#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
HECW1	23072	broad.mit.edu	37	7	43540839	43540839	+	Silent	SNP	C	C	T	rs367579167		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:43540839C>T	ENST00000395891.2	+	21	4154	c.3549C>T	c.(3547-3549)taC>taT	p.Y1183Y	HECW1_ENST00000453890.1_Silent_p.Y1149Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1183					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTATGTCCTACGTCCCCCTGC	0.438																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3547-3549)taC>taT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C		3,3803		0,3,1900	86.0	80.0	82.0		3549	-0.3	0.9	7		82	0,8222		0,0,4111	no	coding-synonymous	HECW1	NM_015052.3		0,3,6011	TT,TC,CC		0.0,0.0788,0.0249		1183/1607	43540839	3,12025	1903	4111	6014	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43540839C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3549C>T	7.37:g.43540839C>T						HECW1_ENST00000453890.1_Silent_p.Y1149Y	p.Y1183Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			21	4154	+			1183					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.3549C>T	CCDS5469.2																																																																																				0.438	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		46	379	0	0	0	1	0	46	379				
PCSK1N	27344	broad.mit.edu	37	X	48690597	48690597	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:48690597C>T	ENST00000218230.5	-	2	369	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	PCSK1N_ENST00000478242.1_5'Flank	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	90	ProSAAS(1-180). {ECO:0000250}.				neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)	endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)										GGCCCGCGCCCGCTCCTGACG	0.766																																						ENST00000218230.5																			0											c.(268-270)cGg>cAg		proprotein convertase subtilisin/kexin type 1 inhibitor							2.0	3.0	3.0					X																	48690597		1316	2764	4080	SO:0001583	missense	27344				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding	g.chrX:48690597C>T	AF181562	CCDS14307.1	Xp11.23	2008-07-28			ENSG00000102109	ENSG00000102109			17301	protein-coding gene	gene with protein product		300399				10632593	Standard	NM_013271		Approved	SAAS	uc004dkz.4	Q9UHG2	OTTHUMG00000034502	ENST00000218230.5:c.269G>A	X.37:g.48690597C>T	ENSP00000218230:p.Arg90Gln					PCSK1N_ENST00000476838.1_Intron	p.R90Q	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN			2	369	-			90			ProSAAS(1-180) (By similarity).		Q4VC04	Missense_Mutation	SNP	ENST00000218230.5	37	c.269G>A	CCDS14307.1	.	.	.	.	.	.	.	.	.	.	c	18.80	3.700237	0.68501	.	.	ENSG00000102109	ENST00000218230	T	0.56941	0.43	4.31	3.42	0.39159	.	0.000000	0.36815	N	0.002398	T	0.53334	0.1790	N	0.24115	0.695	0.27551	N	0.950493	D	0.89917	1.0	D	0.63597	0.916	T	0.48234	-0.9053	10	0.87932	D	0	-9.5859	9.6244	0.39741	0.0:0.791:0.209:0.0	.	90	Q9UHG2	PCSK1_HUMAN	Q	90	ENSP00000218230:R90Q	ENSP00000218230:R90Q	R	-	2	0	PCSK1N	48575541	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	2.386000	0.44380	0.738000	0.32606	-0.461000	0.05368	CGG		0.766	PCSK1N-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083444.1	NM_013271		3	40	0	0	0	1	0	3	40				
GPHN	10243	broad.mit.edu	37	14	67576890	67576890	+	Missense_Mutation	SNP	C	C	T	rs376650247		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:67576890C>T	ENST00000315266.5	+	13	2349	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000478722.1_Missense_Mutation_p.R443W|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ACAAGTCATGCGGGTTACAAC	0.453			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1327-1329)Cgg>Tgg		gephyrin							191.0	164.0	173.0					14																	67576890		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67576890C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1228C>T	14.37:g.67576890C>T	ENSP00000312771:p.Arg410Trp					GPHN_ENST00000543237.1_Missense_Mutation_p.R456W|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W	p.R443W	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	14	2448	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	410			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1327C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166244	0.78339	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.6	3.65	0.41850	MoeA, N-terminal and linker domain (2);	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;1.0	P;D;P;D	0.76071	0.691;0.987;0.647;0.983	D	0.84843	0.0809	9	0.87932	D	0	-4.9782	13.259	0.60095	0.4098:0.5902:0.0:0.0	.	379;456;410;443	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	W	410;443;456;379	.	ENSP00000303019:R379W	R	+	1	2	GPHN	66646643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.956000	0.40382	1.333000	0.45449	0.655000	0.94253	CGG		0.453	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		7	542	0	0	0	1	0	7	542				
RAD17	5884	broad.mit.edu	37	5	68669707	68669707	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:68669707C>T	ENST00000509734.1	+	4	771	c.93C>T	c.(91-93)ggC>ggT	p.G31G	RAD17_ENST00000361732.2_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000282891.6_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	31					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTGTAGTGGCGTCTCTACTA	0.363								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(91-93)ggC>ggT	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							88.0	86.0	87.0					5																	68669707		2203	4300	6503	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68669707C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.93C>T	5.37:g.68669707C>T						RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Silent_p.G20G|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000354312.3_Silent_p.G20G|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_Silent_p.G20G|RAD17_ENST00000345306.6_Silent_p.G20G|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Silent_p.G31G|RAD17_ENST00000361732.2_Silent_p.G20G	p.G31G			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	4	771	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	31					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.93C>T	CCDS4003.1																																																																																				0.363	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		47	324	0	0	0	1	0	47	324				
PTPRO	5800	broad.mit.edu	37	12	15673188	15673188	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673188G>A	ENST00000281171.4	+	10	2163	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	PTPRO_ENST00000348962.2_Silent_p.V611V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	611	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTACCATGGTGACGTGGGGAG	0.483																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1831-1833)gtG>gtA		protein tyrosine phosphatase, receptor type, O							139.0	127.0	131.0					12																	15673188		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15673188G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1833G>A	12.37:g.15673188G>A						PTPRO_ENST00000348962.2_Silent_p.V611V	p.V611V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			10	2163	+		Hepatocellular(102;0.244)	611					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.1833G>A	CCDS8675.1																																																																																				0.483	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			121	463	0	0	0	1	0	121	463				
OCM	654231	broad.mit.edu	37	7	5923595	5923595	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:5923595C>T	ENST00000242104.5	+	3	361	c.269C>T	c.(268-270)gCg>gTg	p.A90V	OCM_ENST00000416608.1_Missense_Mutation_p.A90V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ATGGCTGCGGCGGATAATGAT	0.498																																						ENST00000242104.5																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(268-270)gCg>gTg		oncomodulin							43.0	39.0	40.0					7																	5923595		2202	4280	6482	SO:0001583	missense	654231						calcium ion binding	g.chr7:5923595C>T	BC069468	CCDS43548.1	7p22.1	2013-01-10						"""EF-hand domain containing"""	8105	protein-coding gene	gene with protein product	"""oncomodulin 1"""	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.269C>T	7.37:g.5923595C>T	ENSP00000242104:p.Ala90Val					OCM_ENST00000416608.1_Missense_Mutation_p.A90V	p.A90V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)	3	361	+		Ovarian(82;0.0694)	90			EF-hand 2.		B9EJH7|P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000242104.5	37	c.269C>T	CCDS43548.1	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119736	0.20877	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	T;T	0.70986	-0.53;-0.53	4.21	4.21	0.49690	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	L	0.35249	1.045	0.49130	D	0.999757	D	0.61080	0.989	B	0.38020	0.263	T	0.58929	-0.7549	10	0.49607	T	0.09	-0.0783	9.4387	0.38655	0.0:0.8982:0.0:0.1018	.	90	P0CE72	ONCO_HUMAN	V	90	ENSP00000401365:A90V;ENSP00000242104:A90V	ENSP00000242104:A90V	A	+	2	0	OCM	5890121	0.958000	0.32768	0.097000	0.21041	0.115000	0.19883	2.095000	0.41729	2.065000	0.61736	0.502000	0.49764	GCG		0.498	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622		7	129	0	0	0	1	0	7	129				
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124.0	126.0	125.0					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	647	0	0	0	1	0	8	647				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	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.S157S(5)		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)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|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.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	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.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	p.S157S	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	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	211	0	0	0	1	0	5	211				
ASB2	51676	broad.mit.edu	37	14	94405527	94405527	+	Missense_Mutation	SNP	T	T	G	rs199833352		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:94405527T>G	ENST00000315988.4	-	6	1888	c.1400A>C	c.(1399-1401)cAc>cCc	p.H467P	ASB2_ENST00000555019.1_Missense_Mutation_p.H515P|RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000556337.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	467					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCCGGCGGGTGCGGGCCGTT	0.692																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1543-1545)cAc>cCc		ankyrin repeat and SOCS box containing 2							11.0	13.0	12.0					14																	94405527		2100	4140	6240	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94405527T>G	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1400A>C	14.37:g.94405527T>G	ENSP00000320675:p.His467Pro					ASB2_ENST00000315988.4_Missense_Mutation_p.H467P	p.H515P	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	8	1974	-		all_cancers(154;0.13)	467					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1544A>C	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.443232	0.63067	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.69685	-0.42;-0.34;-0.32	5.07	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.80847	2.515	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.987;0.994;0.987	T	0.78076	-0.2345	10	0.30854	T	0.27	.	12.1543	0.54068	0.0:0.0:0.1436:0.8564	.	483;515;467	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	P	515;483;467;413;413	ENSP00000451575:H515P;ENSP00000320675:H467P;ENSP00000450940:H413P	ENSP00000320675:H467P	H	-	2	0	ASB2	93475280	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	7.714000	0.84703	0.781000	0.33589	-0.527000	0.04329	CAC		0.692	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			9	47	0	0	0	1	0	9	47				
TTN	7273	broad.mit.edu	37	2	179643640	179643640	+	Missense_Mutation	SNP	G	G	A	rs144011561		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179643640G>A	ENST00000591111.1	-	24	4393	c.4169C>T	c.(4168-4170)cCg>cTg	p.P1390L	TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L|TTN_ENST00000589042.1_Missense_Mutation_p.P1390L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33590					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTAAGTCGGAGCTCCAAG	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20085	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(4168-4170)cCg>cTg		titin		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	73.0	70.0	71.0		4031,4169,4169,4031,4031	5.9	1.0	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	98,98,98,98,98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1344/26927,1390/33424,1390/5605,1344/27052,1344/27119	179643640	2,13004	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179643640G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4169C>T	2.37:g.179643640G>A	ENSP00000465570:p.Pro1390Leu					TTN_ENST00000591111.1_Missense_Mutation_p.P1390L|TTN_ENST00000342992.6_Missense_Mutation_p.P1390L|TTN_ENST00000360870.5_Missense_Mutation_p.P1390L|TTN_ENST00000342175.6_Missense_Mutation_p.P1344L|TTN_ENST00000359218.5_Missense_Mutation_p.P1344L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P1344L	p.P1390L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		24	4393	-			1390					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.4169C>T		.	.	.	.	.	.	.	.	.	.	G	13.65	2.301695	0.40694	2.27E-4	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63255	-0.03;0.06;0.06;0.05;0.2	5.91	5.91	0.95273	Ribonuclease H-like (1);	.	.	.	.	T	0.76227	0.3958	L	0.54323	1.7	0.43683	D	0.996121	D;D;D;D;D	0.89917	0.968;0.968;0.968;0.984;1.0	B;B;B;B;D	0.64687	0.265;0.265;0.265;0.401;0.928	T	0.76594	-0.2902	9	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1344;1344;1344;1390;1390	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1390;1344;1344;1344;1344;1390	ENSP00000343764:P1390L;ENSP00000434586:P1344L;ENSP00000340554:P1344L;ENSP00000352154:P1344L;ENSP00000354117:P1390L	ENSP00000340554:P1344L	P	-	2	0	TTN	179351885	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.805000	0.62561	2.813000	0.96785	0.655000	0.94253	CCG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	318	0	0	0	1	0	17	318				
COG3	83548	broad.mit.edu	37	13	46066374	46066374	+	Silent	SNP	A	A	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:46066374A>T	ENST00000349995.5	+	11	1288	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	392					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAAAACCAACATCAAAATTAG	0.353																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1174-1176)acA>acT		component of oligomeric golgi complex 3							123.0	103.0	109.0					13																	46066374		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46066374A>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1176A>T	13.37:g.46066374A>T						COG3_ENST00000465942.1_3'UTR	p.T392T	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	11	1288	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	392					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.1176A>T	CCDS9398.1																																																																																				0.353	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			15	158	0	0	0	1	0	15	158				
GRM6	2916	broad.mit.edu	37	5	178413312	178413312	+	Missense_Mutation	SNP	G	G	A	rs61733863	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr5:178413312G>A	ENST00000517717.1	-	9	1981	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V	GRM6_ENST00000231188.5_Missense_Mutation_p.A648V|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	648					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.A648V(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCACAGACCGCGGCCCCAGG	0.642													g|||	3	0.000599042	0.0015	0.0	5008	,	,		17344	0.001		0.0	False		,,,				2504	0.0					ENST00000231188.5																			1	Substitution - Missense(1)	p.A648V(1)	large_intestine(1)	NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1942-1944)gCg>gTg		glutamate receptor, metabotropic 6		C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	38.0	38.0	38.0		1943	2.3	0.0	5	dbSNP_129	38	3,8595	3.0+/-9.4	0,3,4296	yes	missense	GRM6	NM_000843.3	64	0,7,6495	AA,AG,GG		0.0349,0.0908,0.0538	benign	648/878	178413312	7,12997	2203	4299	6502	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413312G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1943C>T	5.37:g.178413312G>A	ENSP00000430767:p.Ala648Val					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.A648V	p.A648V	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2121	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	648						Missense_Mutation	SNP	ENST00000517717.1	37	c.1943C>T	CCDS4442.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	0.005	-2.201130	0.00296	9.08E-4	3.49E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.88277	-2.36;-2.36	5.02	2.26	0.28386	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.78541	0.4299	N	0.13299	0.325	0.09310	N	1	P;B	0.42123	0.771;0.026	B;B	0.42555	0.391;0.025	T	0.65356	-0.6188	9	0.10377	T	0.69	.	9.5679	0.39409	0.1488:0.1203:0.7309:0.0	.	804;648	E7EX65;O15303	.;GRM6_HUMAN	V	804;648;648	ENSP00000231188:A648V;ENSP00000430767:A648V	ENSP00000231188:A648V	A	-	2	0	GRM6	178345918	0.083000	0.21467	0.000000	0.03702	0.004000	0.04260	1.437000	0.34991	0.016000	0.14998	-2.900000	0.00093	GCG		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	142	0	0	0	1	0	7	142				
