#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
ALPK1	80216	broad.mit.edu	37	4	113303581	113303581	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr4:113303581T>A	ENST00000458497.1	+	4	428	c.149T>A	c.(148-150)cTg>cAg	p.L50Q	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	50							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAGGACCCTGATCCAGGAG	0.478																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(148-150)cTg>cAg		alpha-kinase 1							73.0	67.0	69.0					4																	113303581		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113303581T>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.149T>A	4.37:g.113303581T>A	ENSP00000398048:p.Leu50Gln					ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q|ALPK1_ENST00000504176.2_Intron	p.L50Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	4	428	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	50					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.149T>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331480	0.81690	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.29142	1.58;1.58	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.58119	0.2100	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63355	-0.6656	10	0.87932	D	0	-10.9578	15.839	0.78831	0.0:0.0:0.0:1.0	.	50;50	Q96QP1;B3KUH8	ALPK1_HUMAN;.	Q	50;50;25	ENSP00000398048:L50Q;ENSP00000177648:L50Q	ENSP00000177648:L50Q	L	+	2	0	ALPK1	113523030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.230000	0.78097	2.130000	0.65690	0.533000	0.62120	CTG		0.478	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		3	58	0	0	0	1	0	3	58				
POLR1A	25885	broad.mit.edu	37	2	86308796	86308796	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr2:86308796T>A	ENST00000263857.6	-	8	1229	c.851A>T	c.(850-852)gAt>gTt	p.D284V	POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	284					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACCATCATCATCCATTCCCGA	0.403																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(850-852)gAt>gTt		polymerase (RNA) I polypeptide A, 194kDa							103.0	95.0	98.0					2																	86308796		1857	4089	5946	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86308796T>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.851A>T	2.37:g.86308796T>A	ENSP00000263857:p.Asp284Val					POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V	p.D284V			O95602	RPA1_HUMAN			8	1229	-			284					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.851A>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	7.344	0.621519	0.14193	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69040	-0.37;-0.37	5.18	2.76	0.32466	RNA polymerase Rpb1, domain 1 (1);	0.426269	0.27866	N	0.017531	T	0.53690	0.1812	L	0.39020	1.185	0.39819	D	0.972818	B;B	0.30146	0.27;0.064	B;B	0.33960	0.173;0.077	T	0.44847	-0.9301	10	0.32370	T	0.25	-8.8747	8.0118	0.30357	0.0:0.077:0.4663:0.4567	.	284;284	B9ZVN9;O95602	.;RPA1_HUMAN	V	284	ENSP00000263857:D284V;ENSP00000386300:D284V	ENSP00000263857:D284V	D	-	2	0	POLR1A	86162307	0.990000	0.36364	0.966000	0.40874	0.009000	0.06853	2.068000	0.41471	0.382000	0.24878	0.533000	0.62120	GAT		0.403	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		14	61	0	0	0	1	0	14	61				
DNM1P47	100216544	broad.mit.edu	37	15	102293008	102293008	+	RNA	SNP	A	A	G	rs373885613		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr15:102293008A>G	ENST00000561463.1	+	0	1054									DNM1 pseudogene 47									p.K171E(1)									GCGTGGGAACAAGAAGACACT	0.582																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.K171E(1)	kidney(1)																																																100216544							g.chr15:102293008A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293008A>G														0	1054	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	8	0	0	0	1	0	3	8				
TFAM	7019	broad.mit.edu	37	10	60146034	60146034	+	Silent	SNP	A	A	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:60146034A>G	ENST00000487519.1	+	2	682	c.156A>G	c.(154-156)aaA>aaG	p.K52K	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.K52K	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	52					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTCCAAAGAAACCTGTAAGTT	0.363																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(154-156)aaA>aaG		transcription factor A, mitochondrial							154.0	154.0	154.0					10																	60146034		2203	4300	6503	SO:0001819	synonymous_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60146034A>G	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.156A>G	10.37:g.60146034A>G						TFAM_ENST00000373895.3_Silent_p.K52K|TFAM_ENST00000373899.3_3'UTR	p.K52K	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			2	682	+			52					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Silent	SNP	ENST00000487519.1	37	c.156A>G	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	A	4.255	0.046284	0.08243	.	.	ENSG00000108064	ENST00000395377	.	.	.	5.64	2.51	0.30379	.	.	.	.	.	T	0.53318	0.1789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	.	5.3886	0.16231	0.5932:0.0:0.4068:0.0	.	.	.	.	A	34	.	.	T	+	1	0	TFAM	59816040	1.000000	0.71417	0.995000	0.50966	0.240000	0.25518	0.429000	0.21412	0.179000	0.19938	0.533000	0.62120	ACC		0.363	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		4	116	0	0	0	1	0	4	116				
