#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
TACC2	10579	broad.mit.edu	37	10	123970864	123970864	+	Silent	SNP	C	C	A	rs116727041		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:123970864C>A	ENST00000369005.1	+	9	7264	c.6924C>A	c.(6922-6924)ccC>ccA	p.P2308P	TACC2_ENST00000369001.1_Silent_p.P12P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000358010.1_Silent_p.P454P|TACC2_ENST00000260733.3_Silent_p.P386P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000515273.1_Silent_p.P2312P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2308					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAAGACACCCGAGAAACTTG	0.488																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6922-6924)ccC>ccA		transforming, acidic coiled-coil containing protein 2							109.0	110.0	110.0					10																	123970864		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970864C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6924C>A	10.37:g.123970864C>A						TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000358010.1_Silent_p.P454P|TACC2_ENST00000369001.1_Silent_p.P12P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000515273.1_Silent_p.P2312P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000260733.3_Silent_p.P386P	p.P2308P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7264	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2308					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.6924C>A	CCDS7626.1																																																																																				0.488	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			30	92	1	0	3.80469e-20	1	4.15058e-20	30	92				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	49	0	0	0	1	0	3	49				
MEFV	4210	broad.mit.edu	37	16	3293277	3293277	+	Missense_Mutation	SNP	C	C	A	rs139092123		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr16:3293277C>A	ENST00000219596.1	-	10	2249	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	MEFV_ENST00000536379.1_Missense_Mutation_p.R526I|MEFV_ENST00000339854.4_Missense_Mutation_p.R557I|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	737	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GATGTGGGATCTGGCTGTCAC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18876	0.0		0.0	False		,,,				2504	0.0					ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(2209-2211)aGa>aTa		Mediterranean fever	Colchicine(DB01394)						112.0	105.0	108.0					16																	3293277		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293277C>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2210G>T	16.37:g.3293277C>A	ENSP00000219596:p.Arg737Ile					MEFV_ENST00000339854.4_Missense_Mutation_p.R557I|MEFV_ENST00000536379.1_Missense_Mutation_p.R526I|MEFV_ENST00000541159.1_3'UTR	p.R737I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	2249	-			737			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.2210G>T	CCDS10498.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.35	1.614053	0.28712	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.69435	-0.4;-0.4;-0.4	5.23	2.79	0.32731	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.246708	0.28612	N	0.014738	T	0.64068	0.2565	L	0.44542	1.39	0.09310	N	1	D	0.56968	0.978	P	0.56398	0.797	T	0.54860	-0.8230	10	0.54805	T	0.06	-13.8188	2.8979	0.05696	0.2583:0.4849:0.0:0.2568	.	737	O15553	MEFV_HUMAN	I	737;557;526	ENSP00000219596:R737I;ENSP00000339639:R557I;ENSP00000445079:R526I	ENSP00000219596:R737I	R	-	2	0	MEFV	3233278	0.000000	0.05858	0.679000	0.29978	0.193000	0.23685	-0.023000	0.12456	1.106000	0.41623	0.650000	0.86243	AGA		0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	88	1	0	2.56e-06	1	2.71059e-06	4	88				
FAM86DP	692099	broad.mit.edu	37	3	75476706	75476706	+	RNA	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:75476706C>T	ENST00000459803.1	-	0	650					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TAATGAGAGGCCATTGAGAAG	0.602																																						ENST00000459803.1																			0																																																			692099							g.chr3:75476706C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476706C>T								NR_024241.1						0	650	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.602	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		7	56	0	0	0	1	0	7	56				
MMRN1	22915	broad.mit.edu	37	4	90816482	90816482	+	Silent	SNP	C	C	T	rs142099842		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:90816482C>T	ENST00000394980.1	+	2	679	c.360C>T	c.(358-360)aaC>aaT	p.N120N	MMRN1_ENST00000394981.1_Silent_p.N86N|MMRN1_ENST00000264790.2_Silent_p.N120N			Q13201	MMRN1_HUMAN	multimerin 1	120					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCCAACCAACGCTAGCATCA	0.438																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(358-360)aaC>aaT		multimerin 1		C		1,4405	2.1+/-5.4	0,1,2202	127.0	122.0	124.0		360	-4.2	0.0	4	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MMRN1	NM_007351.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		120/1229	90816482	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816482C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.360C>T	4.37:g.90816482C>T						MMRN1_ENST00000394981.1_Silent_p.N86N|MMRN1_ENST00000264790.2_Silent_p.N120N	p.N120N			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	679	+		Hepatocellular(203;0.114)	120					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.360C>T	CCDS3635.1																																																																																				0.438	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		16	65	0	0	0	1	0	16	65				