SVILP1	645954	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:30986357T>C	ENST00000435645.1	+	0	347									supervillin pseudogene 1																		CGGCGCTCAATAGTGGGGACT	0.552																																						ENST00000435645.1																			0																																																			0							g.chr10:30986357T>C			10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30986357T>C														0	347	+									RNA	SNP	ENST00000435645.1	37																																																																																						0.552	SVILP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331601.1			3	72	0	0	0	1	0	3	72				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		7	262	0	0	0	1	0	7	262				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		13	85	0	0	0	1	0	13	85				
CPS1	1373	broad.mit.edu	37	2	211532923	211532923	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:211532923G>T	ENST00000233072.5	+	34	4212	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V	CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1339					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCTTGCTTTGGTGAAGGTATT	0.368																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(4015-4017)gGt>gTt		carbamoyl-phosphate synthase 1, mitochondrial							71.0	67.0	68.0					2																	211532923		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211532923G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4016G>T	2.37:g.211532923G>T	ENSP00000233072:p.Gly1339Val					CPS1_ENST00000451903.2_Missense_Mutation_p.G888V|CPS1_ENST00000430249.2_Missense_Mutation_p.G1345V	p.G1339V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	34	4212	+			1339					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4016G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605102	0.87157	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.72835	-0.69;-0.69;-0.69	6.06	6.06	0.98353	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92954	0.6383	10	0.87932	D	0	-10.3162	20.6397	0.99537	0.0:0.0:1.0:0.0	.	1349;1339	Q59HF8;P31327	.;CPSM_HUMAN	V	1345;1347;1339;888	ENSP00000402608:G1345V;ENSP00000233072:G1339V;ENSP00000406136:G888V	ENSP00000233072:G1339V	G	+	2	0	CPS1	211241168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.448000	0.97600	2.880000	0.98712	0.650000	0.86243	GGT		0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			26	366	1	0	2.44723e-14	1	2.63369e-14	26	366				
TNFRSF10C	8794	broad.mit.edu	37	8	22960677	22960677	+	Missense_Mutation	SNP	G	G	A	rs147367612	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:22960677G>A	ENST00000356864.3	+	1	575	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	TNFRSF10C_ENST00000520607.1_Intron|TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	15					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGTCGTCATCGTCGCGGTCCT	0.701																																						ENST00000356864.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(43-45)Gtc>Atc		tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain							66.0	46.0	53.0					8																	22960677		2203	4298	6501	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22960677G>A	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.43G>A	8.37:g.22960677G>A	ENSP00000349324:p.Val15Ile					TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.V55I|TNFRSF10C_ENST00000520607.1_Intron	p.V15I	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	1	575	+		Prostate(55;0.0421)|Breast(100;0.067)	15					O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.43G>A	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651694	0.14516	.	.	ENSG00000173535	ENST00000397703;ENST00000356864;ENST00000544885	T	0.63417	-0.04	1.76	-1.76	0.08006	.	4.787570	0.01028	U	0.004083	T	0.49881	0.1583	L	0.58101	1.795	0.21355	N	0.999717	P	0.37352	0.591	B	0.12156	0.007	T	0.41288	-0.9517	10	0.37606	T	0.19	.	5.6717	0.17725	0.0:0.0:0.6118:0.3882	.	15	O14798	TR10C_HUMAN	I	55;15;15	ENSP00000349324:V15I	ENSP00000349324:V15I	V	+	1	0	TNFRSF10C	23016622	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.237000	0.08990	-0.068000	0.12953	0.205000	0.17691	GTC		0.701	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			6	60	0	0	0	1	0	6	60				
APEH	327	broad.mit.edu	37	3	49723522	49723522	+	IGR	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:49723522G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.R374C	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R360C(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697																																						ENST00000449682.2																			2	Substitution - Missense(2)	p.R360C(2)	lung(1)|central_nervous_system(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1120-1122)Cgt>Tgt		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	14.0	13.0					3																	49723522		2191	4284	6475	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723522G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723522G>A						MST1_ENST00000383728.3_3'UTR	p.R374C	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1481	-			360			Kringle 4.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1120C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037157	0.93630	.	.	ENSG00000173531	ENST00000449682	T	0.68181	-0.31	5.4	4.52	0.55395	.	0.000000	0.42682	D	0.000669	D	0.83078	0.5176	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83214	-0.0072	10	0.32370	T	0.25	.	13.2202	0.59883	0.0778:0.0:0.9222:0.0	.	374	G3XAK1	.	C	374	ENSP00000414287:R374C	ENSP00000414287:R374C	R	-	1	0	MST1	49698526	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.008000	0.88588	2.526000	0.85167	0.655000	0.94253	CGT		0.697	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	115	0	0	0	1	0	7	115				
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G	rs556090358	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:1266085C>G	ENST00000529681.1	+	31	8033	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2662A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|P -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617													C|||	60	0.0119808	0.0174	0.0072	5008	,	,		19640	0.0		0.0209	False		,,,				2504	0.0112					ENST00000447027.1																			1	Substitution - Missense(1)	p.P2638A(1)	skin(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7984-7986)Ccc>Gcc		mucin 5B, oligomeric mucus/gel-forming							98.0	124.0	116.0					11																	1266085		2044	4160	6204	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266085C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7975C>G	11.37:g.1266085C>G	ENSP00000436812:p.Pro2659Ala					MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA	p.P2662A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8042	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2659	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7984C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355741	0.01245	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21361	2.01;2.2	2.53	-5.06	0.02946	.	.	.	.	.	T	0.12987	0.0315	L	0.41710	1.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	9	0.87932	D	0	.	1.5835	0.02639	0.3418:0.1308:0.3464:0.181	.	3297;2662	A7Y9J9;E9PBJ0	.;.	A	2659;2662;2631;2674	ENSP00000436812:P2659A;ENSP00000415793:P2662A	ENSP00000343037:P2631A	P	+	1	0	MUC5B	1222661	0.591000	0.26824	0.000000	0.03702	0.025000	0.11179	0.025000	0.13577	-4.187000	0.00066	-0.982000	0.02568	CCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	121	0	0	0	1	0	3	121				
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100559710T>G																													12.37:g.100559710T>G								NR_036632.1						0	599	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.602	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			9	70	0	0	0	1	0	9	70				
NPY2R	4887	broad.mit.edu	37	4	156135813	156135813	+	Missense_Mutation	SNP	G	G	A	rs201834148		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:156135813G>A	ENST00000329476.3	+	2	1211	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	241					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TCCTACACTCGCATTTGGAGT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22946	0.0		0.0	False		,,,				2504	0.0					ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(721-723)cGc>cAc		neuropeptide Y receptor Y2							97.0	99.0	98.0					4																	156135813		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135813G>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.722G>A	4.37:g.156135813G>A	ENSP00000332591:p.Arg241His					NPY2R_ENST00000506608.1_Missense_Mutation_p.R241H	p.R241H	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1211	+	all_hematologic(180;0.24)	Renal(120;0.0854)	241					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.722G>A	CCDS3791.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.32	2.201932	0.38905	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.39056	1.1;1.1	5.74	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.168700	0.52532	D	0.000066	T	0.61677	0.2366	M	0.83953	2.67	0.38645	D	0.951695	D	0.64830	0.994	P	0.61328	0.887	T	0.68526	-0.5385	10	0.44086	T	0.13	.	12.5301	0.56109	0.1588:0.0:0.8412:0.0	.	241	P49146	NPY2R_HUMAN	H	241	ENSP00000332591:R241H;ENSP00000426366:R241H	ENSP00000332591:R241H	R	+	2	0	NPY2R	156355263	0.989000	0.36119	0.051000	0.19133	0.629000	0.37895	4.847000	0.62867	1.434000	0.47414	0.643000	0.83706	CGC		0.448	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		8	344	0	0	0	1	0	8	344				
ATXN7L2	127002	broad.mit.edu	37	1	110031576	110031576	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110031576G>A	ENST00000369870.3	+	7	906	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	297	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCCAAGGAGAAGAGCCCAG	0.652																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(889-891)gaG>gaA		ataxin 7-like 2							41.0	41.0	41.0					1																	110031576		2203	4300	6503	SO:0001819	synonymous_variant	127002							g.chr1:110031576G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.891G>A	1.37:g.110031576G>A							p.E297E	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	7	906	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	297			SCA7.			Silent	SNP	ENST00000369870.3	37	c.891G>A	CCDS30794.1																																																																																				0.652	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		12	268	0	0	0	1	0	12	268				
LRRN2	10446	broad.mit.edu	37	1	204589069	204589069	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204589069C>T	ENST00000367175.1	-	1	2264	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	18					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACAGCGGCAGTGGCACCA	0.647																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(52-54)Gcc>Acc		leucine rich repeat neuronal 2							18.0	21.0	20.0					1																	204589069		2199	4297	6496	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204589069C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.52G>A	1.37:g.204589069C>T	ENSP00000356143:p.Ala18Thr					LRRN2_ENST00000367176.3_Missense_Mutation_p.A18T|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367177.3_Missense_Mutation_p.A18T	p.A18T			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	2264	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		18					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.52G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735810	0.15574	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.28454	1.61;1.61;1.61	5.79	4.87	0.63330	.	0.170083	0.27846	N	0.017610	T	0.19886	0.0478	L	0.31420	0.93	0.29809	N	0.831823	B	0.12630	0.006	B	0.14578	0.011	T	0.19418	-1.0306	10	0.02654	T	1	.	13.2602	0.60101	0.0:0.9249:0.0:0.0751	.	18	O75325	LRRN2_HUMAN	T	18	ENSP00000356144:A18T;ENSP00000356145:A18T;ENSP00000356143:A18T	ENSP00000356143:A18T	A	-	1	0	LRRN2	202855692	0.360000	0.24964	0.273000	0.24645	0.971000	0.66376	1.376000	0.34306	1.431000	0.47355	0.650000	0.86243	GCC		0.647	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		9	98	0	0	0	1	0	9	98				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:7578413C>G	ENST00000269305.4	-	5	706	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Ctg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>C	17.37:g.7578413C>G	ENSP00000269305:p.Val173Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L	p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.517G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680628	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	239	0	0	0	1	0	36	239				
APOBR	55911	broad.mit.edu	37	16	28509280	28509280	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:28509280G>A	ENST00000431282.1	+	3	2901	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G964D|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.G973D			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	964					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GAGGCCATGGGCAGTGCCAGA	0.672																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(2917-2919)gGc>gAc		apolipoprotein B receptor							41.0	49.0	46.0					16																	28509280		2197	4298	6495	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509280G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2891G>A	16.37:g.28509280G>A	ENSP00000416094:p.Gly964Asp					APOBR_ENST00000328423.5_Missense_Mutation_p.G964D|APOBR_ENST00000431282.1_Missense_Mutation_p.G964D	p.G973D	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	2951	+			964					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2918G>A		.	.	.	.	.	.	.	.	.	.	G	12.47	1.948093	0.34377	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61627	0.09;0.09	4.17	-1.73	0.08081	.	.	.	.	.	T	0.44685	0.1305	N	0.19112	0.55	0.09310	N	1	D;D	0.53312	0.959;0.959	P;P	0.50934	0.654;0.58	T	0.36089	-0.9762	9	0.54805	T	0.06	-0.1378	4.5553	0.12133	0.2728:0.329:0.3982:0.0	.	964;964	Q0VD83;Q9NS13	APOBR_HUMAN;.	D	964	ENSP00000327669:G964D;ENSP00000416094:G964D	ENSP00000327669:G964D	G	+	2	0	APOBR	28416781	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.114000	0.10757	-0.557000	0.06126	0.457000	0.33378	GGC		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		29	181	0	0	0	1	0	29	181				
CDYL2	124359	broad.mit.edu	37	16	80667060	80667060	+	Silent	SNP	G	G	A	rs370004377		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:80667060G>A	ENST00000570137.2	-	3	845	c.690C>T	c.(688-690)taC>taT	p.Y230Y	CDYL2_ENST00000562812.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y|CDYL2_ENST00000563890.1_Silent_p.Y231Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	230						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGTCAAAGACGTAGTCCTTCT	0.502																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(688-690)taC>taT		chromodomain protein, Y-like 2		G		1,4405	2.1+/-5.4	0,1,2202	179.0	150.0	160.0		690	-4.7	0.9	16		160	0,8600		0,0,4300	no	coding-synonymous	CDYL2	NM_152342.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		230/507	80667060	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80667060G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.690C>T	16.37:g.80667060G>A						CDYL2_ENST00000563890.1_Silent_p.Y231Y|CDYL2_ENST00000566173.1_Silent_p.Y231Y|CDYL2_ENST00000562812.1_Silent_p.Y231Y	p.Y230Y	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			3	845	-			230					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.690C>T	CCDS32493.1																																																																																				0.502	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		22	650	0	0	0	1	0	22	650				