HTR6	3362	broad.mit.edu	37	1	20005098	20005098	+	Silent	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr1:20005098C>T	ENST00000289753.1	+	2	1220	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	251					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	AGTCTGCTGACAGCAGGCGTC	0.627																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(751-753)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						64.0	62.0	62.0					1																	20005098		2203	4300	6503	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005098C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.753C>T	1.37:g.20005098C>T							p.D251D	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1220	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	251					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.753C>T	CCDS197.1																																																																																				0.627	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		17	51	0	0	0	1	0	17	51				
FMN1	342184	broad.mit.edu	37	15	33358928	33358928	+	Intron	SNP	T	T	C			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr15:33358928T>C	ENST00000559047.1	-	3	2043				FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Silent_p.P386P|FMN1_ENST00000558197.1_Silent_p.P386P|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTGGGTTTGTGGTACTCCAG	0.592																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1156-1158)ccA>ccG		formin 1							70.0	72.0	71.0					15																	33358928		2031	4191	6222	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358928T>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1653A>G	15.37:g.33358928T>C						FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.P386P	p.P386P	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1157	-		all_lung(180;1.14e-07)	483			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1158A>G																																																																																					0.592	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		47	57	0	0	0	1	0	47	57				
AWAT1	158833	broad.mit.edu	37	X	69457054	69457054	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chrX:69457054G>C	ENST00000374521.3	+	4	457	c.416G>C	c.(415-417)tGg>tCg	p.W139S	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	139					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACGCTGTCCTGGTTCTTCAAG	0.537																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(415-417)tGg>tCg		acyl-CoA wax alcohol acyltransferase 1							72.0	57.0	62.0					X																	69457054		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69457054G>C	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.416G>C	X.37:g.69457054G>C	ENSP00000363645:p.Trp139Ser					AWAT1_ENST00000480702.1_3'UTR	p.W139S	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			4	457	+			139					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.416G>C	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660230	0.29515	.	.	ENSG00000204195	ENST00000374521	T	0.12361	2.69	4.5	4.5	0.54988	.	0.093223	0.44902	D	0.000414	T	0.11965	0.0291	N	0.03209	-0.39	0.52501	D	0.999953	P	0.47841	0.901	P	0.55055	0.767	T	0.42916	-0.9423	10	0.19590	T	0.45	-5.9742	14.9796	0.71301	0.0:0.0:1.0:0.0	.	139	Q58HT5	AWAT1_HUMAN	S	139	ENSP00000363645:W139S	ENSP00000363645:W139S	W	+	2	0	AWAT1	69373779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.481000	0.53179	2.086000	0.62901	0.456000	0.33151	TGG		0.537	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		3	16	0	0	0	1	0	3	16				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	41	0	0	0	1	0	3	41				