IGKV1-5	28299	broad.mit.edu	37	2	89246997	89246997	+	RNA	SNP	T	T	C	rs539369147		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:89246997T>C	ENST00000496168.1	-	0	353							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						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)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTTCTGCTGATACCAGGCCAA	0.532																																						ENST00000496168.1																			0																				121.0	115.0	117.0					2																	89246997		1928	4117	6045			28299							g.chr2:89246997T>C	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89246997T>C														0	353	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.532	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		5	157	0	0	0	1	0	5	157				
KDM6B	23135	broad.mit.edu	37	17	7756355	7756355	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr17:7756355C>G	ENST00000448097.2	+	21	4979	c.4648C>G	c.(4648-4650)Caa>Gaa	p.Q1550E	TMEM88_ENST00000301599.6_5'Flank|KDM6B_ENST00000254846.5_Missense_Mutation_p.Q1550E|TMEM88_ENST00000574668.1_5'Flank			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1550					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGCCAGGTGCAACGCGAGAG	0.627																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(4648-4650)Caa>Gaa		lysine (K)-specific demethylase 6B							91.0	80.0	84.0					17																	7756355		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7756355C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4648C>G	17.37:g.7756355C>G	ENSP00000412513:p.Gln1550Glu					KDM6B_ENST00000448097.2_Missense_Mutation_p.Q1550E	p.Q1550E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			21	5037	+			1550					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.4648C>G		.	.	.	.	.	.	.	.	.	.	C	13.67	2.307829	0.40795	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.28666	1.6;1.6	5.28	5.28	0.74379	.	0.073162	0.56097	D	0.000032	T	0.37945	0.1022	L	0.29908	0.895	0.51767	D	0.999939	P;D	0.57257	0.528;0.979	B;P	0.53593	0.355;0.73	T	0.18116	-1.0347	10	0.72032	D	0.01	-12.2212	18.0612	0.89378	0.0:1.0:0.0:0.0	.	1550;1550	O15054;O15054-1	KDM6B_HUMAN;.	E	1550	ENSP00000254846:Q1550E;ENSP00000412513:Q1550E	ENSP00000254846:Q1550E	Q	+	1	0	KDM6B	7697080	0.983000	0.35010	0.954000	0.39281	0.106000	0.19336	7.326000	0.79133	2.643000	0.89663	0.462000	0.41574	CAA		0.627	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	27	0	0	0	1	0	4	27				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			414212							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	27	0	0	0	1	0	4	27				
MYPN	84665	broad.mit.edu	37	10	69882049	69882049	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:69882049G>A	ENST00000358913.5	+	2	1342	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	285	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAAGGAACTCGAGTACAGTTG	0.468																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(853-855)cGa>cAa		myopalladin							68.0	72.0	71.0					10																	69882049		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69882049G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.854G>A	10.37:g.69882049G>A	ENSP00000351790:p.Arg285Gln					MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q	p.R285Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	1342	+			285			Ig-like 1.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.854G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026773	0.75390	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.66815	-0.23;-0.23;-0.23	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059185	0.64402	D	0.000002	T	0.46249	0.1383	N	0.11131	0.1	0.37068	D	0.898401	D;D	0.57899	0.981;0.958	P;B	0.44696	0.458;0.353	T	0.51244	-0.8730	9	.	.	.	.	7.5708	0.27907	0.1947:0.0:0.8053:0.0	.	285;285	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	Q	285	ENSP00000351790:R285Q;ENSP00000441668:R285Q;ENSP00000362779:R285Q	.	R	+	2	0	MYPN	69552055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.713000	0.68415	2.722000	0.93159	0.561000	0.74099	CGA		0.468	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		12	60	0	0	0	1	0	12	60				
