#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
SYNCRIP	10492	broad.mit.edu	37	6	86333756	86333756	+	Silent	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr6:86333756C>A	ENST00000369622.3	-	7	1241	c.741G>T	c.(739-741)gtG>gtT	p.V247V	SYNCRIP_ENST00000355238.6_Silent_p.V247V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	247	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAATAGAGCCCACAAAAAGCC	0.358																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(739-741)gtG>gtT		synaptotagmin binding, cytoplasmic RNA interacting protein							98.0	95.0	96.0					6																	86333756		2203	4300	6503	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86333756C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.741G>T	6.37:g.86333756C>A						SYNCRIP_ENST00000369622.3_Silent_p.V247V	p.V247V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	7	947	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	247			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.741G>T	CCDS5005.1																																																																																				0.358	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		5	70	1	0	0.184627	1	0.184627	5	70				
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	lincRNA	SNP	C	C	T	rs3738597	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:16953672C>T	ENST00000412962.1	-	0	589							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCGGTCTTCTCGGCCTGCAGC	0.652																																						ENST00000412962.1																			0																																																			0							g.chr1:16953672C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953672C>T														0	589	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	80	0	0	0	1	0	7	80				
TDP1	55775	broad.mit.edu	37	14	90459746	90459746	+	Missense_Mutation	SNP	G	G	A	rs567684858		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr14:90459746G>A	ENST00000335725.4	+	14	1710	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	TDP1_ENST00000555880.1_Missense_Mutation_p.R487H|TDP1_ENST00000393452.3_Missense_Mutation_p.R487H|TDP1_ENST00000393454.2_Missense_Mutation_p.R487H|TDP1_ENST00000357382.3_Missense_Mutation_p.R248H	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	487					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACTTCTGGCCGCAGCAATGCC	0.368								Repair of DNA-protein crosslinks					G|||	1	0.000199681	0.0	0.0	5008	,	,		20298	0.001		0.0	False		,,,				2504	0.0					ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1459-1461)cGc>cAc	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							93.0	85.0	88.0					14																	90459746		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90459746G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1460G>A	14.37:g.90459746G>A	ENSP00000337353:p.Arg487His					TDP1_ENST00000555880.1_Missense_Mutation_p.R487H|TDP1_ENST00000357382.3_Missense_Mutation_p.R248H|TDP1_ENST00000393454.2_Missense_Mutation_p.R487H|TDP1_ENST00000393452.3_Missense_Mutation_p.R487H	p.R487H	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	14	1710	+		all_cancers(154;0.185)	487					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1460G>A	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485199	0.84854	.	.	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.991;0.995;0.995;0.956;0.995	D	0.92584	0.6077	10	0.56958	D	0.05	-19.9864	14.3363	0.66592	0.0716:0.0:0.9284:0.0	.	487;487;487;248;487	G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.;.;.;.;TYDP1_HUMAN	H	487;487;487;248;487	ENSP00000377098:R487H;ENSP00000377099:R487H;ENSP00000337353:R487H;ENSP00000349952:R248H;ENSP00000450628:R487H	ENSP00000337353:R487H	R	+	2	0	TDP1	89529499	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.241000	0.89816	1.407000	0.46875	0.655000	0.94253	CGC		0.368	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		3	39	0	0	0	1	0	3	39				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	15	0	0	0	1	0	3	15				
CCNL1	57018	broad.mit.edu	37	3	156866322	156866322	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:156866322G>A	ENST00000295926.3	-	11	1407	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	430	RS.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GTGACTGCGGGACCTGCTTCT	0.408																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1288-1290)tCc>tTc		cyclin L1							158.0	159.0	159.0					3																	156866322		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866322G>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1289C>T	3.37:g.156866322G>A	ENSP00000295926:p.Ser430Phe					CCNL1_ENST00000461804.1_Intron	p.S430F	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1407	-			430			RS.		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1289C>T	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618954	0.87460	.	.	ENSG00000163660	ENST00000295926	T	0.45276	0.9	5.27	5.27	0.74061	.	0.103283	0.64402	D	0.000002	T	0.65059	0.2655	M	0.66297	2.02	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.66826	-0.5825	10	0.66056	D	0.02	-10.4214	19.263	0.93975	0.0:0.0:1.0:0.0	.	430	Q9UK58	CCNL1_HUMAN	F	430	ENSP00000295926:S430F	ENSP00000295926:S430F	S	-	2	0	CCNL1	158349016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.612000	0.88384	0.557000	0.71058	TCC		0.408	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		4	111	0	0	0	1	0	4	111				