CEBPZ	10153	broad.mit.edu	37	2	37455268	37455268	+	Silent	SNP	A	A	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr2:37455268A>G	ENST00000234170.5	-	2	1213	c.1068T>C	c.(1066-1068)gaT>gaC	p.D356D		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	356					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTACTAATGTATCATGACTTA	0.403																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1066-1068)gaT>gaC		CCAAT/enhancer binding protein (C/EBP), zeta							81.0	88.0	85.0					2																	37455268		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455268A>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1068T>C	2.37:g.37455268A>G							p.D356D	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1213	-		all_hematologic(82;0.21)	356					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.1068T>C	CCDS1787.1																																																																																				0.403	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		34	90	0	0	0	1	0	34	90				
GANAB	23193	broad.mit.edu	37	11	62400986	62400986	+	Splice_Site	SNP	C	C	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:62400986C>G	ENST00000356638.3	-	6	577	c.561G>C	c.(559-561)tcG>tcC	p.S187S	GANAB_ENST00000540933.1_Splice_Site_p.S90S|GANAB_ENST00000534779.1_Splice_Site_p.R95S|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Splice_Site_p.R209S	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	187					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TTGATCCTTGCCTGGAAGGTA	0.607																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.e7-1		glucosidase, alpha; neutral AB							78.0	73.0	75.0					11																	62400986		2202	4299	6501	SO:0001630	splice_region_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400986C>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.561-1G>C	11.37:g.62400986C>G						GANAB_ENST00000540933.1_Splice_Site_p.S90_splice|GANAB_ENST00000356638.3_Splice_Site_p.S187_splice|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Splice_Site_p.R95_splice	p.R209_splice	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			7	642	-			187					A6NC20|Q8WTS9|Q9P0X0	Splice_Site	SNP	ENST00000356638.3	37	c.626_splice	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937973	0.34189	.	.	ENSG00000089597	ENST00000346178;ENST00000534779;ENST00000525994	D;D;T	0.87966	-2.26;-2.32;1.61	5.33	5.33	0.75918	.	0.662303	0.16092	N	0.230028	T	0.77452	0.4132	.	.	.	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.002;0.004	T	0.69335	-0.5172	9	0.10377	T	0.69	.	14.4067	0.67088	0.0:1.0:0.0:0.0	.	95;209	E9PKU7;Q14697-2	.;.	S	209;95;95	ENSP00000340466:R209S;ENSP00000435306:R95S;ENSP00000434805:R95S	ENSP00000340466:R209S	R	-	3	2	GANAB	62157562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.771000	0.95319	0.563000	0.77884	AGG		0.607	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	Silent	18	35	0	0	0	1	0	18	35				
TLE1	7088	broad.mit.edu	37	9	84205889	84205889	+	Silent	SNP	A	A	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr9:84205889A>G	ENST00000376499.3	-	16	2724	c.1660T>C	c.(1660-1662)Ttg>Ctg	p.L554L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	554					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CAAATGGACAAAGTACTGGCT	0.547																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1660-1662)Ttg>Ctg		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							75.0	76.0	76.0					9																	84205889		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205889A>G		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1660T>C	9.37:g.84205889A>G							p.L554L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2724	-			554					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1660T>C	CCDS6661.1																																																																																				0.547	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		17	117	0	0	0	1	0	17	117				
SLC29A3	55315	broad.mit.edu	37	10	73111447	73111447	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:73111447G>A	ENST00000373189.5	+	4	564	c.512G>A	c.(511-513)tGc>tAc	p.C171Y	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	171					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						ACCATTGTCTGCATGGTGATC	0.547																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(511-513)tGc>tAc		solute carrier family 29 (equilibrative nucleoside transporter), member 3							182.0	134.0	150.0					10																	73111447		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73111447G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.512G>A	10.37:g.73111447G>A	ENSP00000362285:p.Cys171Tyr					SLC29A3_ENST00000469204.1_3'UTR	p.C171Y	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			4	564	+			171					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.512G>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093047	0.76756	.	.	ENSG00000198246	ENST00000373189	T	0.57107	0.42	5.83	5.83	0.93111	.	0.102753	0.64402	D	0.000002	T	0.74374	0.3708	M	0.80028	2.48	0.44136	D	0.996922	D	0.58970	0.984	D	0.67900	0.954	T	0.76340	-0.2995	9	0.66056	D	0.02	-32.3077	18.2887	0.90122	0.0:0.0:1.0:0.0	.	171	Q9BZD2	S29A3_HUMAN	Y	171	ENSP00000362285:C171Y	ENSP00000362285:C171Y	C	+	2	0	SLC29A3	72781453	1.000000	0.71417	0.987000	0.45799	0.645000	0.38454	7.560000	0.82277	2.764000	0.94973	0.555000	0.69702	TGC		0.547	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		4	81	0	0	0	1	0	4	81				