CLASP2	23122	broad.mit.edu	37	3	33592821	33592821	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:33592821T>G	ENST00000468888.2	-	30	3146	c.3100A>C	c.(3100-3102)Aat>Cat	p.N1034H	CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H|CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000399362.4_Missense_Mutation_p.N1033H|CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	814	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCACTGGAATTTATAAAATCT	0.408																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3097-3099)Aat>Cat		cytoplasmic linker associated protein 2							82.0	80.0	80.0					3																	33592821		1836	4078	5914	SO:0001583	missense	23122							g.chr3:33592821T>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3100A>C	3.37:g.33592821T>G	ENSP00000419974:p.Asn1034His					CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H|CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1034H|CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H	p.N1033H	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			30	3450	-			1035					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3097A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.515860|4.515860	0.85495|0.85495	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000480385|ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	.|T;T;T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79227|0.79227	0.4410|0.4410	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.76494	.|0.911;0.999;0.784	.|B;D;P	.|0.83275	.|0.288;0.996;0.465	T|T	0.81302|0.81302	-0.0994|-0.0994	5|10	.|0.72032	.|D	.|0.01	-25.2129|-25.2129	14.0437|14.0437	0.64693|0.64693	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|814;1025;1033	.|O75122;F5H604;E7ERI8	.|CLAP2_HUMAN;.;.	T|H	89|1034;1033;1025;515;803;813;793	.|ENSP00000419974:N1034H;ENSP00000382297:N1033H;ENSP00000352581:N1025H;ENSP00000304743:N515H;ENSP00000439039:N803H;ENSP00000417518:N813H;ENSP00000419305:N793H	.|ENSP00000304743:N515H	K|N	-|-	2|1	0|0	CLASP2|CLASP2	33567825|33567825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.993000|7.993000	0.88291|0.88291	2.106000|2.106000	0.64143|0.64143	0.482000|0.482000	0.46254|0.46254	AAA|AAT		0.408	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		21	58	0	0	0	1	0	21	58				
RCOR1	23186	broad.mit.edu	37	14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr14:103174910C>T	ENST00000570597.1	+	6	760	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	RCOR1_ENST00000262241.6_Missense_Mutation_p.R257W			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(769-771)Cgg>Tgg		REST corepressor 1							102.0	109.0	106.0					14																	103174910		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174910C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.760C>T	14.37:g.103174910C>T	ENSP00000459789:p.Arg254Trp					RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	p.R257W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	995	+			254					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.769C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.247023	0.80024	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	4.99	0.66335	.	0.127305	0.56097	D	0.000037	T	0.56426	0.1984	L	0.59436	1.845	0.58432	D	0.999998	B	0.26809	0.16	B	0.18871	0.023	T	0.58340	-0.7653	9	0.72032	D	0.01	-18.6863	10.7992	0.46478	0.1306:0.8017:0.0:0.0677	.	254	Q9UKL0	RCOR1_HUMAN	W	254	.	ENSP00000262241:R254W	R	+	1	2	RCOR1	102244663	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.521000	0.35910	1.487000	0.48415	0.655000	0.94253	CGG		0.468	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		6	205	0	0	0	1	0	6	205				
IGHV3-38	28429	broad.mit.edu	37	14	106866492	106866492	+	RNA	SNP	A	A	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr14:106866492A>T	ENST00000390618.2	-	0	339									immunoglobulin heavy variable 3-38 (non-functional)																		TTGTCTCTGGAGATGGTGAAT	0.532																																						ENST00000390618.2																			0																				203.0	163.0	176.0					14																	106866492		2197	4296	6493			28429							g.chr14:106866492A>T	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866492A>T														0	339	-									RNA	SNP	ENST00000390618.2	37																																																																																						0.532	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		8	221	0	0	0	1	0	8	221				
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(208-210)gCc>gTc		mitochondrial ribosomal protein L24							211.0	194.0	200.0					1																	156708205		2203	4300	6503	SO:0001583	missense	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708205G>A	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.209C>T	1.37:g.156708205G>A	ENSP00000354525:p.Ala70Val					MRPL24_ENST00000361531.2_Missense_Mutation_p.A70V	p.A70V	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			3	347	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		70			KOW.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.209C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458233	0.63401	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	4.6	0.57074	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.109682	0.64402	D	0.000007	T	0.40322	0.1112	M	0.67397	2.05	0.41365	D	0.987454	P	0.39352	0.669	B	0.31016	0.123	T	0.55866	-0.8073	9	0.72032	D	0.01	-17.5247	12.9383	0.58327	0.0:0.0:0.8372:0.1628	.	70	Q96A35	RM24_HUMAN	V	70	.	ENSP00000354525:A70V	A	-	2	0	MRPL24	154974829	0.996000	0.38824	0.984000	0.44739	0.912000	0.54170	2.423000	0.44705	2.633000	0.89246	0.650000	0.86243	GCC		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		4	179	0	0	0	1	0	4	179				