RSL1D1	26156	broad.mit.edu	37	16	11941663	11941663	+	Splice_Site	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr16:11941663C>A	ENST00000571133.1	-	3	318	c.246G>T	c.(244-246)ttG>ttT	p.L82F	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	82					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GAGGCAAGGTCCTACAAAATA	0.333																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.e3-1		ribosomal L1 domain containing 1							76.0	70.0	72.0					16																	11941663		2197	4300	6497	SO:0001630	splice_region_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11941663C>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.246-1G>T	16.37:g.11941663C>A						RSL1D1_ENST00000542106.1_5'UTR	p.L82_splice	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			3	318	-			82					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Splice_Site	SNP	ENST00000571133.1	37	c.245_splice	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733336	0.30684	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.45668	0.89	5.0	-0.712	0.11226	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.261396	0.32918	N	0.005490	T	0.52273	0.1724	M	0.71036	2.16	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.67382	0.951;0.951	T	0.51973	-0.8637	10	0.87932	D	0	.	4.383	0.11304	0.0:0.384:0.1673:0.4487	.	82;82	Q32Q62;O76021	.;RL1D1_HUMAN	F	82	ENSP00000347897:L82F	ENSP00000347897:L82F	L	-	3	2	RSL1D1	11849164	0.805000	0.28982	0.332000	0.25469	0.017000	0.09413	0.239000	0.18023	0.227000	0.20999	0.462000	0.41574	TTG		0.333	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	Missense_Mutation	6	57	1	0	0.00198382	1	0.00226722	6	57				
CHST1	8534	broad.mit.edu	37	11	45671609	45671609	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr11:45671609G>A	ENST00000308064.2	-	4	1535	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	289					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CACGGGGGCCGCATGAGGCCG	0.617																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(865-867)Cgg>Tgg		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							87.0	77.0	80.0					11																	45671609		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671609G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.865C>T	11.37:g.45671609G>A	ENSP00000309270:p.Arg289Trp						p.R289W	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1535	-			289					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.865C>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821565	0.71028	.	.	ENSG00000175264	ENST00000308064	T	0.76316	-1.01	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.062547	0.64402	D	0.000005	D	0.86422	0.5929	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.70935	0.971	D	0.85721	0.1325	10	0.37606	T	0.19	-19.3412	18.0436	0.89326	0.0:0.0:1.0:0.0	.	289	O43916	CHST1_HUMAN	W	289	ENSP00000309270:R289W	ENSP00000309270:R289W	R	-	1	2	CHST1	45628185	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	5.503000	0.66962	2.252000	0.74401	0.462000	0.41574	CGG		0.617	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		4	89	0	0	0	1	0	4	89				
DNAJB5	25822	broad.mit.edu	37	9	34993218	34993218	+	5'UTR	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:34993218T>C	ENST00000541010.1	+	0	3000				DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000454002.2_Silent_p.G68G|DNAJB5_ENST00000453597.3_Silent_p.G110G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGTGCTGGTCCAGTGGCTG	0.502																																						ENST00000454002.2																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(202-204)ggT>ggC		DnaJ (Hsp40) homolog, subfamily B, member 5							56.0	62.0	60.0					9																	34993218		2203	4300	6503	SO:0001623	5_prime_UTR_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993218T>C	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.-13T>C	9.37:g.34993218T>C						DNAJB5_ENST00000541010.1_5'UTR|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G	p.G68G	NM_001135005.2	NP_001128477.1	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	585	+			0			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.204T>C	CCDS35007.1																																																																																				0.502	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			6	31	0	0	0	1	0	6	31				
EFCAB13	124989	broad.mit.edu	37	17	45455257	45455257	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:45455257A>G	ENST00000331493.2	+	13	1909	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	500	EF-hand 1.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TGTGACAGACACTAGTAGAAA	0.323																																						ENST00000331493.2																			0											c.(1498-1500)Act>Gct		EF-hand calcium binding domain 13							50.0	54.0	53.0					17																	45455257		2203	4297	6500	SO:0001583	missense	124989							g.chr17:45455257A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1498A>G	17.37:g.45455257A>G	ENSP00000332111:p.Thr500Ala					EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	p.T500A	NM_152347.4	NP_689560.3					13	1909	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1498A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166689	0.57476	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.64085	0.31;-0.08;0.92	3.39	-0.606	0.11619	EF-hand-like domain (1);	0.839255	0.10312	N	0.689840	T	0.59183	0.2175	M	0.62723	1.935	0.09310	N	1	P;P;P	0.49783	0.859;0.928;0.928	P;P;P	0.51895	0.451;0.683;0.683	T	0.48340	-0.9044	10	0.27082	T	0.32	-4.8744	0.523	0.00615	0.4291:0.2311:0.1345:0.2052	.	452;500;404	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	500;404;452;26	ENSP00000332111:T500A;ENSP00000430048:T404A;ENSP00000429566:T26A	ENSP00000332111:T500A	T	+	1	0	C17orf57	42810256	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	0.511000	0.22739	-0.265000	0.09352	0.377000	0.23210	ACT		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		3	55	0	0	0	1	0	3	55				