RIN1	9610	broad.mit.edu	37	11	66102456	66102456	+	Missense_Mutation	SNP	C	C	T	rs201610229		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:66102456C>T	ENST00000311320.4	-	6	940	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R|RIN1_ENST00000530056.1_Missense_Mutation_p.G167R|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	272					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGGACTGCCCCTGGCAGCACG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15096	0.0		0.001	False		,,,				2504	0.0					ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(814-816)Ggg>Agg		Ras and Rab interactor 1		C	ARG/GLY	0,4396		0,0,2198	23.0	22.0	22.0		814	2.3	0.7	11		22	8,8572		0,8,4282	no	missense	RIN1	NM_004292.2	125	0,8,6480	TT,TC,CC		0.0932,0.0,0.0617	benign	272/784	66102456	8,12968	2198	4290	6488	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102456C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.814G>A	11.37:g.66102456C>T	ENSP00000310406:p.Gly272Arg					RIN1_ENST00000530056.1_Missense_Mutation_p.G167R|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R|RP11-867G23.12_ENST00000526655.1_RNA	p.G272R	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	940	-			272					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.814G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861481	0.17178	0.0	9.32E-4	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.13420	3.11;2.98;2.59	4.26	2.26	0.28386	.	0.917458	0.09005	N	0.862443	T	0.10809	0.0264	N	0.22421	0.69	0.09310	N	1	B;B	0.22541	0.071;0.005	B;B	0.22386	0.039;0.005	T	0.36065	-0.9763	10	0.41790	T	0.15	-10.8817	10.5604	0.45142	0.0:0.6178:0.3822:0.0	.	167;272	E9PNR2;Q13671	.;RIN1_HUMAN	R	272;167;167	ENSP00000310406:G272R;ENSP00000400560:G167R;ENSP00000432798:G167R	ENSP00000310406:G272R	G	-	1	0	RIN1	65859032	0.002000	0.14202	0.663000	0.29738	0.318000	0.28184	0.335000	0.19806	0.326000	0.23384	0.462000	0.41574	GGG		0.667	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		5	37	0	0	0	1	0	5	37				
CSPP1	79848	broad.mit.edu	37	8	68084697	68084697	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr8:68084697C>T	ENST00000262210.5	+	23	2891	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W	CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	989					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGCTAGACATCGGTTGCAAGC	0.388																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2860-2862)Cgg>Tgg		centrosome and spindle pole associated protein 1							88.0	90.0	89.0					8																	68084697		1847	4094	5941	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084697C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2860C>T	8.37:g.68084697C>T	ENSP00000262210:p.Arg954Trp					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W	p.R954W	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2891	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	989					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2860C>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054960	0.75960	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.40476	1.03;1.09;1.09	5.81	3.9	0.45041	.	0.078311	0.51477	D	0.000085	T	0.59487	0.2197	M	0.66939	2.045	0.35050	D	0.760524	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.997;0.997	T	0.71371	-0.4613	10	0.87932	D	0	-12.6442	10.2613	0.43427	0.2717:0.5969:0.1314:0.0	.	112;609;954;989	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	W	954;989;609;609	ENSP00000262210:R954W;ENSP00000415782:R609W;ENSP00000430092:R609W	ENSP00000262210:R954W	R	+	1	2	CSPP1	68247251	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.660000	0.46749	1.440000	0.47531	0.655000	0.94253	CGG		0.388	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		4	62	0	0	0	1	0	4	62				
HIPK1	204851	broad.mit.edu	37	1	114514513	114514513	+	Silent	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr1:114514513C>T	ENST00000369558.1	+	15	3313	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000340480.4_Silent_p.T653T|HIPK1_ENST00000406344.1_Silent_p.T633T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000369559.4_Silent_p.T1027T			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1027	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGTATCACCCCCACAGGGT	0.517																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3079-3081)acC>acT		homeodomain interacting protein kinase 1							135.0	113.0	121.0					1																	114514513		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114514513C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3081C>T	1.37:g.114514513C>T						HIPK1_ENST00000406344.1_Silent_p.T633T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000369559.4_Silent_p.T1027T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000340480.4_Silent_p.T653T	p.T1027T			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	3313	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1027			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.3081C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	5.004	0.186378	0.09495	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.89	0.746	0.18365	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20240	-1.0281	4	.	