TNR	7143	broad.mit.edu	37	1	175365905	175365905	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:175365905C>T	ENST00000367674.2	-	5	1723	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TNR_ENST00000263525.2_Missense_Mutation_p.D339N			Q92752	TENR_HUMAN	tenascin R	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGGACCTGTCGCTGATACCA	0.602																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1015-1017)Gac>Aac		tenascin R							72.0	77.0	75.0					1																	175365905		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365905C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1015G>A	1.37:g.175365905C>T	ENSP00000356646:p.Asp339Asn					TNR_ENST00000263525.2_Missense_Mutation_p.D339N	p.D339N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1723	-	Renal(580;0.146)		339			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1015G>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.637776|4.637776	0.87760|0.87760	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.73575|.	-0.76;-0.76|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.053036|.	0.64402|.	D|.	0.000001|.	T|T	0.69151|0.69151	0.3079|0.3079	L|L	0.45422|0.45422	1.42|1.42	0.51767|0.51767	D|D	0.999932|0.999932	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.62859|0.62859	-0.6765|-0.6765	10|5	0.35671|.	T|.	0.21|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	339|.	Q92752|.	TENR_HUMAN|.	N|Q	339|63	ENSP00000356646:D339N;ENSP00000263525:D339N|.	ENSP00000263525:D339N|.	D|R	-|-	1|2	0|0	TNR|TNR	173632528|173632528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.636000|3.636000	0.54317|0.54317	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		5	172	0	0	0	1	0	5	172				
SORBS2	8470	broad.mit.edu	37	4	186544307	186544307	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:186544307C>T	ENST00000284776.7	-	13	2773	c.2264G>A	c.(2263-2265)aGc>aAc	p.S755N	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.S755N|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	755					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)		GTGCAGGATGCTGTTGTCCGG	0.537																																					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.(2263-2265)aGc>aAc		sorbin and SH3 domain containing 2							135.0	155.0	149.0					4																	186544307		2203	4300	6503	SO:0001583	missense	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.chr4:186544307C>T		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.2264G>A	4.37:g.186544307C>T	ENSP00000284776:p.Ser755Asn					SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S755N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.S755N			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	2827	-		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)	755					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2264G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508816	0.64410	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.53206	0.72;0.72;0.63;0.66	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.61703	1.905	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.994	D;D;D	0.72338	0.977;0.968;0.977	T	0.68800	-0.5313	10	0.72032	D	0.01	-19.6314	19.982	0.97329	0.0:1.0:0.0:0.0	.	659;855;755	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	N	755;755;659;855	ENSP00000284776:S755N;ENSP00000411764:S755N;ENSP00000397482:S659N;ENSP00000347852:S855N	ENSP00000284776:S755N	S	-	2	0	SORBS2	186781301	1.000000	0.71417	0.991000	0.47740	0.274000	0.26718	7.818000	0.86416	2.737000	0.93849	0.561000	0.74099	AGC		0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	229	0	0	0	1	0	4	229				
RAB22A	57403	broad.mit.edu	37	20	56918775	56918775	+	Splice_Site	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr20:56918775G>A	ENST00000244040.3	+	3	399	c.118G>A	c.(118-120)Gca>Aca	p.A40T	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	40					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTTTATAGGGCATCTTTTAT	0.403																																						ENST00000244040.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6						c.e3-1		RAB22A, member RAS oncogene family							98.0	92.0	94.0					20																	56918775		2203	4300	6503	SO:0001630	splice_region_variant	57403				endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr20:56918775G>A	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.117-1G>A	20.37:g.56918775G>A						RAB22A_ENST00000488949.1_3'UTR	p.A40_splice	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)		3	399	+	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		40					B3KR86|E1P605|Q8TF12|Q9H4E6	Splice_Site	SNP	ENST00000244040.3	37	c.116_splice	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761801	0.96906	.	.	ENSG00000124209	ENST00000244040	T	0.80033	-1.33	6.07	6.07	0.98685	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.90751	0.4657	10	0.87932	D	0	-25.3465	20.6439	0.99570	0.0:0.0:1.0:0.0	.	40	Q9UL26	RB22A_HUMAN	T	40	ENSP00000244040:A40T	ENSP00000244040:A40T	A	+	1	0	RAB22A	56352181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.102000	0.94226	2.890000	0.99128	0.650000	0.86243	GCA		0.403	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2		Missense_Mutation	3	50	0	0	0	1	0	3	50				