NES	10763	broad.mit.edu	37	1	156642067	156642067	+	Missense_Mutation	SNP	G	G	T	rs148672848		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:156642067G>T	ENST00000368223.3	-	4	2045	c.1913C>A	c.(1912-1914)tCt>tAt	p.S638Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	638	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTTCAAGAGATTTCATTAG	0.393																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1912-1914)tCt>tAt		nestin							74.0	75.0	74.0					1																	156642067		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642067G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1913C>A	1.37:g.156642067G>T	ENSP00000357206:p.Ser638Tyr						p.S638Y	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2045	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		638			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1913C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757682	0.69648	.	.	ENSG00000132688	ENST00000368223	D	0.87966	-2.32	4.87	2.68	0.31781	.	0.000000	0.32328	N	0.006256	T	0.81692	0.4876	M	0.76328	2.33	0.09310	N	0.999999	D	0.56968	0.978	P	0.52267	0.694	T	0.74711	-0.3573	10	0.48119	T	0.1	.	2.1467	0.03789	0.1141:0.1964:0.4855:0.2039	.	638	P48681	NEST_HUMAN	Y	638	ENSP00000357206:S638Y	ENSP00000357206:S638Y	S	-	2	0	NES	154908691	0.002000	0.14202	0.304000	0.25085	0.596000	0.36781	0.447000	0.21710	2.254000	0.74563	0.467000	0.42956	TCT		0.393	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		4	75	1	0	0.00909568	1	0.0095744	4	75				
PCLO	27445	broad.mit.edu	37	7	82430883	82430883	+	Silent	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:82430883T>C	ENST00000333891.9	-	22	15295	c.14958A>G	c.(14956-14958)caA>caG	p.Q4986Q		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTACAGGCTCTTGTCCATTCT	0.353																																						ENST00000333891.8																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14956-14958)caA>caG		piccolo presynaptic cytomatrix protein							113.0	109.0	110.0					7																	82430883		1819	4079	5898	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82430883T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14958A>G	7.37:g.82430883T>C							p.Q4986Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			22	15295	-			4909			C2 2.			Silent	SNP	ENST00000333891.9	37	c.14958A>G	CCDS47630.1																																																																																				0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	70	0	0	0	1	0	4	70				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	48	0	0	0	1	0	4	48				
C19orf44	84167	broad.mit.edu	37	19	16614049	16614049	+	Silent	SNP	G	G	A	rs146360582		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr19:16614049G>A	ENST00000221671.3	+	3	1089	c.933G>A	c.(931-933)acG>acA	p.T311T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.T311T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	311										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCTCCCACACGCCGTCAGTTT	0.562																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(931-933)acG>acA		chromosome 19 open reading frame 44		G		2,4404	4.2+/-10.8	0,2,2201	96.0	93.0	94.0		933	-9.3	0.0	19	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	C19orf44	NM_032207.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		311/658	16614049	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84167							g.chr19:16614049G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.933G>A	19.37:g.16614049G>A						C19orf44_ENST00000594035.1_Silent_p.T311T|CTD-3222D19.2_ENST00000409035.1_Intron	p.T311T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			3	1089	+			311					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.933G>A	CCDS12345.1																																																																																				0.562	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	69	0	0	0	1	0	7	69				
COL11A1	1301	broad.mit.edu	37	1	103428308	103428308	+	Silent	SNP	G	G	A	rs369136682		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:103428308G>A	ENST00000370096.3	-	39	3237	c.2925C>T	c.(2923-2925)acC>acT	p.T975T	COL11A1_ENST00000353414.4_Silent_p.T936T|COL11A1_ENST00000512756.1_Silent_p.T859T|COL11A1_ENST00000358392.2_Silent_p.T987T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	975	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTCTCACCGGTTGGTCCCT	0.438																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2959-2961)acC>acT		collagen, type XI, alpha 1		G	,,,	0,4406		0,0,2203	77.0	75.0	75.0		2808,2925,2961,2577	1.8	1.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	936/1768,975/1807,987/1819,859/1691	103428308	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428308G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2925C>T	1.37:g.103428308G>A						COL11A1_ENST00000512756.1_Silent_p.T859T|COL11A1_ENST00000370096.3_Silent_p.T975T|COL11A1_ENST00000353414.4_Silent_p.T936T	p.T987T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3278	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	975			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.2961C>T	CCDS778.1																																																																																				0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	62	0	0	0	1	0	10	62				