NRROS	375387	broad.mit.edu	37	3	196387199	196387199	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:196387199C>T	ENST00000328557.4	+	3	888	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	229					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CACGCGGCTGCGGGTCCTCAA	0.647																																						ENST00000328557.4																			0											c.(685-687)Cgg>Tgg		negative regulator of reactive oxygen species							59.0	56.0	57.0					3																	196387199		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196387199C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.685C>T	3.37:g.196387199C>T	ENSP00000328625:p.Arg229Trp						p.R229W	NM_198565.1	NP_940967.1					3	888	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.685C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984479	0.35036	.	.	ENSG00000174004	ENST00000328557	T	0.01068	5.38	6.17	6.17	0.99709	.	0.705996	0.14458	N	0.318358	T	0.06234	0.0161	M	0.92507	3.315	0.80722	D	1	D	0.67145	0.996	P	0.47528	0.549	T	0.02226	-1.1192	10	0.66056	D	0.02	.	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	229	Q86YC3	LRC33_HUMAN	W	229	ENSP00000328625:R229W	ENSP00000328625:R229W	R	+	1	2	LRRC33	197871596	0.022000	0.18835	0.009000	0.14445	0.006000	0.05464	2.391000	0.44424	2.941000	0.99782	0.655000	0.94253	CGG		0.647	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		13	305	0	0	0	1	0	13	305				
TTLL9	164395	broad.mit.edu	37	20	30526969	30526969	+	Silent	SNP	C	C	T	rs377006514		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:30526969C>T	ENST00000375938.4	+	14	1396	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375921.2_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	381					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAAGCGAGTCGGGGGCTTTG	0.577																																						ENST00000375938.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1141-1143)gtC>gtT		tubulin tyrosine ligase-like family, member 9							72.0	77.0	75.0					20																	30526969		1934	4123	6057	SO:0001819	synonymous_variant	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30526969C>T	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1143C>T	20.37:g.30526969C>T						TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000535842.1_Silent_p.V381V|TTLL9_ENST00000375934.4_3'UTR	p.V381V			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		14	1396	+			381					A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	c.1143C>T	CCDS42863.1																																																																																				0.577	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		43	395	0	0	0	1	0	43	395				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		6	49	1	0	0.217242	1	0.219182	6	49				
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	35	228	0	0	0	1	0	35	228				
SHPRH	257218	broad.mit.edu	37	6	146207836	146207836	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:146207836C>T	ENST00000367505.2	-	30	5307	c.5043G>A	c.(5041-5043)gaG>gaA	p.E1681E	SHPRH_ENST00000367503.3_Silent_p.E1685E|RP11-545I5.3_ENST00000606388.1_RNA|SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1681					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCATTCAAGCTCTTCAGTTT	0.398																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(5053-5055)gaG>gaA		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							81.0	79.0	80.0					6																	146207836		1866	4113	5979	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146207836C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.5043G>A	6.37:g.146207836C>T						SHPRH_ENST00000367505.2_Silent_p.E1681E|SHPRH_ENST00000275233.7_Silent_p.E1681E|SHPRH_ENST00000438092.2_Intron	p.E1685E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	30	5453	-		Ovarian(120;0.0365)	1681					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.5055G>A	CCDS43513.2																																																																																				0.398	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	215	0	0	0	1	0	6	215				
ZNF618	114991	broad.mit.edu	37	9	116812071	116812071	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:116812071G>T	ENST00000374126.5	+	15	2588	c.2489G>T	c.(2488-2490)tGt>tTt	p.C830F	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.C737F			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCAAGGTCTGTGAGCTCATC	0.652																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2209-2211)tGt>tTt		zinc finger protein 618							59.0	66.0	64.0					9																	116812071		2067	4190	6257	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116812071G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2489G>T	9.37:g.116812071G>T	ENSP00000363241:p.Cys830Phe					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.C830F	p.C737F	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2309	+			830					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2210G>T		.	.	.	.	.	.	.	.	.	.	G	16.38	3.108342	0.56291	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21031	2.03;2.03	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	.	.	.	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	D;D;D	0.85130	0.982;0.994;0.997	T	0.50056	-0.8872	9	0.66056	D	0.02	-20.5356	19.0349	0.92972	0.0:0.0:1.0:0.0	.	797;830;737	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	F	830;737	ENSP00000363241:C830F;ENSP00000288466:C737F	ENSP00000288466:C737F	C	+	2	0	ZNF618	115851892	1.000000	0.71417	0.863000	0.33907	0.576000	0.36127	9.100000	0.94213	2.815000	0.96918	0.561000	0.74099	TGT		0.652	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		57	251	1	0	4.96213e-28	1	5.55169e-28	57	251				
YAP1	10413	broad.mit.edu	37	11	101984938	101984938	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:101984938C>T	ENST00000282441.5	+	2	773	c.385C>T	c.(385-387)Cca>Tca	p.P129S	YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S|YAP1_ENST00000526343.1_Missense_Mutation_p.P129S	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	129					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCATTCCTCTCCAGCTTCTCT	0.507																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(385-387)Cca>Tca		Yes-associated protein 1							62.0	61.0	61.0					11																	101984938		2203	4299	6502	SO:0001583	missense	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:101984938C>T		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.385C>T	11.37:g.101984938C>T	ENSP00000282441:p.Pro129Ser					YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000526343.1_Missense_Mutation_p.P129S|YAP1_ENST00000345877.2_Missense_Mutation_p.P129S|YAP1_ENST00000531439.1_Missense_Mutation_p.P129S|YAP1_ENST00000537274.1_Missense_Mutation_p.P129S	p.P129S	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	2	773	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	129					B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.385C>T	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958749	0.74016	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439	T;T	0.53857	0.6;0.6	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.75085	2.285	0.80722	D	1	B;P;B;B	0.48503	0.437;0.911;0.108;0.173	B;P;B;B	0.50860	0.095;0.652;0.042;0.09	T	0.69650	-0.5088	10	0.59425	D	0.04	.	19.4808	0.95008	0.0:1.0:0.0:0.0	.	129;129;129;129	E9PRV2;P46937-2;P46937;P46937-3	.;.;YAP1_HUMAN;.	S	129;129;129;129;44;129	ENSP00000434134:P129S;ENSP00000331023:P129S	ENSP00000282441:P129S	P	+	1	0	YAP1	101490148	1.000000	0.71417	0.931000	0.37212	0.956000	0.61745	7.792000	0.85828	2.611000	0.88343	0.563000	0.77884	CCA		0.507	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		10	295	0	0	0	1	0	10	295				
CLCNKA	1187	broad.mit.edu	37	1	16356526	16356526	+	Missense_Mutation	SNP	G	G	A	rs71587743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16356526G>A	ENST00000331433.4	+	14	1383	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	455					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATTGTGACTGGAGGGGTTACC	0.662																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1363-1365)gGa>gAa		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						55.0	50.0	52.0					1																	16356526		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16356526G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1364G>A	1.37:g.16356526G>A	ENSP00000332771:p.Gly455Glu					CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G412E|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G455E|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G455E	p.G455E			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1492	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	455					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1364G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045677	0.19748	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.85702	-1.95;-1.95;-2.02;-1.97	3.3	2.37	0.29283	Chloride channel, core (2);	0.313692	0.31177	N	0.008103	T	0.76905	0.4053	L	0.28694	0.88	0.48975	D	0.999735	P;B;B;B	0.38223	0.623;0.016;0.156;0.156	P;B;B;B	0.44647	0.456;0.05;0.158;0.158	T	0.74466	-0.3656	10	0.52906	T	0.07	.	3.1862	0.06602	0.238:0.2417:0.5202:0.0	.	191;412;455;455	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	E	455;455;412;455	ENSP00000364844:G455E;ENSP00000410353:G455E;ENSP00000414445:G412E;ENSP00000332771:G455E	ENSP00000332771:G455E	G	+	2	0	CLCNKA	16229113	1.000000	0.71417	0.995000	0.50966	0.108000	0.19459	4.011000	0.57124	1.821000	0.53095	0.313000	0.20887	GGA		0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			15	298	0	0	0	1	0	15	298				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	169	0	0	0	1	0	5	169				
SYNE1	23345	broad.mit.edu	37	6	152469332	152469332	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:152469332G>A	ENST00000367255.5	-	137	25425	c.24824C>T	c.(24823-24825)cCg>cTg	p.P8275L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8275					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACACTAGCCGGGGTGTCTCG	0.617										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24823-24825)cCg>cTg		spectrin repeat containing, nuclear envelope 1							61.0	60.0	60.0					6																	152469332		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469332G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24824C>T	6.37:g.152469332G>A	ENSP00000356224:p.Pro8275Leu	HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Missense_Mutation_p.P430L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2799L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7887L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8275L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8204L|SYNE1_ENST00000539504.1_Missense_Mutation_p.P430L|SYNE1_ENST00000347037.5_5'UTR	p.P8275L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25425	-		Ovarian(120;0.0955)	8275					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24824C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903203	0.92035	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	D;T;T;D;D;D;D;T;T;T	0.90900	-2.65;3.26;-1.25;-2.74;-2.75;-2.6;-2.05;-0.35;-1.28;2.16	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000044	D	0.95900	0.8665	M	0.89095	3.005	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	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96316	0.9232	10	0.72032	D	0.01	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	8275;8275;8204;8204;477	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	L	8275;430;921;8204;8275;8204;7887;2799;437;432;1197;430	ENSP00000356224:P8275L;ENSP00000441052:P430L;ENSP00000356226:P921L;ENSP00000396024:P8204L;ENSP00000265368:P8275L;ENSP00000390975:P8204L;ENSP00000341887:P7887L;ENSP00000349276:P2799L;ENSP00000356220:P1197L;ENSP00000346701:P430L	ENSP00000265368:P8275L	P	-	2	0	SYNE1	152511025	1.000000	0.71417	0.954000	0.39281	0.723000	0.41478	7.621000	0.83083	2.471000	0.83476	0.563000	0.77884	CCG		0.617	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	253	0	0	0	1	0	6	253				
MAGT1	84061	broad.mit.edu	37	X	77112307	77112307	+	Missense_Mutation	SNP	T	T	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:77112307T>A	ENST00000358075.6	-	5	777	c.691A>T	c.(691-693)Att>Ttt	p.I231F		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	199					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTCCACCAATAACAGCCAAA	0.363																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(691-693)Att>Ttt		magnesium transporter 1							74.0	72.0	73.0					X																	77112307		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112307T>A		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.691A>T	X.37:g.77112307T>A	ENSP00000354649:p.Ile231Phe						p.I231F	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			5	777	-			199					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	c.691A>T	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176840	0.78564	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.79141	-1.24	4.42	4.42	0.53409	.	0.056630	0.64402	U	0.000002	D	0.82995	0.5158	M	0.69823	2.125	0.80722	D	1	P	0.52463	0.953	P	0.54431	0.752	D	0.84953	0.0872	10	0.72032	D	0.01	-9.4975	12.6456	0.56733	0.0:0.0:0.0:1.0	.	199	Q9H0U3	MAGT1_HUMAN	F	231;82	ENSP00000354649:I231F	ENSP00000354649:I231F	I	-	1	0	MAGT1	76998963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.537000	0.45702	1.428000	0.47296	0.486000	0.48141	ATT		0.363	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		34	482	0	0	0	1	0	34	482				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		3	88	0	0	0	1	0	3	88				
MEX3B	84206	broad.mit.edu	37	15	82335639	82335639	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:82335639G>A	ENST00000329713.4	-	2	2007	c.1572C>T	c.(1570-1572)agC>agT	p.S524S	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	524					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAATCACTTCGCTCTCGAAGC	0.637																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(1570-1572)agC>agT		mex-3 RNA binding family member B							74.0	71.0	72.0					15																	82335639		2203	4300	6503	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82335639G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1572C>T	15.37:g.82335639G>A						MEX3B_ENST00000558133.1_3'UTR	p.S524S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	2007	-			524					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.1572C>T	CCDS10319.1																																																																																				0.637	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		21	394	0	0	0	1	0	21	394				
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(13-15)cGc>cAc		CCR4-NOT transcription complex, subunit 3							196.0	161.0	173.0					19																	54646728		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646728G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.14G>A	19.37:g.54646728G>A	ENSP00000383954:p.Arg5His					CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR	p.R5H			O75175	CNOT3_HUMAN			1	1617	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		5					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.14G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC		0.527	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		8	536	0	0	0	1	0	8	536				
SPTBN2	6712	broad.mit.edu	37	11	66454976	66454976	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:66454976G>A	ENST00000533211.1	-	35	6975	c.6644C>T	c.(6643-6645)cCa>cTa	p.P2215L	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2215					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGGCAGATGGCTCTGGGCC	0.667																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6643-6645)cCa>cTa		spectrin, beta, non-erythrocytic 2							56.0	62.0	60.0					11																	66454976		2198	4292	6490	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454976G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6644C>T	11.37:g.66454976G>A	ENSP00000432568:p.Pro2215Leu					SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2215L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2215L	p.P2215L			O15020	SPTN2_HUMAN			35	6975	-			2215					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6644C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153763	0.06585	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.29397	1.57;1.57;1.57	4.92	1.35	0.21983	.	0.493128	0.20618	N	0.088823	T	0.10937	0.0267	N	0.02539	-0.55	0.25958	N	0.982667	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	10	0.25106	T	0.35	.	8.3493	0.32292	0.5453:0.0:0.4547:0.0	.	2215	O15020	SPTN2_HUMAN	L	2215;2215;2215;759	ENSP00000432568:P2215L;ENSP00000311489:P2215L;ENSP00000433593:P2215L	ENSP00000311489:P2215L	P	-	2	0	SPTBN2	66211552	0.987000	0.35691	0.960000	0.40013	0.210000	0.24377	0.995000	0.29706	0.050000	0.15949	-0.137000	0.14449	CCA		0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		56	506	0	0	0	1	0	56	506				