CPZ	8532	broad.mit.edu	37	4	8605723	8605723	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:8605723G>A	ENST00000360986.4	+	4	691	c.517G>A	c.(517-519)Gca>Aca	p.A173T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.A36T|CPZ_ENST00000315782.6_Missense_Mutation_p.A162T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	173					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCTGACGAGGCACTGCCCTC	0.687																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(106-108)Gca>Aca		carboxypeptidase Z							28.0	24.0	25.0					4																	8605723		2167	4251	6418	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605723G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.517G>A	4.37:g.8605723G>A	ENSP00000354255:p.Ala173Thr					CPZ_ENST00000360986.4_Missense_Mutation_p.A173T|CPZ_ENST00000315782.6_Missense_Mutation_p.A162T|CPZ_ENST00000429646.2_5'UTR	p.A36T	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			4	906	+			173			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.106G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560268	0.13498	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.58506	0.65;2.04;0.33	3.86	2.96	0.34315	.	1.277740	0.05772	U	0.606843	T	0.51719	0.1691	L	0.47716	1.5	0.58432	D	0.999998	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.18116	-1.0347	10	0.12766	T	0.61	-6.7555	12.0209	0.53342	0.0:0.1764:0.8236:0.0	.	162;173	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	173;36;162	ENSP00000354255:A173T;ENSP00000371920:A36T;ENSP00000315074:A162T	ENSP00000315074:A162T	A	+	1	0	CPZ	8656623	0.632000	0.27172	0.403000	0.26384	0.123000	0.20343	2.300000	0.43620	0.749000	0.32854	0.555000	0.69702	GCA		0.687	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		3	39	0	0	0	1	0	3	39				
ROCK2	9475	broad.mit.edu	37	2	11333967	11333967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:11333967G>A	ENST00000315872.6	-	30	4073	c.3625C>T	c.(3625-3627)Cga>Tga	p.R1209*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAACTGGTCGGACATGAAAT	0.299																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3625-3627)Cga>Tga		Rho-associated, coiled-coil containing protein kinase 2							77.0	70.0	72.0					2																	11333967		1801	4072	5873	SO:0001587	stop_gained	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11333967G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3625C>T	2.37:g.11333967G>A	ENSP00000317985:p.Arg1209*					ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966*	p.R1209*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	30	4073	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1209			PH.		Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	ENST00000315872.6	37	c.3625C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	46	12.229000	0.99648	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	.	.	.	5.88	5.88	0.94601	.	0.117701	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	.	.	.	X	1209;966;567	.	ENSP00000317985:R1209X	R	-	1	2	ROCK2	11251418	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.509000	0.60448	2.789000	0.95967	0.591000	0.81541	CGA		0.299	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	67	0	0	0	1	0	7	67				
USP19	10869	broad.mit.edu	37	3	49151652	49151652	+	Silent	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:49151652G>A	ENST00000398888.2	-	15	2367	c.2049C>T	c.(2047-2049)ctC>ctT	p.L683L	USP19_ENST00000417901.1_Silent_p.L786L|USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Silent_p.L784L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L|USP19_ENST00000453664.1_Silent_p.L774L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	683	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAAAGACAGGGAGAACCTTTT	0.547																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2320-2322)ctC>ctT		ubiquitin specific peptidase 19							119.0	123.0	122.0					3																	49151652		1940	4148	6088	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49151652G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2049C>T	3.37:g.49151652G>A						USP19_ENST00000398888.2_Silent_p.L683L|USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000434032.2_Silent_p.L784L|USP19_ENST00000417901.1_Silent_p.L786L	p.L774L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	2640	-			683					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.2322C>T	CCDS43090.1																																																																																				0.547	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		36	124	0	0	0	1	0	36	124				