.	.	.	4.7972	0.13277	0.2003:0.4609:0.0:0.3388	.	.	.	.	S	308	.	.	P	+	1	0	HIPK1	114316036	0.103000	0.21917	0.999000	0.59377	0.903000	0.53119	-0.889000	0.04144	0.110000	0.17919	-0.251000	0.11542	CCC		0.517	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		41	42	0	0	0	1	0	41	42				
MUC16	94025	broad.mit.edu	37	19	9009599	9009599	+	Silent	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr19:9009599G>A	ENST00000397910.4	-	39	39330	c.39127C>T	c.(39127-39129)Ctg>Ttg	p.L13043L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13045	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGACCCTGCAGGACCCTCTCT	0.552																																						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.(39127-39129)Ctg>Ttg		mucin 16, cell surface associated							188.0	157.0	167.0					19																	9009599		2008	4171	6179	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009599G>A	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.39127C>T	19.37:g.9009599G>A							p.L13043L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39330	-			13045			SEA 7.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39127C>T	CCDS54212.1																																																																																				0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	149	0	0	0	1	0	12	149				
FOLH1B	219595	broad.mit.edu	37	11	89392730	89392730	+	RNA	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:89392730G>A	ENST00000532352.1	+	0	553							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTGGCAGGGGCCAAAGGAGT	0.438																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89392730G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392730G>A										Q9HBA9	FOH1B_HUMAN			0	553	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.438	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	29	0	0	0	1	0	3	29				
DIP2A	23181	broad.mit.edu	37	21	47918530	47918530	+	Missense_Mutation	SNP	C	C	T	rs370736191		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr21:47918530C>T	ENST00000417564.2	+	5	460	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R147W|DIP2A_ENST00000318711.7_Missense_Mutation_p.R147W|DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	147					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R147R(2)|p.R83R(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGGCTCTTTACGGCGACCCGG	0.587																																						ENST00000318711.7																			3	Substitution - coding silent(3)	p.R147R(2)|p.R83R(1)	urinary_tract(3)	cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(439-441)Cgg>Tgg		DIP2 disco-interacting protein 2 homolog A (Drosophila)		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4262		0,0,2131	136.0	152.0	147.0		247,439,439,439,439,439,439	3.6	1.0	21		147	1,8471		0,1,4235	no	missense,missense,missense,missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	101,101,101,101,101,101,101	0,1,6366	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	83/1111,147/799,147/1568,147/1572,147/890,147/842,147/813	47918530	1,12733	2131	4236	6367	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918530C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.439C>T	21.37:g.47918530C>T	ENSP00000392066:p.Arg147Trp					DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000417564.2_Missense_Mutation_p.R147W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R147W	p.R147W	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	622	+	Breast(49;0.0933)		147					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.439C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459437	0.63401	0.0	1.18E-4	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.25912	1.84;1.78;1.84;1.82;1.77;1.83;1.84	5.4	3.6	0.41247	.	0.144354	0.47455	D	0.000239	T	0.30070	0.0753	M	0.71581	2.175	0.54753	D	0.999985	B;B;B;B;B;B	0.15141	0.004;0.006;0.007;0.002;0.012;0.005	B;B;B;B;B;B	0.20767	0.001;0.006;0.005;0.001;0.031;0.013	T	0.10382	-1.0632	10	0.72032	D	0.01	-7.8351	11.8016	0.52130	0.0:0.8722:0.0:0.1278	.	147;83;147;147;147;147	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	W	147;83;147;147;147;147;147;147	ENSP00000383133:R147W;ENSP00000400528:R83W;ENSP00000323633:R147W;ENSP00000393434:R147W;ENSP00000430249:R147W;ENSP00000415089:R147W;ENSP00000392066:R147W	ENSP00000323633:R147W	R	+	1	2	DIP2A	46742958	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.875000	0.56108	0.653000	0.30826	0.555000	0.69702	CGG		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		4	153	0	0	0	1	0	4	153				