TTN	7273	broad.mit.edu	37	2	179576918	179576918	+	Silent	SNP	C	C	T	rs541105227		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:179576918C>T	ENST00000591111.1	-	94	26912	c.26688G>A	c.(26686-26688)ccG>ccA	p.P8896P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P9213P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.P7969P			Q8WZ42	TITIN_HUMAN	titin	13042	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCTTAACCGGCTCCAACT	0.443													c|||	1	0.000199681	0.0	0.0	5008	,	,		20062	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27637-27639)ccG>ccA		titin							66.0	65.0	65.0					2																	179576918		1906	4124	6030	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576918C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26688G>A	2.37:g.179576918C>T						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P8896P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P7969P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	p.P9213P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	27863	-			8896			Ig-like 75.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.27639G>A																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	328	0	0	0	1	0	15	328				
DCHS1	8642	broad.mit.edu	37	11	6652947	6652947	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:6652947C>T	ENST00000299441.3	-	7	3986	c.3575G>A	c.(3574-3576)aGc>aAc	p.S1192N	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1192	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGTGGTGCTGCGGGGTGG	0.617																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3574-3576)aGc>aAc		dachsous cadherin-related 1							62.0	52.0	56.0					11																	6652947		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652947C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3575G>A	11.37:g.6652947C>T	ENSP00000299441:p.Ser1192Asn					RP11-732A19.6_ENST00000526633.1_RNA	p.S1192N	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	3986	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1192			Cadherin 11.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3575G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016238	0.54468	.	.	ENSG00000166341	ENST00000299441	T	0.01838	4.61	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000055	T	0.07279	0.0184	L	0.41906	1.305	0.48696	D	0.999692	D	0.61697	0.99	D	0.64042	0.921	T	0.53746	-0.8395	10	0.23891	T	0.37	.	17.9063	0.88919	0.0:1.0:0.0:0.0	.	1192	Q96JQ0	PCD16_HUMAN	N	1192	ENSP00000299441:S1192N	ENSP00000299441:S1192N	S	-	2	0	DCHS1	6609523	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	5.391000	0.66266	2.711000	0.92665	0.655000	0.94253	AGC		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	93	0	0	0	1	0	5	93				
PTPRO	5800	broad.mit.edu	37	12	15673198	15673198	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:15673198G>C	ENST00000281171.4	+	10	2173	c.1843G>C	c.(1843-1845)Gat>Cat	p.D615H	PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	615	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GACGTGGGGAGATCCAGAATT	0.478																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1843-1845)Gat>Cat		protein tyrosine phosphatase, receptor type, O							138.0	124.0	129.0					12																	15673198		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15673198G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1843G>C	12.37:g.15673198G>C	ENSP00000281171:p.Asp615His					PTPRO_ENST00000348962.2_Missense_Mutation_p.D615H	p.D615H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			10	2173	+		Hepatocellular(102;0.244)	615					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1843G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740810	0.89573	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.54279	3.78;0.58	5.2	5.2	0.72013	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.249218	0.27922	N	0.017316	T	0.52725	0.1752	N	0.19112	0.55	0.80722	D	1	P;P	0.52842	0.956;0.927	P;P	0.54026	0.74;0.554	T	0.58053	-0.7704	10	0.72032	D	0.01	.	17.0929	0.86627	0.0:0.0:1.0:0.0	.	615;615	Q16827-2;Q16827	.;PTPRO_HUMAN	H	615	ENSP00000281171:D615H;ENSP00000343434:D615H	ENSP00000281171:D615H	D	+	1	0	PTPRO	15564465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.851000	0.92205	2.689000	0.91719	0.655000	0.94253	GAT		0.478	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			107	452	0	0	0	1	0	107	452				
COL2A1	1280	broad.mit.edu	37	12	48372412	48372412	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:48372412C>T	ENST00000380518.3	-	42	3027	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	955	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTCCCTTCTCGCCAGGGGGT	0.637																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2863-2865)Gag>Aag		collagen, type II, alpha 1	Collagenase(DB00048)						30.0	32.0	31.0					12																	48372412		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372412C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2863G>A	12.37:g.48372412C>T	ENSP00000369889:p.Glu955Lys					COL2A1_ENST00000337299.6_Missense_Mutation_p.E886K|COL2A1_ENST00000493991.1_5'UTR	p.E955K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			42	3027	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	955			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2863G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987880	0.74589	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93247	-3.19;-3.19	5.33	4.43	0.53597	.	0.061183	0.64402	D	0.000007	D	0.90273	0.6958	L	0.48218	1.51	0.58432	D	0.999999	P;P	0.41524	0.747;0.753	B;B	0.37267	0.207;0.245	D	0.90190	0.4249	10	0.66056	D	0.02	.	15.1154	0.72397	0.1424:0.8576:0.0:0.0	.	886;955	P02458-1;P02458	.;CO2A1_HUMAN	K	955;886;886	ENSP00000369889:E955K;ENSP00000338213:E886K	ENSP00000338213:E886K	E	-	1	0	COL2A1	46658679	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.797000	0.62503	1.223000	0.43536	0.561000	0.74099	GAG		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		24	241	0	0	0	1	0	24	241				
AVIL	10677	broad.mit.edu	37	12	58207947	58207947	+	Silent	SNP	G	G	A	rs141365699		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:58207947G>A	ENST00000257861.3	-	2	559	c.129C>T	c.(127-129)taC>taT	p.Y43Y	AVIL_ENST00000537081.1_Silent_p.Y36Y|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	43	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGATGACGTAGCAGTCCC	0.607																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(106-108)taC>taT		advillin		G		0,4406		0,0,2203	79.0	66.0	70.0		129	3.1	0.8	12	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	AVIL	NM_006576.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		43/820	58207947	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58207947G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.129C>T	12.37:g.58207947G>A						AVIL_ENST00000257861.3_Silent_p.Y43Y	p.Y36Y			O75366	AVIL_HUMAN			2	107	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		43			Core (By similarity).		B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	c.108C>T	CCDS8959.1																																																																																				0.607	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		8	111	0	0	0	1	0	8	111				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	73	1	0	1	1	1	3	73				
DYRK1B	9149	broad.mit.edu	37	19	40316442	40316442	+	Silent	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:40316442T>G	ENST00000593685.1	-	11	2271	c.1803A>C	c.(1801-1803)ccA>ccC	p.P601P	DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	601					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCGGGAGGGGTGGACGACCTC	0.716																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1801-1803)ccA>ccC		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							7.0	9.0	8.0					19																	40316442		2165	4233	6398	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316442T>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1803A>C	19.37:g.40316442T>G						DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000323039.5_Silent_p.P601P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000597639.1_Silent_p.P573P	p.P601P			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2271	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		601					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1803A>C	CCDS12543.1																																																																																				0.716	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		8	55	0	0	0	1	0	8	55				
PSG6	5675	broad.mit.edu	37	19	43411981	43411981	+	Silent	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:43411981G>T	ENST00000292125.2	-	4	776	c.732C>A	c.(730-732)acC>acA	p.T244T	PSG6_ENST00000187910.2_Silent_p.T244T|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	244	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGTTGTTGATGGTGATGTAAG	0.478																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(730-732)acC>acA		pregnancy specific beta-1-glycoprotein 6							262.0	251.0	255.0					19																	43411981		2201	4298	6499	SO:0001819	synonymous_variant	5675							g.chr19:43411981G>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.732C>A	19.37:g.43411981G>T						PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Silent_p.T244T	p.T244T	NM_001031850.3	NP_001027020.1					4	797	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.732C>A	CCDS12613.1																																																																																				0.478	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		89	905	1	0	4.01556e-35	1	4.53759e-35	89	905				
BCOR	54880	broad.mit.edu	37	X	39933048	39933048	+	Silent	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:39933048G>A	ENST00000378444.4	-	4	1779	c.1551C>T	c.(1549-1551)aaC>aaT	p.N517N	BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000342274.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	517					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N517N(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTCTCTTCGTTAGGACTTG	0.527			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		1	Substitution - coding silent(1)	p.N517N(1)	endometrium(1)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1549-1551)aaC>aaT		BCL6 corepressor							106.0	63.0	77.0					X																	39933048		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933048G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1551C>T	X.37:g.39933048G>A						BCOR_ENST00000397354.3_Silent_p.N517N|BCOR_ENST00000378444.4_Silent_p.N517N|BCOR_ENST00000378455.4_Silent_p.N517N	p.N517N	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1913	-			517					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1551C>T	CCDS48093.1																																																																																				0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		11	330	0	0	0	1	0	11	330				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	257	1	0	0.014758	1	0.0151605	4	257				
SVIP	258010	broad.mit.edu	37	11	22849412	22849412	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:22849412T>G	ENST00000354193.4	-	2	179	c.63A>C	c.(61-63)aaA>aaC	p.K21N	SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000525963.1_RNA|RP11-17A1.3_ENST00000528701.1_RNA|RP11-17A1.3_ENST00000499625.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	21					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						GCTTTGCTCTTTTCTCTTCCT	0.274																																						ENST00000354193.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						c.(61-63)aaA>aaC		small VCP/p97-interacting protein							118.0	107.0	111.0					11																	22849412		1803	4068	5871	SO:0001583	missense	258010					Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane		g.chr11:22849412T>G	AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.63A>C	11.37:g.22849412T>G	ENSP00000346130:p.Lys21Asn					SVIP_ENST00000533774.1_5'UTR	p.K21N	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN			2	179	-			21						Missense_Mutation	SNP	ENST00000354193.4	37	c.63A>C	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444716	0.43429	.	.	ENSG00000198168	ENST00000354193	.	.	.	5.42	4.3	0.51218	.	0.000000	0.50627	D	0.000102	T	0.58991	0.2161	.	.	.	0.30377	N	0.782339	D	0.61697	0.99	P	0.59487	0.858	T	0.62618	-0.6816	8	0.72032	D	0.01	-16.2028	8.3153	0.32097	0.0:0.0903:0.0:0.9097	.	21	Q8NHG7	SVIP_HUMAN	N	21	.	ENSP00000346130:K21N	K	-	3	2	SVIP	22805988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.313000	0.43735	1.002000	0.39104	-0.256000	0.11100	AAA		0.274	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893		12	221	0	0	0	1	0	12	221				
GLI3	2737	broad.mit.edu	37	7	42005706	42005706	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:42005706G>A	ENST00000395925.3	-	15	3049	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	989					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGTGGCGCCGCCCGTAGCCG	0.766									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2965-2967)Cgg>Tgg		GLI family zinc finger 3							4.0	5.0	4.0					7																	42005706		1824	3700	5524	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005706G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2965C>T	7.37:g.42005706G>A	ENSP00000379258:p.Arg989Trp					GLI3_ENST00000479210.1_5'UTR	p.R989W	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3049	-			989					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2965C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151686	0.57151	.	.	ENSG00000106571	ENST00000395925	T	0.15372	2.43	4.98	3.13	0.36017	.	0.048653	0.85682	D	0.000000	T	0.23806	0.0576	M	0.68317	2.08	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.01464	-1.1348	10	0.66056	D	0.02	.	8.6697	0.34143	0.0:0.1206:0.4157:0.4637	.	989	P10071	GLI3_HUMAN	W	989	ENSP00000379258:R989W	ENSP00000379258:R989W	R	-	1	2	GLI3	41972231	1.000000	0.71417	0.942000	0.38095	0.702000	0.40608	2.959000	0.49153	0.457000	0.26962	0.563000	0.77884	CGG		0.766	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		12	60	0	0	0	1	0	12	60				
MN1	4330	broad.mit.edu	37	22	28194933	28194933	+	Silent	SNP	T	T	C	rs572936881|rs373314940|rs71194738	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr22:28194933T>C	ENST00000302326.4	-	1	2553	c.1599A>G	c.(1597-1599)caA>caG	p.Q533Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgct	0.652			T	ETV6	"""AML, meningioma"""								T|||	98	0.0195687	0.0613	0.0086	5008	,	,		12327	0.002		0.005	False		,,,				2504	0.0041					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1599)caA>caG		meningioma (disrupted in balanced translocation) 1		C		9,3561		0,9,1776	4.0	5.0	5.0		1599	-0.4	1.0	22		5	5,7341		0,5,3668	no	coding-synonymous	MN1	NM_002430.2		0,14,5444	CC,CT,TT		0.0681,0.2521,0.1283		533/1321	28194933	14,10902	1785	3673	5458	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194933T>C	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1599A>G	22.37:g.28194933T>C							p.Q533Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2553	-			533			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1599A>G	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	43	0	0	0	1	0	3	43				
