	Missense_Mutation	4	116	0	0	0	1	0	4	116				
DPP3	10072	broad.mit.edu	37	11	66252646	66252646	+	Silent	SNP	G	G	A	rs146040863	byFrequency	TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:66252646G>A	ENST00000360510.2	+	3	338	c.273G>A	c.(271-273)gcG>gcA	p.A91A	DPP3_ENST00000531863.1_Silent_p.A111A|DPP3_ENST00000530165.1_Intron|DPP3_ENST00000532677.1_Silent_p.A110A|DPP3_ENST00000541961.1_Silent_p.A91A|DPP3_ENST00000453114.1_Silent_p.A91A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	91					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A91A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCCCTCAGGCGTTCCTGGTCT	0.587													G|||	25	0.00499201	0.0182	0.0	5008	,	,		16378	0.0		0.001	False		,,,				2504	0.0					ENST00000532677.1																			1	Substitution - coding silent(1)	p.A91A(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(328-330)gcG>gcA		dipeptidyl-peptidase 3		G	,	55,4345	54.2+/-90.2	0,55,2145	91.0	76.0	81.0		273,273	-10.0	0.9	11	dbSNP_134	81	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	DPP3	NM_005700.3,NM_130443.2	,	0,55,6440	AA,AG,GG		0.0,1.25,0.4234	,	91/738,91/738	66252646	55,12935	2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66252646G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.273G>A	11.37:g.66252646G>A						DPP3_ENST00000360510.2_Silent_p.A91A|DPP3_ENST00000453114.1_Silent_p.A91A|DPP3_ENST00000541961.1_Silent_p.A91A|DPP3_ENST00000530165.1_Intron|DPP3_ENST00000531863.1_Silent_p.A111A	p.A110A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			3	731	+			91					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.330G>A	CCDS8141.1																																																																																				0.587	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			3	55	0	0	0	1	0	3	55				
AMOT	154796	broad.mit.edu	37	X	112021835	112021835	+	Missense_Mutation	SNP	C	C	A	rs372882602		TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:112021835C>A	ENST00000524145.1	-	12	3289	c.3215G>T	c.(3214-3216)gGa>gTa	p.G1072V	AMOT_ENST00000371959.3_Missense_Mutation_p.G1072V|AMOT_ENST00000371962.1_Missense_Mutation_p.G840V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	1072					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCTCTTGTCCCAGGATCTG	0.408																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3214-3216)gGa>gTa		angiomotin							237.0	220.0	226.0					X																	112021835		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112021835C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3215G>T	X.37:g.112021835C>A	ENSP00000429013:p.Gly1072Val					AMOT_ENST00000524145.1_Missense_Mutation_p.G1072V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|AMOT_ENST00000371962.1_Missense_Mutation_p.G840V	p.G1072V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			11	3214	-			1072					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.3215G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418079	0.42918	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.28666	1.6;1.67;1.91;1.67	5.87	5.0	0.66597	.	0.589593	0.16920	N	0.194134	T	0.22475	0.0542	N	0.19112	0.55	0.51482	D	0.999921	P	0.46277	0.875	B	0.39706	0.307	T	0.01889	-1.1253	10	0.40728	T	0.16	-1.6692	14.9932	0.71406	0.0:0.8609:0.1391:0.0	.	1072	Q4VCS5	AMOT_HUMAN	V	663;1072;840;1072	ENSP00000305557:G663V;ENSP00000361027:G1072V;ENSP00000361030:G840V;ENSP00000429013:G1072V	ENSP00000305557:G663V	G	-	2	0	AMOT	111908491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.822000	0.55708	1.211000	0.43351	0.600000	0.82982	GGA		0.408	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		73	279	1	0	5.04879e-28	1	5.73726e-28	73	279				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	31	0	0	0	1	0	3	31				
DCHS1	8642	broad.mit.edu	37	11	6645532	6645532	+	Missense_Mutation	SNP	C	C	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:6645532C>T	ENST00000299441.3	-	21	7786	c.7375G>A	c.(7375-7377)Gct>Act	p.A2459T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2459	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCCTGGAGCCCCGTGGTCT	0.617																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7375-7377)Gct>Act		dachsous cadherin-related 1							24.0	26.0	25.0					11																	6645532		2200	4295	6495	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645532C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7375G>A	11.37:g.6645532C>T	ENSP00000299441:p.Ala2459Thr						p.A2459T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	7786	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2459			Cadherin 23.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7375G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	4.207	0.037114	0.08148	.	.	ENSG00000166341	ENST00000299441	T	0.50813	0.73	4.98	-2.33	0.06724	Cadherin (4);Cadherin-like (1);	1.151050	0.06617	N	0.756699	T	0.18718	0.0449	N	0.02403	-0.565	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.12430	T	0.62	.	6.9193	0.24378	0.1459:0.4362:0.0:0.4178	.	2459	Q96JQ0	PCD16_HUMAN	T	2459	ENSP00000299441:A2459T	ENSP00000299441:A2459T	A	-	1	0	DCHS1	6602108	0.000000	0.05858	0.046000	0.18839	0.964000	0.63967	-0.125000	0.10579	-0.623000	0.05618	-1.598000	0.00824	GCT		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	4	0	0	0	1	0	3	4				