ST6GAL2	84620	broad.mit.edu	37	2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:107460204C>T	ENST00000409382.3	-	2	840	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	77					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(229-231)cGc>cAc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							17.0	22.0	20.0					2																	107460204		2144	4211	6355	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460204C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.230G>A	2.37:g.107460204C>T	ENSP00000386942:p.Arg77His					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H	p.R77H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	840	-			77					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.230G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896345	0.33442	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32515	2.46;2.46;1.45	5.18	-4.98	0.03019	.	1.558860	0.03596	N	0.232558	T	0.13756	0.0333	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.26985	-1.0087	10	0.41790	T	0.15	-0.4606	8.5868	0.33664	0.0:0.4994:0.1257:0.3749	.	77;77	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	77	ENSP00000355273:R77H;ENSP00000386942:R77H;ENSP00000387332:R77H	ENSP00000355273:R77H	R	-	2	0	ST6GAL2	106826636	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.727000	0.25999	-1.007000	0.03408	-0.793000	0.03317	CGC		0.677	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		14	53	0	0	0	1	0	14	53				
SPINK5	11005	broad.mit.edu	37	5	147504400	147504400	+	Splice_Site	SNP	G	G	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr5:147504400G>T	ENST00000256084.7	+	28	2781	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SPINK5_ENST00000398454.1_Missense_Mutation_p.K913N|SPINK5_ENST00000359874.3_Splice_Site_p.K913N	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	913	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGCAAAGGTTATTTATT	0.284																																						ENST00000398454.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(2737-2739)aaG>aaT		serine peptidase inhibitor, Kazal type 5							60.0	58.0	59.0					5																	147504400		1799	4057	5856	SO:0001630	splice_region_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147504400G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2739+1G>T	5.37:g.147504400G>T						SPINK5_ENST00000359874.3_Splice_Site_p.K913_splice|SPINK5_ENST00000256084.7_Splice_Site_p.K913_splice	p.K913N	NM_001127699.1	NP_001121171.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		28	2812	+			913			Kazal-like 14.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2739G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235071	0.39498	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000256084	T;T;T	0.51071	0.72;0.89;3.2	4.63	4.63	0.57726	.	1.100660	0.06883	N	0.802878	T	0.56543	0.1992	L	0.29908	0.895	0.33291	D	0.563529	D;D;B	0.71674	0.998;0.996;0.296	D;P;B	0.68353	0.957;0.889;0.259	T	0.45381	-0.9265	10	0.19590	T	0.45	-19.9648	13.2871	0.60249	0.0:0.0:1.0:0.0	.	913;913;913	Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;ISK5_HUMAN;.	N	913	ENSP00000381472:K913N;ENSP00000352936:K913N;ENSP00000256084:K913N	ENSP00000256084:K913N	K	+	3	2	SPINK5	147484593	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	3.779000	0.55379	2.860000	0.98153	0.655000	0.94253	AAG		0.284	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	Missense_Mutation	5	16	1	0	0.00116845	1	0.00116845	5	16				
TPK1	27010	broad.mit.edu	37	7	144462990	144462990	+	Missense_Mutation	SNP	C	C	T	rs77358162	byFrequency	TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr7:144462990C>T	ENST00000360057.3	-	3	200	c.98G>A	c.(97-99)cGt>cAt	p.R33H	TPK1_ENST00000378099.3_Missense_Mutation_p.R33H	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	33					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CCAAAGATGACGAAAATAGTT	0.328													C|||	9	0.00179712	0.0	0.0029	5008	,	,		18774	0.0		0.007	False		,,,				2504	0.0				Ovarian(45;88 1034 2073 5829 28455)	ENST00000360057.3																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(97-99)cGt>cAt		thiamin pyrophosphokinase 1	Thiamine(DB00152)	C	HIS/ARG,HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	100.0	112.0	108.0		98,98	1.1	0.9	7	dbSNP_133	108	74,8522	44.0+/-102.2	0,74,4224	yes	missense,missense	TPK1	NM_001042482.1,NM_022445.3	29,29	0,83,6418	TT,TC,CC		0.8609,0.2043,0.6384	benign,benign	33/195,33/244	144462990	83,12919	2203	4298	6501	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144462990C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.98G>A	7.37:g.144462990C>T	ENSP00000353165:p.Arg33His					TPK1_ENST00000378099.3_Missense_Mutation_p.R33H	p.R33H	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN			3	200	-			33					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.98G>A	CCDS5888.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	7.667	0.686196	0.14973	0.002043	0.008609	ENSG00000196511	ENST00000360057;ENST00000378099;ENST00000552881	D;D;D	0.83837	-1.77;-1.77;-1.77	4.97	1.1	0.20463	Thiamin pyrophosphokinase, catalytic domain (3);	0.320888	0.36854	N	0.002376	T	0.59142	0.2172	N	0.26162	0.8	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.04013	0.001;0.001	T	0.52320	-0.8591	10	0.40728	T	0.16	-9.6196	3.4534	0.07506	0.1787:0.5391:0.0:0.2822	.	33;33	F5GZG6;Q9H3S4	.;TPK1_HUMAN	H	33	ENSP00000353165:R33H;ENSP00000367339:R33H;ENSP00000448655:R33H	ENSP00000353165:R33H	R	-	2	0	TPK1	144093923	0.935000	0.31712	0.926000	0.36857	0.990000	0.78478	0.410000	0.21098	0.363000	0.24346	0.655000	0.94253	CGT		0.328	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		15	72	0	0	0	1	0	15	72				