SLC6A5	9152	broad.mit.edu	37	11	20673951	20673951	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:20673951C>T	ENST00000525748.1	+	15	2460	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	729					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCATCTGGATCCCAATTATGT	0.488																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2185-2187)atC>atT		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						213.0	206.0	209.0					11																	20673951		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20673951C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2187C>T	11.37:g.20673951C>T						SLC6A5_ENST00000528440.1_3'UTR	p.I729I	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			15	2460	+			729					O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.2187C>T	CCDS7854.1																																																																																				0.488	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		25	770	0	0	0	1	0	25	770				
PIK3C2B	5287	broad.mit.edu	37	1	204416603	204416603	+	Missense_Mutation	SNP	C	C	T	rs565159968	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:204416603C>T	ENST00000367187.3	-	16	3006	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTTAAGCTTGCGCTGGTCTTC	0.557													C|||	6	0.00119808	0.0	0.0	5008	,	,		15998	0.0		0.0	False		,,,				2504	0.0061					ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2449-2451)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							79.0	77.0	78.0					1																	204416603		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204416603C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2450G>A	1.37:g.204416603C>T	ENSP00000356155:p.Arg817His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817H	p.R817H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		16	3006	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		817					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.2450G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072628	0.36566	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.63744	-0.06;-0.06	5.08	3.13	0.36017	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.380247	0.25827	N	0.028051	T	0.52403	0.1732	L	0.47716	1.5	0.23210	N	0.998116	B;B	0.11235	0.004;0.0	B;B	0.12837	0.008;0.001	T	0.49322	-0.8952	10	0.48119	T	0.1	.	9.8335	0.40956	0.0:0.7533:0.0:0.2467	.	817;817	F5GWN5;O00750	.;P3C2B_HUMAN	H	817	ENSP00000356155:R817H;ENSP00000400561:R817H	ENSP00000356155:R817H	R	-	2	0	PIK3C2B	202683226	0.992000	0.36948	0.749000	0.31150	0.778000	0.44026	1.609000	0.36858	1.232000	0.43678	0.462000	0.41574	CGC		0.557	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		52	245	0	0	0	1	0	52	245				
FERMT1	55612	broad.mit.edu	37	20	6093196	6093196	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr20:6093196T>G	ENST00000217289.4	-	4	1248	c.460A>C	c.(460-462)Aaa>Caa	p.K154Q	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	154	FERM.|Poly-Lys.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTATTATTTTTGTCTTTTTTC	0.318																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(460-462)Aaa>Caa		fermitin family member 1							103.0	107.0	106.0					20																	6093196		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6093196T>G	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.460A>C	20.37:g.6093196T>G	ENSP00000217289:p.Lys154Gln					FERMT1_ENST00000536936.1_5'UTR	p.K154Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			4	1248	-			154			FERM.|Poly-Lys.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.460A>C	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456891	0.63401	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.76839	-1.05	5.77	4.66	0.58398	FERM, N-terminal (1);Band 4.1 domain (1);	0.085490	0.85682	D	0.000000	T	0.80560	0.4646	L	0.51422	1.61	0.80722	D	1	D;D	0.59357	0.979;0.985	P;P	0.59889	0.865;0.864	T	0.75972	-0.3129	10	0.16420	T	0.52	-1.0761	12.477	0.55821	0.1256:0.0:0.0:0.8744	.	154;154	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	Q	154	ENSP00000217289:K154Q	ENSP00000217289:K154Q	K	-	1	0	FERMT1	6041196	1.000000	0.71417	0.966000	0.40874	0.980000	0.70556	7.190000	0.77755	1.089000	0.41292	0.533000	0.62120	AAA		0.318	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		26	526	0	0	0	1	0	26	526				
APAF1	317	broad.mit.edu	37	12	99071230	99071230	+	Silent	SNP	C	C	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:99071230C>A	ENST00000551964.1	+	13	2557	c.1821C>A	c.(1819-1821)tcC>tcA	p.S607S	APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000357310.1_Silent_p.S607S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	607					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CGAATCTTTCCCGCTTAGTTG	0.368																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(1819-1821)tcC>tcA		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						87.0	75.0	79.0					12																	99071230		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99071230C>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1821C>A	12.37:g.99071230C>A						APAF1_ENST00000550527.1_Silent_p.S596S|APAF1_ENST00000549007.1_Silent_p.S607S|APAF1_ENST00000339433.3_Silent_p.S607S|APAF1_ENST00000359972.2_Silent_p.S596S|APAF1_ENST00000547045.1_Silent_p.S607S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Silent_p.S607S|APAF1_ENST00000333991.1_Intron	p.S607S	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			13	2398	+			607					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.1821C>A	CCDS9069.1																																																																																				0.368	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		11	319	1	0	0.0692343	1	0.0704818	11	319				
AACS	65985	broad.mit.edu	37	12	125612743	125612743	+	Missense_Mutation	SNP	A	A	C	rs548348280		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:125612743A>C	ENST00000316519.6	+	13	1552	c.1346A>C	c.(1345-1347)aAt>aCt	p.N449T	AACS_ENST00000543665.1_5'Flank|AACS_ENST00000261686.6_Missense_Mutation_p.N449T|AACS_ENST00000545511.1_Missense_Mutation_p.I29L|AACS_ENST00000316543.10_Missense_Mutation_p.N47T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	449					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGGCCACAATTTTTCTCTT	0.493																																						ENST00000545511.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(85-87)Att>Ctt		acetoacetyl-CoA synthetase							74.0	68.0	70.0					12																	125612743		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125612743A>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1346A>C	12.37:g.125612743A>C	ENSP00000324842:p.Asn449Thr					AACS_ENST00000316543.10_Missense_Mutation_p.N47T|AACS_ENST00000316519.6_Missense_Mutation_p.N449T|AACS_ENST00000261686.6_Missense_Mutation_p.N449T	p.I29L			Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	3	5072	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.85A>C	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.28|16.28	3.078593|3.078593	0.55753|0.55753	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000545511|ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118	.|T;T;T;T;T	.|0.39787	.|1.06;1.06;2.91;1.06;1.47	4.37|4.37	4.37|4.37	0.52481|0.52481	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52008|0.52008	0.1708|0.1708	L|L	0.59967|0.59967	1.855|1.855	0.80722|0.80722	D|D	1|1	.|D;D	.|0.55605	.|0.965;0.972	.|P;P	.|0.61070	.|0.814;0.883	T|T	0.49399|0.49399	-0.8944|-0.8944	6|10	0.87932|0.08837	D|T	0|0.75	.|.	13.5933|13.5933	0.61971|0.61971	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|449;449	.|Q86V21-2;Q86V21	.|.;AACS_HUMAN	L|T	29|449;449;47;114;4	.|ENSP00000324842:N449T;ENSP00000261686:N449T;ENSP00000324929:N47T;ENSP00000441686:N114T;ENSP00000441331:N4T	ENSP00000441387:I29L|ENSP00000261686:N449T	I|N	+|+	1|2	0|0	AACS|AACS	124178696|124178696	1.000000|1.000000	0.71417|0.71417	0.719000|0.719000	0.30619|0.30619	0.531000|0.531000	0.34715|0.34715	8.730000|8.730000	0.91510|0.91510	1.610000|1.610000	0.50200|0.50200	0.260000|0.260000	0.18958|0.18958	ATT|AAT		0.493	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		24	133	0	0	0	1	0	24	133				
CD209	30835	broad.mit.edu	37	19	7810584	7810584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:7810584G>A	ENST00000315599.7	-	4	590	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000301357.8_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190*|CD209_ENST00000602261.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	190	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCTCCTGCTGCTTAGAT	0.547																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(568-570)Cag>Tag		CD209 molecule							58.0	55.0	56.0					19																	7810584		1869	3829	5698	SO:0001587	stop_gained	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810584G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.568C>T	19.37:g.7810584G>A	ENSP00000315477:p.Gln190*					CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000593660.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000204801.8_Nonsense_Mutation_p.Q146*|CD209_ENST00000601256.1_Nonsense_Mutation_p.Q166*|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Nonsense_Mutation_p.Q166*|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Nonsense_Mutation_p.Q190*	p.Q190*	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	590	-			190			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Nonsense_Mutation	SNP	ENST00000315599.7	37	c.568C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310188	0.40895	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	.	.	.	1.04	-0.307	0.12777	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.8708	0.13631	0.0:0.5693:0.4307:0.0	.	.	.	.	X	190;190;166;146;174	.	ENSP00000204801:Q146X	Q	-	1	0	CD209	7716584	0.988000	0.35896	0.031000	0.17742	0.064000	0.16182	0.224000	0.17738	-0.035000	0.13691	0.305000	0.20034	CAG		0.547	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		43	730	0	0	0	1	0	43	730				
CPM	1368	broad.mit.edu	37	12	69260780	69260780	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:69260780G>A	ENST00000551568.1	-	7	896	c.836C>T	c.(835-837)aCg>aTg	p.T279M	CPM_ENST00000338356.3_Missense_Mutation_p.T279M|CPM_ENST00000546373.1_Missense_Mutation_p.T279M	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	279					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAGCTCCAACGTAATTTCAAA	0.383																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(835-837)aCg>aTg		carboxypeptidase M							105.0	101.0	102.0					12																	69260780		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69260780G>A	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.836C>T	12.37:g.69260780G>A	ENSP00000448517:p.Thr279Met					CPM_ENST00000338356.3_Missense_Mutation_p.T279M|CPM_ENST00000546373.1_Missense_Mutation_p.T279M	p.T279M	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		7	896	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		279					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.836C>T	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.779005|4.779005	0.90195|0.90195	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551897|ENST00000551568;ENST00000338356;ENST00000546373	.|T;T;T	.|0.05786	.|3.39;3.39;3.39	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Peptidase M14, carboxypeptidase A (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37945|0.37945	0.1022|0.1022	M|M	0.93150|0.93150	3.385|3.385	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.48864|0.48864	-0.8997|-0.8997	5|9	.|.	.|.	.|.	-16.4712|-16.4712	19.8696|19.8696	0.96845|0.96845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279	.|P14384	.|CBPM_HUMAN	C|M	82|279	.|ENSP00000448517:T279M;ENSP00000339157:T279M;ENSP00000447255:T279M	.|.	R|T	-|-	1|2	0|0	CPM|CPM	67547047|67547047	1.000000|1.000000	0.71417|0.71417	0.886000|0.886000	0.34754|0.34754	0.869000|0.869000	0.49853|0.49853	9.429000|9.429000	0.97481|0.97481	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.383	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		50	404	0	0	0	1	0	50	404				
RNGTT	8732	broad.mit.edu	37	6	89388128	89388128	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:89388128G>C	ENST00000369485.4	-	14	1636	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E|RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	484	GTase.			Q -> P (in Ref. 1; AAB91559). {ECO:0000305}.	7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CCAACATTCTGAGGAAGTAAC	0.294																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1450-1452)Cag>Gag		RNA guanylyltransferase and 5'-phosphatase							71.0	67.0	68.0					6																	89388128		2203	4300	6503	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89388128G>C	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1450C>G	6.37:g.89388128G>C	ENSP00000358497:p.Gln484Glu					RNGTT_ENST00000369475.3_Missense_Mutation_p.Q484E|RNGTT_ENST00000265607.6_Missense_Mutation_p.Q461E|RNGTT_ENST00000538899.1_Missense_Mutation_p.Q401E	p.Q484E	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	14	1636	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	484	Q -> P (in Ref. 1; AAB91559).		GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.1450C>G	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	4.666	0.123758	0.08931	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	T;T;T;T	0.27557	2.1;2.13;2.12;1.66	5.42	5.42	0.78866	Nucleic acid-binding, OB-fold-like (1);mRNA capping enzyme, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.157913	0.64402	D	0.000015	T	0.06690	0.0171	N	0.12182	0.205	0.49051	D	0.999749	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.10823	-1.0613	10	0.05436	T	0.98	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	401;484;461;484	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	E	484;461;401;455;484	ENSP00000358497:Q484E;ENSP00000265607:Q461E;ENSP00000442609:Q401E;ENSP00000358487:Q484E	ENSP00000265607:Q461E	Q	-	1	0	RNGTT	89444847	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.265000	0.58865	2.687000	0.91594	0.655000	0.94253	CAG		0.294	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			6	164	0	0	0	1	0	6	164				
AMBRA1	55626	broad.mit.edu	37	11	46568662	46568662	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr11:46568662C>T	ENST00000458649.2	-	4	797		c.e4+1		AMBRA1_ENST00000528950.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAATACTCACGTGTAAATCC	0.463																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.e4+1		autophagy/beclin-1 regulator 1							102.0	93.0	96.0					11																	46568662		2201	4299	6500	SO:0001630	splice_region_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46568662C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.378+1G>A	11.37:g.46568662C>T						AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site				Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	4	797	-								A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	SNP	ENST00000458649.2	37			.	.	.	.	.	.	.	.	.	.	C	21.5	4.154684	0.78114	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7889	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMBRA1	46525238	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.497000	0.66924	2.671000	0.90904	0.655000	0.94253	.		0.463	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	Intron	6	347	0	0	0	1	0	6	347				
OGFOD3	79701	broad.mit.edu	37	17	80361874	80361874	+	Missense_Mutation	SNP	C	C	T	rs368120240		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:80361874C>T	ENST00000313056.5	-	7	789	c.638G>A	c.(637-639)cGc>cAc	p.R213H	OGFOD3_ENST00000329197.5_Missense_Mutation_p.R213H|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	213	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										GCTGTTTATGCGGGAGAAGAA	0.642																																						ENST00000313056.5																			0											c.(637-639)cGc>cAc		2-oxoglutarate and iron-dependent oxygenase domain containing 3							107.0	81.0	89.0					17																	80361874		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80361874C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.638G>A	17.37:g.80361874C>T	ENSP00000320116:p.Arg213His					OGFOD3_ENST00000329197.5_Missense_Mutation_p.R213H	p.R213H	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					7	789	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.638G>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940030	0.92526	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.46063	1.49;0.88	5.25	5.25	0.73442	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77579	-0.2535	10	0.87932	D	0	-24.4987	17.4316	0.87541	0.0:1.0:0.0:0.0	.	213;213	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	H	213	ENSP00000320116:R213H;ENSP00000330075:R213H	ENSP00000320116:R213H	R	-	2	0	C17orf101	77955163	1.000000	0.71417	0.997000	0.53966	0.626000	0.37791	6.896000	0.75665	2.439000	0.82584	0.655000	0.94253	CGC		0.642	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		3	46	0	0	0	1	0	3	46				