PTMA	5757	broad.mit.edu	37	2	232574915	232574915	+	Intron	DEL	G	G	-			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr2:232574915delG	ENST00000341369.7	+	2	236				PTMA_ENST00000409683.1_Intron|PTMA_ENST00000410064.1_Frame_Shift_Del_p.V9fs|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha						transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTGCCGGGGTGGCGGCAGTGG	0.721																																						ENST00000410064.1																			0				lung(3)|ovary(1)|prostate(1)|skin(1)	6						c.(25-27)gtfs		prothymosin, alpha							5.0	5.0	5.0					2																	232574915		816	1915	2731	SO:0001627	intron_variant	5757				transcription, DNA-dependent	nucleus		g.chr2:232574915delG		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.46-1143G>-	2.37:g.232574915delG						PTMA_ENST00000409683.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000341369.7_Intron|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409115.3_Intron	p.V9fs			P06454	PTMA_HUMAN		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	1	425	+		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)	0					Q15249|Q15592	Frame_Shift_Del	DEL	ENST00000341369.7	37	c.27delG	CCDS42833.1																																																																																				0.721	PTMA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332553.1			2	4						2	4	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																						ENST00000296358.4																			1	Deletion - In frame(1)	p.L104_W106delLLW(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(310-318)del		otopetrin 1																																				SO:0001651	inframe_deletion	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228274_4228282delCCACAGCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del						p.LLW104del	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	334_342	-			104					A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	c.310_318delCTGCTGTGG	CCDS3372.1																																																																																				0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	10						6	10	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708817	180708818	+	lincRNA	INS	-	-	T			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr5:180708817_180708818insT	ENST00000412295.2	+	0	238																											gcggtaggcgggggctggagca	0.713																																						ENST00000412295.2																			0																																																			0							g.chr5:180708817_180708818insT																													5.37:g.180708817_180708818insT														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.713	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
SLC35B2	347734	broad.mit.edu	37	6	44224447	44224447	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr6:44224447delG	ENST00000393812.3	-	2	323	c.180delC	c.(178-180)ttcfs	p.F60fs	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs|SLC35B2_ENST00000393810.1_Frame_Shift_Del_p.F60fs|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	60					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCGCCTGAAGTACTGCA	0.547																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(178-180)ttfs		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							121.0	129.0	127.0					6																	44224447		2203	4300	6503	SO:0001589	frameshift_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224447delG	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.180delC	6.37:g.44224447delG	ENSP00000377401:p.Phe60fs					SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Frame_Shift_Del_p.F60fs	p.F60fs	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	323	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		60					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Frame_Shift_Del	DEL	ENST00000393812.3	37	c.180delC	CCDS34462.1																																																																																				0.547	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			11	213						11	213	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			2	4						2	4	---	---	---	---