BMS1P20	96610	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1				BMS1 pseudogene 20																		CTGAATCATGCAGAATTTGAA	0.408																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661208C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661208C>T								NR_027293.1						0	300	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	59	0	0	0	1	0	4	59				
MUC5AC	4586	broad.mit.edu	37	11	1155162	1155162	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr11:1155162C>T	ENST00000356191.2	+	3	170	c.170C>T	c.(169-171)gCg>gTg	p.A57V				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	57					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCCGTGGGGCGACTGTCTTC	0.672																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(169-171)gCg>gTg		mucin 5AC, oligomeric mucus/gel-forming							26.0	28.0	28.0					11																	1155162		875	1990	2865	SO:0001583	missense	4586							g.chr11:1155162C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.170C>T	11.37:g.1155162C>T	ENSP00000348519:p.Ala57Val						p.A57V						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	3	170	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.170C>T		.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167059	0.01660	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.18174	2.23;2.53	3.46	1.06	0.20224	.	.	.	.	.	T	0.03477	0.0100	N	0.00633	-1.31	.	.	.	B	0.10296	0.003	B	0.01281	0.0	T	0.44283	-0.9338	8	0.02654	T	1	.	5.7801	0.18301	0.0:0.2362:0.0:0.7638	.	57	A7Y9J9	.	V	57	ENSP00000435591:A57V;ENSP00000348519:A57V	ENSP00000348519:A57V	A	+	2	0	MUC5AC	1145162	0.944000	0.32072	0.030000	0.17652	0.024000	0.10985	0.657000	0.24963	0.105000	0.17753	-0.915000	0.02750	GCG		0.672	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		3	23	0	0	0	1	0	3	23				
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr11:64056826C>T	ENST00000313074.3	+	7	1348	c.1243C>T	c.(1243-1245)Ccg>Tcg	p.P415S	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000411458.1_Missense_Mutation_p.P473S|KCNK4_ENST00000422670.2_5'Flank|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000377702.4_3'UTR	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647																																						ENST00000411458.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(1417-1419)Ccg>Tcg		G protein-coupled receptor 137							61.0	61.0	61.0					11																	64056826		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64056826C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1243C>T	11.37:g.64056826C>T	ENSP00000321698:p.Pro415Ser					GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000438980.2_3'UTR	p.P473S	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN			9	1445	+			415					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.1417C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055330	0.19907	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.51574	0.7;0.85	5.27	3.38	0.38709	.	1.323320	0.05536	N	0.564845	T	0.30293	0.0760	N	0.08118	0	0.58432	D	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.06991	-1.0796	10	0.49607	T	0.09	-0.0272	7.3883	0.26895	0.0:0.7394:0.1696:0.091	.	473;415	B4DTG7;Q96N19	.;G137A_HUMAN	S	473;415	ENSP00000411827:P473S;ENSP00000321698:P415S	ENSP00000321698:P415S	P	+	1	0	GPR137	63813402	0.698000	0.27777	0.584000	0.28653	0.551000	0.35334	1.531000	0.36018	0.718000	0.32166	0.561000	0.74099	CCG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		4	86	0	0	0	1	0	4	86				
WDR62	284403	broad.mit.edu	37	19	36585023	36585023	+	Silent	SNP	A	A	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr19:36585023A>T	ENST00000270301.7	+	20	2424	c.2424A>T	c.(2422-2424)ccA>ccT	p.P808P	WDR62_ENST00000401500.2_Silent_p.P808P			O43379	WDR62_HUMAN	WD repeat domain 62	808					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTGTGAGCCAGAAGAGATGC	0.488																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2422-2424)ccA>ccT		WD repeat domain 62							142.0	134.0	137.0					19																	36585023		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36585023A>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2424A>T	19.37:g.36585023A>T						WDR62_ENST00000270301.7_Silent_p.P808P	p.P808P	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		20	2459	+	Esophageal squamous(110;0.162)		808					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.2424A>T	CCDS33001.1																																																																																				0.488	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	75	0	0	0	1	0	8	75				