GNE	10020	broad.mit.edu	37	9	36217507	36217507	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:36217507T>C	ENST00000539815.1	-	11	2064	c.2024A>G	c.(2023-2025)tAt>tGt	p.Y675C	GNE_ENST00000543356.2_Missense_Mutation_p.Y670C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000396594.3_Missense_Mutation_p.Y706C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000539208.1_Missense_Mutation_p.Y565C			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	675	N-acetylmannosamine kinase.		Y -> H (in IBM2). {ECO:0000269|PubMed:12409274}.		carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AATGTGGATATAGTGACTGGC	0.552																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2116-2118)tAt>tGt		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							119.0	91.0	100.0					9																	36217507		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36217507T>C	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.2024A>G	9.37:g.36217507T>C	ENSP00000439155:p.Tyr675Cys					GNE_ENST00000539208.1_Missense_Mutation_p.Y565C|GNE_ENST00000539815.1_Missense_Mutation_p.Y675C|GNE_ENST00000447283.2_Missense_Mutation_p.Y601C|GNE_ENST00000377902.5_Missense_Mutation_p.Y675C|GNE_ENST00000543356.2_Missense_Mutation_p.Y670C	p.Y706C	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	2228	-			675			N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.2117A>G	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425353	0.83667	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99571	-4.83;-4.83;-4.83;-4.83;-6.19	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.984	D	0.98523	1.0624	10	0.52906	T	0.07	-0.3546	13.6629	0.62378	0.0:0.0:0.0:1.0	.	565;634;706;675;601	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	C	675;706;670;675;647;565;601	ENSP00000367134:Y675C;ENSP00000379839:Y706C;ENSP00000439155:Y675C;ENSP00000445117:Y565C;ENSP00000414760:Y601C	ENSP00000340770:Y670C	Y	-	2	0	GNE	36207507	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	7.649000	0.83500	2.119000	0.64992	0.459000	0.35465	TAT		0.552	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		8	229	0	0	0	1	0	8	229				
RP11-467H10.2	0	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	G	C	rs200475663	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:76681226G>C	ENST00000459742.1	+	0	58																											TGTCACACTTGAAGGAGGCAG	0.453																																						ENST00000459742.1																			0																																																			0							g.chr7:76681226G>C																													7.37:g.76681226G>C														0	58	+									RNA	SNP	ENST00000459742.1	37																																																																																						0.453	RP11-467H10.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473089.1			5	31	0	0	0	1	0	5	31				
ENPP5	59084	broad.mit.edu	37	6	46129388	46129388	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:46129388G>T	ENST00000371383.2	-	5	1369	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CAAATCTGTGGAGTTCATGGC	0.448																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1108-1110)tCc>tAc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							272.0	279.0	277.0					6																	46129388		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129388G>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1109C>A	6.37:g.46129388G>T	ENSP00000360436:p.Ser370Tyr					ENPP5_ENST00000230565.3_Missense_Mutation_p.S370Y	p.S370Y			Q9UJA9	ENPP5_HUMAN			5	1369	-			370						Missense_Mutation	SNP	ENST00000371383.2	37	c.1109C>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123031	0.77436	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75477	-0.94;-0.94	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.058148	0.64402	D	0.000001	T	0.78362	0.4271	M	0.84773	2.715	0.41991	D	0.990848	P	0.47545	0.897	P	0.49561	0.615	T	0.82637	-0.0359	10	0.72032	D	0.01	-14.2993	14.3827	0.66921	0.0:0.0:0.853:0.147	.	370	Q9UJA9	ENPP5_HUMAN	Y	370	ENSP00000360436:S370Y;ENSP00000230565:S370Y	ENSP00000230565:S370Y	S	-	2	0	ENPP5	46237347	0.305000	0.24481	1.000000	0.80357	0.998000	0.95712	1.583000	0.36579	2.656000	0.90262	0.655000	0.94253	TCC		0.448	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			42	1243	1	0	7.26314e-15	1	7.89168e-15	42	1243				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		21	117	0	0	0	1	0	21	117				
CSMD2	114784	broad.mit.edu	37	1	34285425	34285425	+	Missense_Mutation	SNP	C	C	T	rs369228743		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34285425C>T	ENST00000373381.4	-	9	1389	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	365	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGAACTGGACGCTGGATCCT	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1213-1215)Gtc>Atc		CUB and Sushi multiple domains 2		C	ILE/VAL	0,4406		0,0,2203	94.0	86.0	89.0		1093	4.8	1.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	365/3488	34285425	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34285425C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1213G>A	1.37:g.34285425C>T	ENSP00000362479:p.Val405Ile						p.V405I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			9	1389	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	365			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1213G>A		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738794	0.49045	0.0	1.16E-4	ENSG00000121904	ENST00000373381	T	0.68331	-0.32	5.81	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.146208	0.46758	D	0.000267	T	0.51618	0.1685	L	0.42008	1.315	0.80722	D	1	B;B	0.24963	0.024;0.115	B;B	0.27500	0.05;0.08	T	0.46665	-0.9175	10	0.18276	T	0.48	.	4.3392	0.11101	0.0:0.7207:0.0:0.2793	.	365;405	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	405	ENSP00000362479:V405I	ENSP00000241312:V365I	V	-	1	0	CSMD2	34058012	0.808000	0.29022	1.000000	0.80357	0.990000	0.78478	1.213000	0.32407	2.746000	0.94184	0.655000	0.94253	GTC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		13	246	0	0	0	1	0	13	246				
ZNF784	147808	broad.mit.edu	37	19	56133798	56133798	+	Silent	SNP	A	A	C			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:56133798A>C	ENST00000325351.4	-	2	330	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	97					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGGGTCCCCACCCTGCCCGC	0.711																																						ENST00000325351.4																			0				upper_aerodigestive_tract(1)	1						c.(289-291)ggT>ggG		zinc finger protein 784																																				SO:0001819	synonymous_variant	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56133798A>C	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.291T>G	19.37:g.56133798A>C						ZNF784_ENST00000591479.1_3'UTR	p.G97G	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	330	-			97						Silent	SNP	ENST00000325351.4	37	c.291T>G	CCDS12930.1																																																																																				0.711	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		6	57	0	0	0	1	0	6	57				
SDK1	221935	broad.mit.edu	37	7	4153009	4153009	+	Missense_Mutation	SNP	G	G	A	rs149058628		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:4153009G>A	ENST00000404826.2	+	24	3662	c.3523G>A	c.(3523-3525)Gtg>Atg	p.V1175M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1175					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACCCGACGTGGCTCCAAC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17070	0.001		0.0	False		,,,				2504	0.0					ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3523-3525)Gtg>Atg		sidekick cell adhesion molecule 1		G	MET/VAL	0,4406		0,0,2203	113.0	120.0	118.0		3523	3.8	1.0	7	dbSNP_134	118	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SDK1	NM_152744.3	21	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign	1175/2214	4153009	8,12998	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153009G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3523G>A	7.37:g.4153009G>A	ENSP00000385899:p.Val1175Met					SDK1_ENST00000389531.3_Missense_Mutation_p.V1175M	p.V1175M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3662	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1175			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3523G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313323	0.23908	0.0	9.3E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61742	0.08;0.1	4.92	3.78	0.43462	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.219434	0.29152	N	0.012995	T	0.51805	0.1696	N	0.13352	0.335	0.33461	D	0.584885	B;D	0.67145	0.378;0.996	B;P	0.61397	0.064;0.888	T	0.58329	-0.7655	10	0.33141	T	0.24	.	8.9736	0.35921	0.2034:0.0:0.7966:0.0	.	1175;1175	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1175	ENSP00000385899:V1175M;ENSP00000374182:V1175M	ENSP00000374182:V1175M	V	+	1	0	SDK1	4119535	0.972000	0.33761	0.970000	0.41538	0.435000	0.31806	1.801000	0.38843	2.437000	0.82529	0.655000	0.94253	GTG		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		291	959	0	0	0	1	0	291	959				
FLRT2	23768	broad.mit.edu	37	14	86089264	86089264	+	Missense_Mutation	SNP	G	G	A	rs200926038		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:86089264G>A	ENST00000330753.4	+	2	2173	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTCAGGAGCGCATAGTCAGC	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1405-1407)cGc>cAc		fibronectin leucine rich transmembrane protein 2							128.0	112.0	117.0					14																	86089264		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089264G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1406G>A	14.37:g.86089264G>A	ENSP00000332879:p.Arg469His					FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2173	+			469			Fibronectin type-III.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1406G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037144	0.75617	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58060	0.36;0.36	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.61667	-0.7016	10	0.45353	T	0.12	-24.0392	20.8794	0.99867	0.0:0.0:1.0:0.0	.	469	O43155	FLRT2_HUMAN	H	469;469;122	ENSP00000332879:R469H;ENSP00000451050:R469H	ENSP00000332879:R469H	R	+	2	0	FLRT2	85159017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.947000	0.56652	2.941000	0.99782	0.655000	0.94253	CGC		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			9	559	0	0	0	1	0	9	559				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T														0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		4	229	0	0	0	1	0	4	229				
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	lincRNA	SNP	C	C	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:16956761C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGGACCTGCCCTGGGGCAG	0.647																																						ENST00000412962.1																			0																																																			0							g.chr1:16956761C>G	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.16956761C>G														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	44	0	0	0	1	0	4	44				
PCDH17	27253	broad.mit.edu	37	13	58208534	58208534	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:58208534C>T	ENST00000377918.3	+	1	1880	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGACTTCGGCGAGAGCGGGC	0.657																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1852-1854)ggC>ggT		protocadherin 17							47.0	46.0	46.0					13																	58208534		2203	4298	6501	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208534C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1854C>T	13.37:g.58208534C>T							p.G618G	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1880	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	618			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1854C>T	CCDS31986.1																																																																																				0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	451	0	0	0	1	0	8	451				
CDK3	1018	broad.mit.edu	37	17	73997474	73997474	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs2069528	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:73997474G>A	ENST00000425876.2	+	0	56				TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622													A|||	4217	0.842053	0.9584	0.7622	5008	,	,		15279	0.8829		0.7237	False		,,,				2504	0.8211					ENST00000425876.2																			0				central_nervous_system(1)	1								cyclin-dependent kinase 3		A		4073,333	174.4+/-204.0	1885,303,15	75.0	63.0	67.0			-5.6	0.0	17	dbSNP_96	67	6372,2226	376.3+/-338.1	2354,1664,281	no	intron	CDK3	NM_001258.2		4239,1967,296	AA,AG,GG		25.8897,7.5579,19.6786			73997474	10445,2559	2203	4299	6502			1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73997474G>A	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.-33G>A	17.37:g.73997474G>A						TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron				Q00526	CDK3_HUMAN			0	56	+									Translation_Start_Site	SNP	ENST00000425876.2	37		CCDS11736.1																																																																																				0.622	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		5	131	0	0	0	1	0	5	131				
WDR1	9948	broad.mit.edu	37	4	10080533	10080533	+	Silent	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:10080533C>T	ENST00000499869.2	-	12	1570	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	WDR1_ENST00000515743.1_5'UTR|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000382452.2_Silent_p.T459T|WDR1_ENST00000382451.2_Silent_p.T319T			O75083	WDR1_HUMAN	WD repeat domain 1	459					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CAATTGCCACCGTGTCCCCGC	0.592																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1375-1377)acG>acA		WD repeat domain 1							78.0	95.0	90.0					4																	10080533		2010	4170	6180	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080533C>T	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1377G>A	4.37:g.10080533C>T						WDR1_ENST00000502702.1_Silent_p.T319T|WDR1_ENST00000499869.2_Silent_p.T459T|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.T319T	p.T459T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	12	1659	-			459					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1377G>A	CCDS54740.1																																																																																				0.592	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			5	259	0	0	0	1	0	5	259				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	35	0	0	0	1	0	4	35				
SEPT12	124404	broad.mit.edu	37	16	4836091	4836091	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:4836091C>T	ENST00000268231.8	-	3	445	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D|SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589327.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	61	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTGGACTTGCCCAGCCCGCT	0.522																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(181-183)gGc>gAc		septin 12							59.0	51.0	54.0					16																	4836091		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4836091C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.182G>A	16.37:g.4836091C>T	ENSP00000268231:p.Gly61Asp					SEPT12_ENST00000396693.5_Missense_Mutation_p.G61D|SEPT12_ENST00000591861.1_5'UTR	p.G61D	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			3	445	-			61					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.182G>A	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603864	0.87157	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	D;D	0.99418	-5.87;-4.05	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96482	0.9357	10	0.87932	D	0	.	16.283	0.82707	0.0:1.0:0.0:0.0	.	61;61	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	D	61	ENSP00000379922:G61D;ENSP00000268231:G61D	ENSP00000268231:G61D	G	-	2	0	SEPT12	4776092	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.545000	0.82128	2.399000	0.81585	0.563000	0.77884	GGC		0.522	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		16	172	0	0	0	1	0	16	172				