C1S	716	broad.mit.edu	37	12	7172601	7172601	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:7172601G>A	ENST00000406697.1	+	9	1343	c.715G>A	c.(715-717)Gtt>Att	p.V239I	C1S_ENST00000328916.3_Missense_Mutation_p.V239I|C1S_ENST00000402681.3_Missense_Mutation_p.V72I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I			P09871	C1S_HUMAN	complement component 1, s subcomponent	239	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.V239F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGACAGTTTAGTTGTGCGTGA	0.453																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			1	Substitution - Missense(1)	p.V239F(1)	endometrium(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(715-717)Gtt>Att		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						100.0	100.0	100.0					12																	7172601		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172601G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.715G>A	12.37:g.7172601G>A	ENSP00000385035:p.Val239Ile					C1S_ENST00000328916.3_Missense_Mutation_p.V239I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I|C1S_ENST00000402681.3_Missense_Mutation_p.V72I	p.V239I			P09871	C1S_HUMAN			9	1343	+			239			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.715G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998065	0.35226	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.83	-4.78	0.03209	CUB (5);	2.071210	0.02388	N	0.079421	T	0.12433	0.0302	N	0.25332	0.735	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36383	-0.9750	10	0.45353	T	0.12	.	8.9678	0.35887	0.6102:0.2241:0.1657:0.0	.	239	P09871	C1S_HUMAN	I	239;239;239;72;72	ENSP00000385035:V239I;ENSP00000328173:V239I;ENSP00000354057:V239I;ENSP00000384171:V72I;ENSP00000442298:V72I	ENSP00000328173:V239I	V	+	1	0	C1S	7042862	0.000000	0.05858	0.112000	0.21494	0.781000	0.44180	-0.770000	0.04705	-0.643000	0.05473	0.655000	0.94253	GTT		0.453	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		10	19	0	0	0	1	0	10	19				
GALNT4	8693	broad.mit.edu	37	12	89917393	89917393	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:89917393C>T	ENST00000529983.2	-	1	1190	c.934G>A	c.(934-936)Gga>Aga	p.G312R	POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G140R|POC1B_ENST00000549504.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G309R|POC1B_ENST00000313546.3_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	312	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GCAAACAGTCCTCCAGCCATG	0.468																																						ENST00000548729.1																			0											c.(925-927)Gga>Aga									130.0	130.0	130.0					12																	89917393		1967	4156	6123	SO:0001583	missense	100528030							g.chr12:89917393C>T	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.934G>A	12.37:g.89917393C>T	ENSP00000436604:p.Gly312Arg					POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G312R|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.G140R	p.G309R	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1227	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.925G>A	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788616	0.90367	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.90844	0.12;-2.74;0.12	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.97040	0.9033	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97679	1.0171	9	0.87932	D	0	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	309;312	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	R	309;140;312	ENSP00000447852:G309R;ENSP00000389686:G140R;ENSP00000436604:G312R	ENSP00000436604:G312R	G	-	1	0	GALNT4;RP11-1109F11.4	88441524	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	GGA		0.468	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		8	125	0	0	0	1	0	8	125				