VAV2	7410	broad.mit.edu	37	9	136642579	136642579	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:136642579G>C	ENST00000371850.3	-	23	1928	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	VAV2_ENST00000371851.1_Missense_Mutation_p.L623V|VAV2_ENST00000406606.3_Missense_Mutation_p.L623V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	633	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTTGTACCAGACGACCCTGG	0.572																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1867-1869)Ctg>Gtg		vav 2 guanine nucleotide exchange factor							111.0	106.0	108.0					9																	136642579		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136642579G>C		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1897C>G	9.37:g.136642579G>C	ENSP00000360916:p.Leu633Val					VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V	p.L623V			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	21	2192	-			633			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1867C>G	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780473	0.16120	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.06528	3.29;3.29;3.29	4.27	2.21	0.28008	Src homology-3 domain (3);Variant SH3 (1);	0.079753	0.52532	D	0.000079	T	0.07863	0.0197	L	0.48986	1.54	0.49483	D	0.999794	B;P;B	0.44309	0.014;0.832;0.009	B;B;B	0.44224	0.036;0.444;0.022	T	0.41034	-0.9531	10	0.18710	T	0.47	.	11.1869	0.48662	0.1795:0.0:0.8205:0.0	.	623;633;623	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	V	633;623;623;623	ENSP00000360916:L633V;ENSP00000360917:L623V;ENSP00000385362:L623V	ENSP00000317258:L623V	L	-	1	2	VAV2	135632400	1.000000	0.71417	0.983000	0.44433	0.658000	0.38924	1.978000	0.40598	0.998000	0.38996	0.655000	0.94253	CTG		0.572	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			15	88	0	0	0	1	0	15	88				
RP1	6101	broad.mit.edu	37	8	55533943	55533943	+	Silent	SNP	C	C	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr8:55533943C>G	ENST00000220676.1	+	2	565	c.417C>G	c.(415-417)ccC>ccG	p.P139P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	139					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCACCGCCCCACCCCGTAG	0.697																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(415-417)ccC>ccG		retinitis pigmentosa 1 (autosomal dominant)							27.0	33.0	31.0					8																	55533943		2192	4294	6486	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533943C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.417C>G	8.37:g.55533943C>G							p.P139P	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	565	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	139						Silent	SNP	ENST00000220676.1	37	c.417C>G	CCDS6160.1																																																																																				0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	58	0	0	0	1	0	5	58				
CTSG	1511	broad.mit.edu	37	14	25043007	25043007	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr14:25043007C>T	ENST00000216336.2	-	5	640	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	202	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGGGGGCCTCCGGAATCCCCC	0.602																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(604-606)Gga>Aga		cathepsin G							64.0	71.0	69.0					14																	25043007		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043007C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.604G>A	14.37:g.25043007C>T	ENSP00000216336:p.Gly202Arg						p.G202R	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	640	-			202			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.604G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234588	0.39498	.	.	ENSG00000100448	ENST00000216336	D	0.99871	-7.35	4.63	3.74	0.42951	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37393	N	0.002113	D	0.99883	0.9944	H	0.97186	3.955	0.41292	D	0.986989	D	0.76494	0.999	D	0.75020	0.985	D	0.97050	0.9763	10	0.72032	D	0.01	.	9.3608	0.38195	0.0:0.8975:0.0:0.1025	.	202	P08311	CATG_HUMAN	R	202	ENSP00000216336:G202R	ENSP00000216336:G202R	G	-	1	0	CTSG	24112847	0.948000	0.32251	0.783000	0.31826	0.038000	0.13279	3.378000	0.52432	1.265000	0.44215	0.549000	0.68633	GGA		0.602	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		4	95	0	0	0	1	0	4	95				
OR6C76	390326	broad.mit.edu	37	12	55820588	55820588	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:55820588T>C	ENST00000328314.3	+	1	551	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGCTGCAAATCTCTTGCACA	0.403																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(550-552)aTc>aCc		olfactory receptor, family 6, subfamily C, member 76							114.0	105.0	108.0					12																	55820588		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820588T>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.551T>C	12.37:g.55820588T>C	ENSP00000328402:p.Ile184Thr						p.I184T	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	551	+			184						Missense_Mutation	SNP	ENST00000328314.3	37	c.551T>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	t	18.25	3.581753	0.65992	.	.	ENSG00000185821	ENST00000328314	T	0.00158	8.65	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.145480	0.31123	U	0.008211	T	0.00328	0.0010	M	0.74647	2.275	0.25600	N	0.98661	P	0.49185	0.92	P	0.53266	0.722	T	0.44620	-0.9316	10	0.87932	D	0	.	13.473	0.61292	0.0:0.0:0.0:1.0	.	184	A6NM76	O6C76_HUMAN	T	184	ENSP00000328402:I184T	ENSP00000328402:I184T	I	+	2	0	OR6C76	54106855	0.022000	0.18835	0.363000	0.25875	0.964000	0.63967	1.635000	0.37134	1.907000	0.55213	0.434000	0.28630	ATC		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		6	70	0	0	0	1	0	6	70				