ATP2A2	488	broad.mit.edu	37	12	110765385	110765385	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:110765385A>G	ENST00000539276.2	+	8	767	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V|ATP2A2_ENST00000395494.2_Missense_Mutation_p.M193V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	220					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGGAAAGCTATGGGAGTGGT	0.463																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(577-579)Atg>Gtg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							192.0	191.0	192.0					12																	110765385		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110765385A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.658A>G	12.37:g.110765385A>G	ENSP00000440045:p.Met220Val					ATP2A2_ENST00000539276.2_Missense_Mutation_p.M220V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.M220V	p.M193V			P16615	AT2A2_HUMAN			7	1140	+			220					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.577A>G	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.218|9.218	1.032607|1.032607	0.19590|0.19590	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.90004|.	-2.6;-2.6;-2.6|.	5.38|5.38	5.38|5.38	0.77491|0.77491	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.135853|.	0.85682|.	D|.	0.000000|.	T|T	0.21267|0.21267	0.0512|0.0512	N|N	0.00760|0.00760	-1.21|-1.21	0.40109|0.40109	D|D	0.976467|0.976467	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.30909|0.30909	-0.9962|-0.9962	10|5	0.11794|.	T|.	0.64|.	.|.	15.7336|15.7336	0.77825|0.77825	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	193;220;220|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	V|C	220;193;220|110	ENSP00000311186:M220V;ENSP00000378872:M193V;ENSP00000440045:M220V|.	ENSP00000311186:M220V|.	M|Y	+|+	1|2	0|0	ATP2A2|ATP2A2	109249768|109249768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.131000|6.131000	0.71670|0.71670	2.169000|2.169000	0.68431|0.68431	0.477000|0.477000	0.44152|0.44152	ATG|TAT		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		32	882	0	0	0	1	0	32	882				
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gaggcggtggcggcggcggca	0.786																																						ENST00000426828.1																			0																																																			0							g.chr7:64498737C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498737C>A								NR_033416.1						0	0	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.786	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			8	62	1	0	9.70103e-10	1	1.0245e-09	8	62				
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr22:23243367T>C	ENST00000390323.2	+	0	212				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTATCTGAGCCTGA	0.587																																						ENST00000390323.2																			0																				76.0	81.0	79.0					22																	23243367		2072	4132	6204			0							g.chr22:23243367T>C	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243367T>C														0	212	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.587	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		4	99	0	0	0	1	0	4	99				
KRT7	3855	broad.mit.edu	37	12	52639214	52639214	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr12:52639214G>A	ENST00000331817.5	+	7	1186	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	335	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GTTGGAGGCCGCCATTGCCGA	0.657																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1003-1005)Gcc>Acc		keratin 7							24.0	25.0	25.0					12																	52639214		2202	4299	6501	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639214G>A		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1003G>A	12.37:g.52639214G>A	ENSP00000329243:p.Ala335Thr					RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	p.A335T	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1186	+			335			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.1003G>A	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613607	0.66672	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	T	0.77229	-1.08	4.4	1.86	0.25419	Filament (1);	0.422512	0.17624	N	0.167626	T	0.71500	0.3347	L	0.58969	1.84	0.25362	N	0.988777	D	0.60160	0.987	P	0.45971	0.499	T	0.65331	-0.6194	10	0.87932	D	0	.	3.6871	0.08332	0.1184:0.1464:0.5855:0.1496	.	335	P08729	K2C7_HUMAN	T	335;311	ENSP00000329243:A335T	ENSP00000329243:A335T	A	+	1	0	KRT7	50925481	0.610000	0.26983	0.841000	0.33234	0.981000	0.71138	0.961000	0.29267	0.867000	0.35654	0.561000	0.74099	GCC		0.657	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		4	134	0	0	0	1	0	4	134				
HMGB4	127540	broad.mit.edu	37	1	34329991	34329991	+	Missense_Mutation	SNP	G	G	A	rs369597433		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:34329991G>A	ENST00000522796.1	+	4	2104	c.199G>A	c.(199-201)Gac>Aac	p.D67N	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N			Q8WW32	HMGB4_HUMAN	high mobility group box 4	67						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCAAACTCGACAAAGCCCG	0.458																																						ENST00000522796.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(199-201)Gac>Aac		high mobility group box 4		G	,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	122.0	139.0	133.0		,199	4.7	0.9	1		133	0,8600		0,0,4300	no	intron,missense	CSMD2,HMGB4	NM_052896.3,NM_145205.4	,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,67/187	34329991	1,13005	2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34329991G>A		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.199G>A	1.37:g.34329991G>A	ENSP00000430919:p.Asp67Asn					CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.D67N|HMGB4_ENST00000425537.1_3'UTR	p.D67N			B2R4X7	B2R4X7_HUMAN			4	2104	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	67					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.199G>A	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783901	0.90282	2.27E-4	0.0	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.15603	2.41;2.41	5.58	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.85462	2.755	0.48288	D	0.999629	D	0.56746	0.977	P	0.46253	0.509	T	0.19289	-1.0310	10	0.62326	D	0.03	.	10.2395	0.43303	0.0883:0.0:0.9117:0.0	.	67	B2R4X7	.	N	67	ENSP00000429214:D67N;ENSP00000430919:D67N	ENSP00000429214:D67N	D	+	1	0	HMGB4	34102578	1.000000	0.71417	0.899000	0.35326	0.940000	0.58332	3.979000	0.56888	1.602000	0.50124	0.609000	0.83330	GAC		0.458	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		62	584	0	0	0	1	0	62	584				
SMG1	23049	broad.mit.edu	37	16	18896929	18896929	+	Silent	SNP	A	A	G			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr16:18896929A>G	ENST00000446231.2	-	7	1294	c.882T>C	c.(880-882)tgT>tgC	p.C294C	SMG1_ENST00000389467.3_Silent_p.C294C|SMG1_ENST00000565224.1_Silent_p.C268C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	294	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAACACATTTACAAAGCAATT	0.373																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(880-882)tgT>tgC		SMG1 phosphatidylinositol 3-kinase-related kinase							102.0	106.0	105.0					16																	18896929		999	2082	3081	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18896929A>G	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.882T>C	16.37:g.18896929A>G						SMG1_ENST00000565224.1_Silent_p.C268C|SMG1_ENST00000389467.3_Silent_p.C294C	p.C294C			Q96Q15	SMG1_HUMAN			7	1294	-			294			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.882T>C	CCDS45430.1																																																																																				0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	320	0	0	0	1	0	5	320				
DCT	1638	broad.mit.edu	37	13	95095781	95095781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr13:95095781G>T	ENST00000377028.5	-	7	1703	c.1290C>A	c.(1288-1290)taC>taA	p.Y430*	DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	430					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAACCATGTTGTACATCCGAT	0.463																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1288-1290)taC>taA		dopachrome tautomerase							118.0	108.0	112.0					13																	95095781		2203	4300	6503	SO:0001587	stop_gained	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95095781G>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1290C>A	13.37:g.95095781G>T	ENSP00000366227:p.Tyr430*					DCT_ENST00000446125.1_Nonsense_Mutation_p.Y463*	p.Y430*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	7	1703	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	430					Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	c.1290C>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	39	7.809290	0.98501	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	.	.	.	5.86	-1.14	0.09741	.	0.123114	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-14.94	14.3767	0.66884	0.417:0.0:0.583:0.0	.	.	.	.	X	37;430;463	.	ENSP00000366220:Y37X	Y	-	3	2	DCT	93893782	0.688000	0.27680	0.973000	0.42090	0.859000	0.49053	-0.101000	0.10973	-0.421000	0.07416	-0.142000	0.14014	TAC		0.463	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			33	245	1	0	1.71298e-08	1	1.79228e-08	33	245				
PADI6	353238	broad.mit.edu	37	1	17699379	17699380	+	RNA	INS	-	-	AC	rs10690473|rs71672613		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:17699379_17699380insAC	ENST00000434762.2	+	0	166							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCGGAGAGCAAACACAGGGGTC	0.569																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17699379_17699380insAC	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699382_17699383dupAC										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	166	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	INS	ENST00000434762.2	37																																																																																						0.569	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	9						4	9	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	76						8	76	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm (GO:0005737)		p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	1,4261		0,1,2130					,,	-3.4	0.0			208	4,8246		0,4,4121	no	frameshift,frameshift,frameshift	EPS8L3	NM_139053.2,NM_133181.3,NM_024526.3	,,	0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		5,12507				SO:0001589	frameshift_variant	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.819dupA	1.37:g.110300587_110300587dupT	ENSP00000355255:p.Asn273fs					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	862						7	862	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			14	453						14	453	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs56026824|rs113058116	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTAGATTGTTATTTCGTTTTT	0.416													A|A|AA|insertion	2465	0.492212	0.497	0.4914	5008	,	,		69600	0.4891		0.4891	False		,,,				2504	0.4928					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145116147_145116148insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116148_145116148dupA										O75396	SC22B_HUMAN			0	1233_1234	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	6						3	6	---	---	---	---
LINC01317	104355287	broad.mit.edu	37	2	34041837	34041838	+	lincRNA	INS	-	-	CCTCC	rs140516377|rs141683394|rs57636772		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:34041837_34041838insCCTCC	ENST00000366209.2	+	0	68																											tcttctcttctcctcccctccc	0.48																																						ENST00000366209.2																			0																																																			0							g.chr2:34041837_34041838insCCTCC																													2.37:g.34041843_34041847dupCCTCC														0	68	+									RNA	INS	ENST00000366209.2	37																																																																																						0.480	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			4	6						4	6	---	---	---	---
AC073218.1	0	broad.mit.edu	37	2	34722106	34722106	+	lincRNA	DEL	C	C	-	rs60359332|rs13421908	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:34722106delC	ENST00000422558.1	+	0	475																											ttttttttttcgacagggtct	0.418																																						ENST00000422558.1																			0																																																			0							g.chr2:34722106delC																													2.37:g.34722106delC														0	475	+									RNA	DEL	ENST00000422558.1	37																																																																																						0.418	AC073218.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000325415.1			2	4						2	4	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73613032	73613037	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-	rs61156725|rs70965731|rs72319667|rs3074417	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:73613032_73613037delGGAGGA	ENST00000264448.6	+	1	147_152	c.36_41delGGAGGA	c.(34-42)ctggaggag>ctg	p.EE27del	ALMS1_ENST00000409009.1_In_Frame_Del_p.EE27del|ALMS1_ENST00000377715.1_In_Frame_Del_p.EE27del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	27	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CGGGCGAGCTggaggaggaggaggag	0.694														3836	0.765974	0.9183	0.7176	5008	,	,		6363	0.7024		0.6819	False		,,,				2504	0.7464					ENST00000264448.6																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.E27_E28delEE(1)|p.E28_A29insE(1)	ovary(1)|breast(1)	breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(34-42)ctg>ct		Alstrom syndrome 1																																				SO:0001651	inframe_deletion	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613032_73613037delGGAGGA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.36_41delGGAGGA	2.37:g.73613038_73613043delGGAGGA	ENSP00000264448:p.Glu27_Glu28del					ALMS1_ENST00000409009.1_In_Frame_Del_p.LEE12del|ALMS1_ENST00000377715.1_In_Frame_Del_p.LEE12del	p.LEE12del	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			1	147_152	+			12			Glu-rich.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	ENST00000264448.6	37	c.36_41delGGAGGA	CCDS42697.1																																																																																				0.694	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	2						5	2	---	---	---	---
LOC442028	442028	broad.mit.edu	37	2	95558422	95558423	+	RNA	INS	-	-	T	rs201628538		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:95558422_95558423insT	ENST00000568768.1	-	0	476																											ATCTGGACCCCGTTTGCAATCT	0.475																																						ENST00000568768.1																			0																																																			0							g.chr2:95558422_95558423insT																													2.37:g.95558422_95558423insT														0	476	-									RNA	INS	ENST00000568768.1	37																																																																																						0.475	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			7	66						7	66	---	---	---	---
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)ttcfs	p.F217fs	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602																																						ENST00000288943.4																			0				NS(1)|breast(1)|lung(2)|skin(1)	5						c.(649-651)tcfs		dual specificity phosphatase 2							87.0	80.0	83.0					2																	96809973		2203	4300	6503	SO:0001589	frameshift_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809973delA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.650delT	2.37:g.96809973delA	ENSP00000288943:p.Phe217fs						p.F217fs	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN			3	735	-		Ovarian(717;0.0228)	217					Q53T45	Frame_Shift_Del	DEL	ENST00000288943.4	37	c.650delT	CCDS2016.1																																																																																				0.602	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		7	598						7	598	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			9	834						9	834	---	---	---	---