TRRAP	8295	broad.mit.edu	37	7	98533274	98533274	+	Missense_Mutation	SNP	G	G	A	rs140553884		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr7:98533274G>A	ENST00000359863.4	+	28	4296	c.4087G>A	c.(4087-4089)Gta>Ata	p.V1363I	TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I|TRRAP_ENST00000446306.3_Missense_Mutation_p.V1362I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1363					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGTCACTCGTACCTTTACG	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18663	0.0		0.0	False		,,,				2504	0.0					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4087-4089)Gta>Ata		transformation/transcription domain-associated protein		G	ILE/VAL	0,4406		0,0,2203	83.0	76.0	79.0		4087	6.2	0.1	7	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRRAP	NM_003496.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1363/3831	98533274	1,13005	2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533274G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4087G>A	7.37:g.98533274G>A	ENSP00000352925:p.Val1363Ile					TRRAP_ENST00000446306.3_Missense_Mutation_p.V1362I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I	p.V1363I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4296	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1363					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4087G>A	CCDS59066.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.614	1.131952	0.21041	0.0	1.16E-4	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03301	3.98;3.98	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.01489	0.0048	N	0.03983	-0.305	0.80722	D	1	B;B;P	0.35050	0.371;0.177;0.482	B;B;B	0.23275	0.045;0.009;0.038	T	0.66312	-0.5955	10	0.17369	T	0.5	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1363;1077;1363	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	1363;1363;1361	ENSP00000352925:V1363I;ENSP00000347733:V1363I	ENSP00000347733:V1363I	V	+	1	0	TRRAP	98371210	1.000000	0.71417	0.132000	0.22025	0.094000	0.18550	9.619000	0.98369	2.941000	0.99782	0.655000	0.94253	GTA		0.378	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	95	0	0	0	1	0	4	95				
LRP6	4040	broad.mit.edu	37	12	12301949	12301949	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:12301949C>G	ENST00000261349.4	-	14	3209	c.3133G>C	c.(3133-3135)Ggg>Cgg	p.G1045R	LRP6_ENST00000543091.1_Missense_Mutation_p.G1045R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1045	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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 transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACTGATCTCCCATCTAATCTT	0.463																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3133-3135)Ggg>Cgg		low density lipoprotein receptor-related protein 6							264.0	246.0	252.0					12																	12301949		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12301949C>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3133G>C	12.37:g.12301949C>G	ENSP00000261349:p.Gly1045Arg					LRP6_ENST00000543091.1_Missense_Mutation_p.G1045R	p.G1045R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3209	-		Prostate(47;0.0865)	1045			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3133G>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097020	0.94197	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93307	-3.2;-3.2	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000011	D	0.96941	0.9001	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.969	D	0.96911	0.9667	10	0.66056	D	0.02	.	19.8604	0.96781	0.0:1.0:0.0:0.0	.	1045;1045	F5H7J9;O75581	.;LRP6_HUMAN	R	1045	ENSP00000261349:G1045R;ENSP00000442472:G1045R	ENSP00000261349:G1045R	G	-	1	0	LRP6	12193216	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.487000	0.81328	2.699000	0.92147	0.650000	0.86243	GGG		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			74	97	0	0	0	1	0	74	97				
ANKK1	255239	broad.mit.edu	37	11	113266945	113266945	+	Splice_Site	SNP	G	G	T			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:113266945G>T	ENST00000303941.3	+	5	932		c.e5+1			NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGCTTTCTAGGTGCTTATCCA	0.612																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.e5+1		ankyrin repeat and kinase domain containing 1							76.0	80.0	79.0					11																	113266945		1938	4118	6056	SO:0001630	splice_region_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266945G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.838+1G>T	11.37:g.113266945G>T								NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	932	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)							Splice_Site	SNP	ENST00000303941.3	37		CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826964	0.50739	.	.	ENSG00000170209	ENST00000303941	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2135	0.82186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKK1	112772155	1.000000	0.71417	0.449000	0.26957	0.025000	0.11179	9.278000	0.95766	2.285000	0.76669	0.462000	0.41574	.		0.612	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	Intron	4	105	1	0	0.150653	1	0.150653	4	105				