MON2	23041	broad.mit.edu	37	12	62979092	62979092	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:62979092G>A	ENST00000393632.2	+	33	5109	c.4718G>A	c.(4717-4719)cGt>cAt	p.R1573H	MON2_ENST00000551397.1_5'Flank|MON2_ENST00000546600.1_Missense_Mutation_p.R1573H|MON2_ENST00000393629.2_Missense_Mutation_p.R1567H|MON2_ENST00000552738.1_Missense_Mutation_p.R1544H|MON2_ENST00000280379.6_Missense_Mutation_p.R1574H|MON2_ENST00000393630.3_Missense_Mutation_p.R1574H	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1573					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTGATATTCGTTTGAGAGAG	0.313																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(4720-4722)cGt>cAt		MON2 homolog (S. cerevisiae)							70.0	70.0	70.0					12																	62979092		2203	4299	6502	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62979092G>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4718G>A	12.37:g.62979092G>A	ENSP00000377252:p.Arg1573His					MON2_ENST00000280379.6_Missense_Mutation_p.R1574H|MON2_ENST00000546600.1_Missense_Mutation_p.R1573H|MON2_ENST00000393629.2_Missense_Mutation_p.R1567H|MON2_ENST00000552738.1_Missense_Mutation_p.R1544H|MON2_ENST00000393632.2_Missense_Mutation_p.R1573H	p.R1574H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	34	5112	+			1574					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.4721G>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836995	0.91117	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.55234	0.54;0.54;0.53;0.53;0.53;0.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	N	0.14661	0.345	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;0.999;0.698;1.0	D;D;D;B;D	0.70016	0.927;0.967;0.934;0.165;0.95	T	0.56492	-0.7970	9	.	.	.	-12.8803	19.3407	0.94339	0.0:0.0:1.0:0.0	.	1567;1544;1573;442;1573	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	H	1573;1574;1574;1573;1544;1567	ENSP00000377252:R1573H;ENSP00000377250:R1574H;ENSP00000280379:R1574H;ENSP00000447407:R1573H;ENSP00000449215:R1544H;ENSP00000377249:R1567H	.	R	+	2	0	MON2	61265359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.764000	0.98949	2.629000	0.89072	0.563000	0.77884	CGT		0.313	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		9	56	0	0	0	1	0	9	56				
DNAH5	1767	broad.mit.edu	37	5	13700934	13700934	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr5:13700934A>C	ENST00000265104.4	-	78	13642	c.13538T>G	c.(13537-13539)cTt>cGt	p.L4513R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4513					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATTGCAAAGCACCATATT	0.473									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13537-13539)cTt>cGt		dynein, axonemal, heavy chain 5							158.0	147.0	150.0					5																	13700934		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700934A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13538T>G	5.37:g.13700934A>C	ENSP00000265104:p.Leu4513Arg						p.L4513R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			78	13642	-	Lung NSC(4;0.00476)		4513					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13538T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816079	0.90790	.	.	ENSG00000039139	ENST00000265104	T	0.16897	2.31	5.95	5.95	0.96441	Dynein heavy chain (1);	0.068324	0.64402	D	0.000012	T	0.56485	0.1988	H	0.96269	3.795	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.71550	-0.4559	10	0.87932	D	0	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	4513	Q8TE73	DYH5_HUMAN	R	4513	ENSP00000265104:L4513R	ENSP00000265104:L4513R	L	-	2	0	DNAH5	13753934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	2.281000	0.76405	0.528000	0.53228	CTT		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	136	0	0	0	1	0	20	136				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	45	0	0	0	1	0	4	45				
ALLC	55821	broad.mit.edu	37	2	3744989	3744989	+	Nonsense_Mutation	SNP	C	C	T	rs201366958	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr2:3744989C>T	ENST00000252505.3	+	10	955	c.793C>T	c.(793-795)Cga>Tga	p.R265*	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	284					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.R265*(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGCAGTTTTCCGATTGGCACA	0.373										HNSCC(21;0.051)			C|||	3	0.000599042	0.0023	0.0	5008	,	,		19046	0.0		0.0	False		,,,				2504	0.0					ENST00000252505.3																			1	Substitution - Nonsense(1)	p.R265*(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(793-795)Cga>Tga		allantoicase		C	stop/ARG	3,3715		0,3,1856	156.0	153.0	154.0		793	3.5	1.0	2		154	0,8194		0,0,4097	yes	stop-gained	ALLC	NM_018436.3		0,3,5953	TT,TC,CC		0.0,0.0807,0.0252		265/392	3744989	3,11909	1859	4097	5956	SO:0001587	stop_gained	55821						allantoicase activity	g.chr2:3744989C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.793C>T	2.37:g.3744989C>T	ENSP00000252505:p.Arg265*	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.R265*	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	10	955	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	284					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	c.793C>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	36	5.970377	0.97156	8.07E-4	0.0	ENSG00000151360	ENST00000252505	.	.	.	5.47	3.47	0.39725	.	0.124148	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8632	7.3795	0.26847	0.2399:0.668:0.0:0.0921	.	.	.	.	X	265	.	ENSP00000252505:R265X	R	+	1	2	ALLC	3722864	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	1.582000	0.36568	1.302000	0.44855	0.563000	0.77884	CGA		0.373	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			8	116	0	0	0	1	0	8	116				