AC027119.1	0	broad.mit.edu	37	3	6147264	6147265	+	lincRNA	INS	-	-	T	rs139827402|rs28653365|rs202140282	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr3:6147264_6147265insT	ENST00000425894.1	+	0	322																											tccCCTCTCTCTTTTTTTTTTT	0.455																																						ENST00000425894.1																			0																																																			0							g.chr3:6147264_6147265insT																													3.37:g.6147275_6147275dupT														0	322	+									RNA	INS	ENST00000425894.1	37																																																																																						0.455	AC027119.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000337609.1			2	4						2	4	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	370						8	370	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		8	1767						8	1767	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)attfs	p.I299fs	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(895-897)ttfs		homeobox A11							78.0	79.0	79.0					7																	27222462		2203	4300	6503	SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222462delT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.895delA	7.37:g.27222462delT	ENSP00000006015:p.Ile299fs						p.I299fs	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	966	-			299					A4D190	Frame_Shift_Del	DEL	ENST00000006015.3	37	c.895delA	CCDS5411.1																																																																																				0.448	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			7	743						7	743	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		7	11						7	11	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139878082	139878089	+	5'Flank	DEL	TCCCTCCC	TCCCTCCC	-	rs146325560|rs57191915|rs56784277|rs151002849|rs142303955|rs386718447|rs144362124|rs139263707	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr7:139878082_139878089delTCCCTCCC	ENST00000397560.2	-	0	0				JHDM1D-AS1_ENST00000566699.1_RNA|JHDM1D_ENST00000006967.5_5'Flank	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN							histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					cttccttccttccctccctccCTTTCCT	0.471																																						ENST00000566699.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr7:139878082_139878089delTCCCTCCC																													7.37:g.139878082_139878089delTCCCTCCC	Exception_encountered							NR_024451.1						0	1022_1029	+								A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	RNA	DEL	ENST00000397560.2	37		CCDS43658.1																																																																																				0.471	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			4	6						4	6	---	---	---	---
MTND2P32	100873237	broad.mit.edu	37	8	32874028	32874029	+	lincRNA	INS	-	-	GT	rs141368832|rs35377067|rs201097170		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:32874028_32874029insGT	ENST00000500843.2	+	0	139																											aatgagtgagagtgtgtgtgtg	0.48																																						ENST00000500843.2																			0																																																			0							g.chr8:32874028_32874029insGT																													8.37:g.32874037_32874038dupGT														0	139	+									RNA	INS	ENST00000500843.2	37																																																																																						0.480	RP11-11N9.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000376538.1			4	4						4	4	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:74507471delT	ENST00000521451.1	-	6	807	c.431delA	c.(430-432)aatfs	p.N144fs	STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000355780.5_Frame_Shift_Del_p.N332fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328																																						ENST00000355780.5																			1	Deletion - Frameshift(1)	p.N332fs*67(1)	ovary(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(994-996)atfs		staufen double-stranded RNA binding protein 2							148.0	126.0	133.0					8																	74507471		2203	4298	6501	SO:0001589	frameshift_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74507471delT	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.431delA	8.37:g.74507471delT	ENSP00000428476:p.Asn144fs					STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs	p.N332fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		10	1213	-	Breast(64;0.0138)		364			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Del	DEL	ENST00000521451.1	37	c.995delA																																																																																					0.328	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		10	493						10	493	---	---	---	---
CCDC26	137196	broad.mit.edu	37	8	130486240	130486241	+	lincRNA	INS	-	-	GCTTAACATG	rs34691467|rs112419261	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr8:130486240_130486241insGCTTAACATG	ENST00000446592.3	-	0	360							Q8TAB7	CCD26_HUMAN	CCDC26 long non-coding RNA																		ggctcagctcagcttaacatgg	0.545														3379	0.67472	0.8812	0.5418	5008	,	,		21060	0.4871		0.6203	False		,,,				2504	0.7393					ENST00000446592.3																			0																																																			0							g.chr8:130486240_130486241insGCTTAACATG	BC026098		8q24.21	2014-04-01	2014-03-27		ENSG00000229140	ENSG00000229140			28416	non-coding RNA	RNA, long non-coding	"""retinoic acid modulator"""	613040	"""coiled-coil domain containing 26"""			16449964, 23399484	Standard			Approved	MGC27434, RAM	uc003ysq.2	Q8TAB7	OTTHUMG00000164848		8.37:g.130486241_130486250dupGCTTAACATG														0	360	-									RNA	INS	ENST00000446592.3	37																																																																																						0.545	CCDC26-001	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000380581.1			4	4						4	4	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs369721488|rs150805048		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1.0	0.0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		10	330						10	330	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			0							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			8	7						8	7	---	---	---	---
LYZL1	84569	broad.mit.edu	37	10	29599965	29599965	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:29599965delA	ENST00000375500.3	+	5	619	c.562delA	c.(562-564)aaafs	p.K189fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	143					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512																																						ENST00000375500.3																			0				central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(562-564)aafs		lysozyme-like 1							204.0	196.0	199.0					10																	29599965		2203	4300	6503	SO:0001589	frameshift_variant	84569				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:29599965delA		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.562delA	10.37:g.29599965delA	ENSP00000364650:p.Lys189fs						p.K189fs	NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN			5	619	+		Breast(68;0.203)	143					Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	c.562delA	CCDS31174.1																																																																																				0.512	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517		7	1022						7	1022	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582841	55582842	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:55582841_55582842insA	ENST00000320301.6	-	33	5038_5039	c.4644_4645insT	c.(4642-4647)tttgtafs	p.V1549fs	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.V1509fs|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.V1546fs|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.V1480fs|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Frame_Shift_Ins_p.V1551fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.V1526fs	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1549					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTTC	0.411										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4648-4653)tttagafs		protocadherin-related 15																																				SO:0001589	frameshift_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582841_55582842insA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4645dupT	10.37:g.55582845_55582845dupA	ENSP00000322604:p.Val1549fs	HNSCC(58;0.16)				PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Frame_Shift_Ins_p.R1546fs|PCDH15_ENST00000395433.1_Frame_Shift_Ins_p.R1526fs|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Frame_Shift_Ins_p.R1549fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Frame_Shift_Ins_p.R1509fs|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Ins_p.R1480fs	p.R1551fs	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	5044_5045	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1549					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Ins	INS	ENST00000320301.6	37	c.4650_4651insT	CCDS7248.1																																																																																				0.411	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		61	752						61	752	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129904534	129904535	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr10:129904534_129904535insT	ENST00000368654.3	-	13	5944_5945	c.5569_5570insA	c.(5569-5571)atafs	p.I1857fs	MKI67_ENST00000368653.3_Frame_Shift_Ins_p.I1497fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1857	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGCAGAGTATTTTTTTGGTA	0.48																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5569-5571)actfs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904534_129904535insT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5570dupA	10.37:g.129904541_129904541dupT	ENSP00000357643:p.Ile1857fs					MKI67_ENST00000368653.3_Frame_Shift_Ins_p.T1497fs	p.T1857fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5944_5945	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1857			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Ins	INS	ENST00000368654.3	37	c.5569_5570insA	CCDS7659.1																																																																																				0.480	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	1379						7	1379	---	---	---	---
RP11-116N8.1	0	broad.mit.edu	37	14	36463320	36463321	+	RNA	INS	-	-	CTTT	rs75897973		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr14:36463320_36463321insCTTT	ENST00000550089.1	+	0	242																											ttccttccttcctttctttctt	0.396																																						ENST00000550089.1																			0																																																			0							g.chr14:36463320_36463321insCTTT																													14.37:g.36463325_36463328dupCTTT														0	242	+									RNA	INS	ENST00000550089.1	37																																																																																						0.396	RP11-116N8.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000409615.1			4	6						4	6	---	---	---	---
RP11-522B15.3	0	broad.mit.edu	37	15	96920150	96920173	+	lincRNA	DEL	TCTTTCTTTCTTTCTTTCTTTCTT	TCTTTCTTTCTTTCTTTCTTTCTT	-	rs59076320|rs369066450|rs376411738|rs72101969|rs572086863	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr15:96920150_96920173delTCTTTCTTTCTTTCTTTCTTTCTT	ENST00000558499.1	+	0	123																											ctttcttttctctttctttctttctttctttctttctttctttc	0.321																																						ENST00000558499.1																			0																																																			0							g.chr15:96920150_96920173delTCTTTCTTTCTTTCTTTCTTTCTT																													15.37:g.96920150_96920173delTCTTTCTTTCTTTCTTTCTTTCTT														0	123	+									RNA	DEL	ENST00000558499.1	37																																																																																						0.321	RP11-522B15.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415392.1			3	3						3	3	---	---	---	---
TMEM220-AS1	101101775	broad.mit.edu	37	17	10647269	10647270	+	RNA	INS	-	-	CTTC	rs56218112|rs139049457|rs531216295	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:10647269_10647270insCTTC	ENST00000583343.1	+	0	144				CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA																							tccctccttctcttccttcctt	0.416														2585	0.516174	0.6543	0.4755	5008	,	,		10632	0.5565		0.4553	False		,,,				2504	0.3793					ENST00000583343.1																			0																																																			0							g.chr17:10647269_10647270insCTTC																													17.37:g.10647274_10647277dupCTTC						CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA								0	144	+									RNA	INS	ENST00000583343.1	37																																																																																						0.416	CTC-297N7.5-004	KNOWN	basic	antisense	antisense	OTTHUMT00000441072.1			4	2						4	2	---	---	---	---
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs539058062	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													|||unknown(NO_COVERAGE)	1336	0.266773	0.2292	0.2767	5008	,	,		11315	0.2778		0.2584	False		,,,				2504	0.3078					ENST00000578210.1																			0																																																			0							g.chr17:20623668delT																													17.37:g.20623668delT								NR_073509.1						0	150	+									RNA	DEL	ENST00000578210.1	37																																																																																						0.572	AC126365.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443937.1			4	8						4	8	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76800004	76800004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr17:76800004delT	ENST00000542802.3	-	16	2716	c.2273delA	c.(2272-2274)cacfs	p.H758fs	USP36_ENST00000312010.6_Frame_Shift_Del_p.H758fs|USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	758					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGGGTGGGGGCTGAA	0.627																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2272-2274)ccfs		ubiquitin specific peptidase 36							22.0	31.0	28.0					17																	76800004		1787	3375	5162	SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76800004delT	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2273delA	17.37:g.76800004delT	ENSP00000441214:p.His758fs					USP36_ENST00000542802.2_Frame_Shift_Del_p.H758fs|USP36_ENST00000449938.2_Frame_Shift_Del_p.H458fs	p.H758fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2597	-			758					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Del	DEL	ENST00000542802.3	37	c.2273delA	CCDS32755.1																																																																																				0.627	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		7	341						7	341	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			8	11						8	11	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49355519	49355530	+	In_Frame_Del	DEL	GTCTCTCTTAAG	GTCTCTCTTAAG	-	rs192010295|rs147150671	byFrequency	TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chr19:49355519_49355530delGTCTCTCTTAAG	ENST00000263265.6	-	13	1935_1946	c.1380_1391delCTTAAGAGAGAC	c.(1378-1392)accttaagagagacg>acg	p.460_464TLRET>T	PLEKHA4_ENST00000355496.5_In_Frame_Del_p.435_439TLRET>T	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	460						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTACTCCAGCGTCTCTCTTAAGGTGCCCAGCT	0.566																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1378-1392)acg>ac		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001651	inframe_deletion	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49355519_49355530delGTCTCTCTTAAG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1380_1391delCTTAAGAGAGAC	19.37:g.49355519_49355530delGTCTCTCTTAAG	ENSP00000263265:p.Thr460_Glu463del					PLEKHA4_ENST00000355496.5_In_Frame_Del_p.TLRET435del	p.TLRET460del	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	13	1935_1946	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					Q8N4M8|Q8N658	In_Frame_Del	DEL	ENST00000263265.6	37	c.1380_1391delCTTAAGAGAGAC	CCDS12737.1																																																																																				0.566	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			22	464						22	464	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-	rs375310385		TCGA-FZ-5919-01A-11D-1609-08	TCGA-FZ-5919-11A-02D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82303e3b-eeef-43ac-8d4a-85794482fd12	157c9dc6-2898-426a-b99e-03583bbff508	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gtfs		plexin A3				47,59,3613		1,0,29,16,2,35,20,1525,499	34.0	32.0	33.0			0.6	0.0	X		33	69,109,6290		1,0,27,40,3,50,53,2275,1663	no	codingComplex	PLXNA3	NM_017514.3		2,0,56,56,5,85,73,3800,2162	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.752,2.8502,2.7879			153688565	116,168,9903	2202	4292	6494	SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688565delG	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.42delG	X.37:g.153688565delG	ENSP00000358696:p.Val14fs						p.V14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	c.42delG	CCDS14752.1																																																																																				0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	689						8	689	---	---	---	---