APEH	327	broad.mit.edu	37	3	49722300	49722300	+	IGR	SNP	C	C	A			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr3:49722300C>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.G547V|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACCTCATAGCCCGTGAGAGG	0.582																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1639-1641)gGc>gTc		macrophage stimulating 1 (hepatocyte growth factor-like)							40.0	41.0	41.0					3																	49722300		2201	4293	6494	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49722300C>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722300C>A						AC099668.5_ENST00000563780.1_RNA	p.G547V	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	15	2001	-			533			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1640G>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119922	0.77323	.	.	ENSG00000173531	ENST00000449682	D	0.88354	-2.37	5.5	5.5	0.81552	.	0.000000	0.40818	N	0.001004	D	0.91713	0.7380	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90997	0.4839	10	0.39692	T	0.17	.	17.9501	0.89050	0.0:1.0:0.0:0.0	.	547	G3XAK1	.	V	547	ENSP00000414287:G547V	ENSP00000414287:G547V	G	-	2	0	MST1	49697304	1.000000	0.71417	0.993000	0.49108	0.721000	0.41392	6.545000	0.73883	2.567000	0.86603	0.563000	0.77884	GGC		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	49	1	0	0.0293803	1	0.0304296	4	49				
FBP2	8789	broad.mit.edu	37	9	97355969	97355969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr9:97355969delG	ENST00000375337.3	-	1	106	c.40delC	c.(40-42)ctgfs	p.L14fs		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	14					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TAGCGGGTCAGGGTGAGCATG	0.552																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(40-42)tgfs		fructose-1,6-bisphosphatase 2							134.0	113.0	120.0					9																	97355969		2203	4300	6503	SO:0001589	frameshift_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97355969delG	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.40delC	9.37:g.97355969delG	ENSP00000364486:p.Leu14fs						p.L14fs	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			1	106	-		Acute lymphoblastic leukemia(62;0.136)	14					Q17R39|Q6FI53	Frame_Shift_Del	DEL	ENST00000375337.3	37	c.40delC	CCDS6711.1																																																																																				0.552	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		39	68						39	68	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680655	81680656	+	RNA	INS	-	-	A	rs369157879|rs567381624|rs577659427	byFrequency	TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:81680655_81680656insA	ENST00000480805.1	+	0	722_723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		AGCTTTTGGGGAAAAAAAAAAG	0.545																																						ENST00000480805.1																			0																																																			8512							g.chr10:81680655_81680656insA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680665_81680665dupA								NR_002724.2						0	722_723	+									RNA	INS	ENST00000480805.1	37																																																																																						0.545	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			4	7						4	7	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			399881							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		4	7						4	7	---	---	---	---
KRTAP10-4	386672	broad.mit.edu	37	21	45993755	45993769	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs374679248|rs371402039|rs587770741|rs199944478	byFrequency	TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr21:45993755_45993769delCTGCTGCGCCCCCAG	ENST00000400374.3	+	1	150_164	c.120_134delCTGCTGCGCCCCCAG	c.(118-135)ccctgctgcgcccccagc>ccc	p.CCAPS41del	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	41	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(118-135)ccc>cc		keratin associated protein 10-4			,	484,3132		52,380,1376					,	-1.3	0.6			35	26,7806		0,26,3890	no	coding,intron	TSPEAR,KRTAP10-4	NM_198687.1,NM_144991.2	,	52,406,5266	A1A1,A1R,RR		0.332,13.385,4.4549	,	,		510,10938				SO:0001651	inframe_deletion	386672					keratin filament		g.chr21:45993755_45993769delCTGCTGCGCCCCCAG	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.120_134delCTGCTGCGCCCCCAG	21.37:g.45993755_45993769delCTGCTGCGCCCCCAG	ENSP00000383225:p.Cys41_Ser45del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS40del	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	150_164	+			40			36 X 5 AA repeats of C-C-X(3).		Q08AS0	In_Frame_Del	DEL	ENST00000400374.3	37	c.120_134delCTGCTGCGCCCCCAG	CCDS42957.1																																																																																				0.698	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		9	18						9	18	---	---	---	---