ZNF502	91392	broad.mit.edu	37	3	44762573	44762573	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:44762573C>A	ENST00000296091.4	+	4	520	c.264C>A	c.(262-264)ttC>ttA	p.F88L	ZNF502_ENST00000449836.1_Missense_Mutation_p.F88L|ZNF502_ENST00000436624.2_Missense_Mutation_p.F88L	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAATAACTTTCATCCACAAAG	0.403																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(262-264)ttC>ttA		zinc finger protein 502							62.0	63.0	63.0					3																	44762573		2202	4300	6502	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762573C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.264C>A	3.37:g.44762573C>A	ENSP00000296091:p.Phe88Leu					ZNF502_ENST00000449836.1_Missense_Mutation_p.F88L|ZNF502_ENST00000436624.2_Missense_Mutation_p.F88L	p.F88L	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	520	+			88						Missense_Mutation	SNP	ENST00000296091.4	37	c.264C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	2.164	-0.391452	0.04932	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.41400	3.5;3.5;3.5;1.0	5.0	-2.76	0.05896	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29518	-1.0009	9	0.10377	T	0.69	-1.0404	5.9426	0.19201	0.0:0.2533:0.2556:0.491	.	88	Q8TBZ5	ZN502_HUMAN	L	88	ENSP00000397390:F88L;ENSP00000296091:F88L;ENSP00000406469:F88L;ENSP00000401717:F88L	ENSP00000296091:F88L	F	+	3	2	ZNF502	44737577	0.000000	0.05858	0.017000	0.16124	0.153000	0.21895	-2.353000	0.01090	-0.864000	0.04078	-0.882000	0.02950	TTC		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		4	74	1	0	0.00909568	1	0.0095744	4	74				
STX16	8675	broad.mit.edu	37	20	57251292	57251292	+	Nonsense_Mutation	SNP	T	T	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr20:57251292T>A	ENST00000371141.4	+	9	1647	c.923T>A	c.(922-924)tTa>tAa	p.L308*	STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	308					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTTTAATATTATTTGTCATC	0.443																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(922-924)tTa>tAa		syntaxin 16							252.0	237.0	242.0					20																	57251292		2203	4300	6503	SO:0001587	stop_gained	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251292T>A	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.923T>A	20.37:g.57251292T>A	ENSP00000360183:p.Leu308*					STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*	p.L308*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1647	+	all_lung(29;0.0175)		308					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Nonsense_Mutation	SNP	ENST00000371141.4	37	c.923T>A	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	T	43	10.209280	0.99360	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5232	0.75881	0.0:0.0:0.0:1.0	.	.	.	.	X	291;291;308;255;287;304;308;202;122	.	.	L	+	2	0	STX16	56684698	1.000000	0.71417	0.054000	0.19295	0.998000	0.95712	6.972000	0.76110	2.317000	0.78254	0.460000	0.39030	TTA		0.443	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		4	181	0	0	0	1	0	4	181				
DNER	92737	broad.mit.edu	37	2	230272041	230272041	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr2:230272041T>G	ENST00000341772.4	-	10	1764	c.1630A>C	c.(1630-1632)Aag>Cag	p.K544Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	544	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGGATCCTTGTACAATTCA	0.542																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1630-1632)Aag>Cag		delta/notch-like EGF repeat containing							115.0	97.0	103.0					2																	230272041		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272041T>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1630A>C	2.37:g.230272041T>G	ENSP00000345229:p.Lys544Gln						p.K544Q	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1764	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	544			EGF-like 9.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1630A>C	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533049	0.45073	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87256	-2.23	5.6	5.6	0.85130	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	L	0.33485	1.01	0.58432	D	0.99999	P	0.38020	0.615	B	0.37091	0.241	D	0.83964	0.0323	10	0.66056	D	0.02	.	14.7645	0.69629	0.0:0.0:0.0:1.0	.	544	Q8NFT8	DNER_HUMAN	Q	544;262	ENSP00000345229:K544Q	ENSP00000345229:K544Q	K	-	1	0	DNER	229980285	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.209000	0.58493	2.135000	0.66039	0.460000	0.39030	AAG		0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		4	69	0	0	0	1	0	4	69				
NPC1L1	29881	broad.mit.edu	37	7	44553094	44553094	+	Silent	SNP	A	A	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:44553094A>C	ENST00000289547.4	-	20	4087	c.4032T>G	c.(4030-4032)ggT>ggG	p.G1344G	NPC1L1_ENST00000381160.3_Silent_p.G1317G|NPC1L1_ENST00000546276.1_Silent_p.G1271G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1344					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGCACCAGCACCTTTGATAG	0.537																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(4030-4032)ggT>ggG		NPC1-like 1	Ezetimibe(DB00973)						119.0	112.0	115.0					7																	44553094		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44553094A>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.4032T>G	7.37:g.44553094A>C						NPC1L1_ENST00000381160.3_Silent_p.G1317G|NPC1L1_ENST00000546276.1_Silent_p.G1271G	p.G1344G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			20	4087	-			1344					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.4032T>G	CCDS5491.1																																																																																				0.537	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		16	70	0	0	0	1	0	16	70				