BMS1P20	96610	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1				BMS1 pseudogene 20																		AGCTGAATCATGCAGAATTTG	0.408																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661206T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661206T>C								NR_027293.1						0	298	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	57	0	0	0	1	0	4	57				
TCF7L2	6934	broad.mit.edu	37	10	114910867	114910867	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:114910867G>A	ENST00000355995.4	+	9	1493	c.986G>A	c.(985-987)gGc>gAc	p.G329D	TCF7L2_ENST00000369397.4_Missense_Mutation_p.G306D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D|TCF7L2_ENST00000545257.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	329	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGTGATGTCGGCTCACTCCAT	0.532			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(985-987)gGc>gAc		transcription factor 7-like 2 (T-cell specific, HMG-box)							280.0	216.0	238.0					10																	114910867		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114910867G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.986G>A	10.37:g.114910867G>A	ENSP00000348274:p.Gly329Asp					TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369397.4_Missense_Mutation_p.G306D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000355995.4_Missense_Mutation_p.G329D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D	p.G329D			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	9	1493	+		Breast(234;0.058)|Colorectal(252;0.0615)	329			Mediates interaction with MAD2L2.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	g	10.99	1.506218	0.26949	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945	D;D;D;D;D;D;D;D;D;D;D;D	0.99201	-4.94;-4.95;-4.95;-4.97;-5.51;-5.52;-5.51;-4.95;-5.51;-4.96;-5.55;-5.52	5.17	4.23	0.50019	.	0.097331	0.64402	D	0.000001	D	0.96112	0.8733	N	0.05124	-0.11	0.58432	D	0.999995	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29136	0.0;0.0;0.0;0.0;0.0;0.075;0.001;0.0;0.0;0.0;0.0;0.001;0.0;0.072;0.234;0.002;0.018;0.002;0.047	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.40825	0.001;0.001;0.001;0.001;0.001;0.028;0.004;0.001;0.001;0.001;0.0;0.002;0.002;0.031;0.341;0.002;0.06;0.005;0.04	D	0.94523	0.7729	10	0.09084	T	0.74	0.213	15.7386	0.77866	0.0:0.1362:0.8638:0.0	.	186;146;228;329;200;244;302;306;306;272;329;306;306;311;353;306;329;302;306	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	329;329;329;329;353;329;329;306;306;45;40;46	ENSP00000348274:G329D;ENSP00000440547:G329D;ENSP00000444972:G329D;ENSP00000446238:G329D;ENSP00000347949:G353D;ENSP00000446172:G329D;ENSP00000443626:G329D;ENSP00000358404:G306D;ENSP00000344823:G306D;ENSP00000443883:G45D;ENSP00000358396:G40D;ENSP00000277945:G46D	ENSP00000277945:G46D	G	+	2	0	TCF7L2	114900857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.542000	0.67218	2.413000	0.81919	0.655000	0.94253	GGC		0.532	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		4	105	0	0	0	1	0	4	105				
PADI3	51702	broad.mit.edu	37	1	17597607	17597607	+	Silent	SNP	C	C	T			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:17597607C>T	ENST00000375460.3	+	9	1021	c.981C>T	c.(979-981)gcC>gcT	p.A327A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	327					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGAGCTGGCCAGGAAGGCCG	0.647																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(979-981)gcC>gcT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						59.0	56.0	57.0					1																	17597607		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17597607C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.981C>T	1.37:g.17597607C>T							p.A327A	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	9	1021	+		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)	327					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.981C>T	CCDS179.1																																																																																				0.647	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			5	35	0	0	0	1	0	5	35				
MEG3	55384	broad.mit.edu	37	14	101311732	101311734	+	RNA	DEL	CCT	CCT	-	rs398057451|rs139003317|rs61149909	byFrequency	TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr14:101311732_101311734delCCT	ENST00000554041.1	-	0	143																											CCTCATCCGCCCTCCTCCTCCTC	0.606														1311	0.261781	0.6059	0.1729	5008	,	,		14712	0.001		0.2097	False		,,,				2504	0.182					ENST00000554041.1																			0																																																			55384							g.chr14:101311732_101311734delCCT																													14.37:g.101311741_101311743delCCT														0	143	-									RNA	DEL	ENST00000554041.1	37																																																																																						0.606	RP11-123M6.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000414687.1			2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			4	4						4	4	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		2	4						2	4	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	168						7	168	---	---	---	---