BTBD6	90135	broad.mit.edu	37	14	105716611	105716611	+	Missense_Mutation	SNP	C	C	T	rs61747006		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr14:105716611C>T	ENST00000392554.3	+	4	1357	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BTBD6_ENST00000327471.3_Missense_Mutation_p.R279C|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000463376.2_Missense_Mutation_p.R279C|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.R354C|BRF1_ENST00000446501.2_5'Flank			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	354						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GTGGCGGTACCGCGGGCGCTG	0.627																																						ENST00000463376.2																			0				endometrium(1)|lung(3)	4						c.(835-837)Cgc>Tgc		BTB (POZ) domain containing 6							36.0	38.0	37.0					14																	105716611		2202	4297	6499	SO:0001583	missense	90135					cytoplasmic mRNA processing body		g.chr14:105716611C>T	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1060C>T	14.37:g.105716611C>T	ENSP00000376337:p.Arg354Cys					BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.R354C|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.R279C|BTBD6_ENST00000536364.1_Missense_Mutation_p.R354C	p.R279C			Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	3	1376	+		Melanoma(154;0.226)	354					Q8IVQ7|Q9BR94	Missense_Mutation	SNP	ENST00000392554.3	37	c.835C>T	CCDS10002.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046102	0.75846	.	.	ENSG00000184887	ENST00000536364;ENST00000537513;ENST00000392554;ENST00000327471	T;T;T;T	0.74947	-0.87;-0.89;-0.87;-0.76	5.03	4.15	0.48705	PHR (1);	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85706	0.1316	10	0.51188	T	0.08	-10.0234	11.2487	0.49013	0.0:0.9098:0.0:0.0902	rs61747006	354	Q96KE9	BTBD6_HUMAN	C	354;354;354;279	ENSP00000443091:R354C;ENSP00000446223:R354C;ENSP00000376337:R354C;ENSP00000329361:R279C	ENSP00000329361:R279C	R	+	1	0	BTBD6	104787656	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.070000	0.50033	1.103000	0.41568	0.563000	0.77884	CGC		0.627	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			9	31	0	0	0	1	0	9	31				
TEKT1	83659	broad.mit.edu	37	17	6716215	6716215	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:6716215C>T	ENST00000338694.2	-	6	916	c.787G>A	c.(787-789)Gca>Aca	p.A263T	TEKT1_ENST00000535086.1_Missense_Mutation_p.A117T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	263						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCTTGAATGCCGTGTCCACC	0.547																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(787-789)Gca>Aca		tektin 1							229.0	188.0	202.0					17																	6716215		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6716215C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.787G>A	17.37:g.6716215C>T	ENSP00000341346:p.Ala263Thr					TEKT1_ENST00000535086.1_Missense_Mutation_p.A117T	p.A263T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			6	916	-		Myeloproliferative disorder(207;0.0255)	263					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.787G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123887	0.77436	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03413	3.94;3.94	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.85041	2.73	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.00995	-1.1487	10	0.39692	T	0.17	.	15.7054	0.77577	0.0:1.0:0.0:0.0	.	263	Q969V4	TEKT1_HUMAN	T	263;117	ENSP00000341346:A263T;ENSP00000444142:A117T	ENSP00000341346:A263T	A	-	1	0	TEKT1	6656939	1.000000	0.71417	0.392000	0.26245	0.677000	0.39632	4.769000	0.62300	2.375000	0.81037	0.591000	0.81541	GCA		0.547	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		4	138	0	0	0	1	0	4	138				
MASP1	5648	broad.mit.edu	37	3	186954037	186954037	+	Intron	SNP	A	A	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:186954037A>G	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000296280.6_Missense_Mutation_p.L541P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTCTGGGTGGAGCACCACTCG	0.572																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1621-1623)cTc>cCc		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							81.0	75.0	77.0					3																	186954037		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186954037A>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5231T>C	3.37:g.186954037A>G						MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000495249.1_5'UTR	p.L541P	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1847	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		540			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1622T>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287444	0.59976	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	D;D	0.93133	-3.17;-3.17	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	N	0.10945	0.07	0.80722	D	1	B;B	0.27971	0.196;0.079	B;B	0.33339	0.162;0.099	D	0.85995	0.1491	10	0.51188	T	0.08	.	15.6032	0.76642	1.0:0.0:0.0:0.0	.	428;541	P48740-4;P48740-2	.;.	P	541;428;428	ENSP00000296280:L541P;ENSP00000376264:L428P	ENSP00000296280:L541P	L	-	2	0	MASP1	188436731	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.270000	0.95690	2.270000	0.75569	0.533000	0.62120	CTC		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	41	0	0	0	1	0	3	41				
GPR98	84059	broad.mit.edu	37	5	89943433	89943434	+	Frame_Shift_Del	DEL	AA	AA	-	rs950692	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr5:89943433_89943434delAA	ENST00000405460.2	+	17	3237_3238	c.3141_3142delAA	c.(3139-3144)gcaagafs	p.R1048fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1048	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGCTACTGCAAGAGAGAGAGA	0.416																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3139-3144)gcgafs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943433_89943434delAA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3141_3142delAA	5.37:g.89943433_89943434delAA	ENSP00000384582:p.Arg1048fs						p.AR1047fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3237_3238	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1047					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	c.3141_3142delAA	CCDS47246.1																																																																																				0.416	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	121						7	121	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107790554	107790554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:107790554delC	ENST00000425651.2	-	30	3715	c.3716delG	c.(3715-3717)cgafs	p.R1239fs	NRCAM_ENST00000379024.4_Frame_Shift_Del_p.R1127fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.R1118fs|NRCAM_ENST00000379028.3_Frame_Shift_Del_p.R1239fs|NRCAM_ENST00000413765.2_Frame_Shift_Del_p.R1115fs|NRCAM_ENST00000522550.2_5'UTR	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1239					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGAAGGAGTTCGACTTCCTTT	0.398																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3715-3717)cafs		neuronal cell adhesion molecule							196.0	181.0	187.0					7																	107790554		2203	4300	6503	SO:0001589	frameshift_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107790554delC		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3716delG	7.37:g.107790554delC	ENSP00000401244:p.Arg1239fs					NRCAM_ENST00000413765.2_Frame_Shift_Del_p.R1115fs|NRCAM_ENST00000379024.4_Frame_Shift_Del_p.R1127fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.R1118fs|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Frame_Shift_Del_p.R1239fs	p.R1239fs			Q92823	NRCAM_HUMAN			33	4186	-			1239					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Del	DEL	ENST00000425651.2	37	c.3716delG	CCDS47686.1																																																																																				0.398	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		29	245						29	245	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		3	6						3	6	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)del		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001651	inframe_deletion	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465270_125465272delCTC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del						p.E168del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600_602	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	c.502_504delGAG	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		3	4						3	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312379	23312379	+	RNA	DEL	C	C	-			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr15:23312379delC	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TTGTTAttttctttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312379delC	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312379delC														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	4						4	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	7						4	7	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			5	3						5	3	---	---	---	---
RP11-51L5.5	0	broad.mit.edu	37	17	60366593	60366594	+	RNA	INS	-	-	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:60366593_60366594insA	ENST00000602493.1	-	0	430																											GTTGAGAGAAGAAAAAAAAAAG	0.272																																						ENST00000602493.1																			0																																																			0							g.chr17:60366593_60366594insA																													17.37:g.60366603_60366603dupA														0	430	-									RNA	INS	ENST00000602493.1	37																																																																																						0.272	RP11-51L5.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467668.1			5	10						5	10	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53645401	53645401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr19:53645401delG	ENST00000334197.7	-	5	748	c.680delC	c.(679-681)cctfs	p.P227fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.P228fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GACATTATAAGGCATTTGTTG	0.343																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(682-684)ctfs		zinc finger protein 347							108.0	112.0	111.0					19																	53645401		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645401delG	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.680delC	19.37:g.53645401delG	ENSP00000334146:p.Pro227fs					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs	p.P228fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1109	-			227					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.683delC	CCDS33097.1																																																																																				0.343	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		12	181						12	181	---	---	---	---
