#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
LIN28B	389421	broad.mit.edu	37	6	105406094	105406094	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:105406094G>T	ENST00000345080.4	+	2	334	c.131G>T	c.(130-132)gGa>gTa	p.G44V		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	44	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGGGATTTGGATTCATCTCC	0.517																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(130-132)gGa>gTa		lin-28 homolog B (C. elegans)							96.0	100.0	99.0					6																	105406094		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406094G>T	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.131G>T	6.37:g.105406094G>T	ENSP00000344401:p.Gly44Val						p.G44V	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			2	334	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	44			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.131G>T	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412528	0.83340	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93172	0.6567	9	0.87932	D	0	-14.9825	20.0044	0.97430	0.0:0.0:1.0:0.0	.	21;44	A7E2T3;Q6ZN17	.;LN28B_HUMAN	V	44	.	ENSP00000344401:G44V	G	+	2	0	LIN28B	105512787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GGA		0.517	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		19	114	1	0	4.96729e-08	1	5.37278e-08	19	114				
DUXAP8	503637	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs8137415		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393																																						ENST00000447898.1																			0																																																			0							g.chr22:16151010T>C																													22.37:g.16151010T>C														0	1104	-									RNA	SNP	ENST00000447898.1	37																																																																																						0.393	AP000525.9-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000276780.1			4	19	0	0	0	1	0	4	19				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	37	0	0	0	1	0	4	37				
VSTM2A	222008	broad.mit.edu	37	7	54617801	54617801	+	Missense_Mutation	SNP	G	G	A	rs200451254		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:54617801G>A	ENST00000407838.3	+	4	978	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000302287.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	191						extracellular region (GO:0005576)		p.R190Q(2)|p.R191Q(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACCAACGAACGCACTCC	0.547																																						ENST00000302287.3																			3	Substitution - Missense(3)	p.R190Q(2)|p.R191Q(1)	large_intestine(2)|breast(1)	endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(571-573)cGa>cAa		V-set and transmembrane domain containing 2A							64.0	52.0	56.0					7																	54617801		2203	4300	6503	SO:0001583	missense	222008					extracellular region		g.chr7:54617801G>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.572G>A	7.37:g.54617801G>A	ENSP00000384967:p.Arg191Gln					VSTM2A_ENST00000407838.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q	p.R191Q			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	978	+			191					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.572G>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	4.326	0.059829	0.08339	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.49720	0.8;0.8;0.77;0.8;0.78	5.06	-0.184	0.13280	.	0.424107	0.25261	N	0.031960	T	0.34135	0.0887	L	0.45581	1.43	0.22880	N	0.998611	B;B;B	0.16166	0.016;0.003;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.21075	-1.0256	10	0.22706	T	0.39	-1.6761	8.5239	0.33293	0.6007:0.0:0.3993:0.0	.	191;191;191	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	Q	191;191;191;190;191	ENSP00000303108:R191Q;ENSP00000384967:R191Q;ENSP00000384701:R191Q;ENSP00000385933:R190Q;ENSP00000384103:R191Q	ENSP00000303108:R191Q	R	+	2	0	VSTM2A	54585295	0.004000	0.15560	0.183000	0.23137	0.019000	0.09904	0.052000	0.14163	-0.022000	0.13986	-0.137000	0.14449	CGA		0.547	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		7	13	0	0	0	1	0	7	13				
FUT1	2523	broad.mit.edu	37	19	49253917	49253917	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:49253917C>T	ENST00000310160.3	-	4	1596	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	208					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGCGGTCCCCTGTGCGGCCC	0.667																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(622-624)Ggg>Agg		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							77.0	79.0	79.0					19																	49253917		2202	4298	6500	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253917C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.622G>A	19.37:g.49253917C>T	ENSP00000312021:p.Gly208Arg						p.G208R	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1596	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	208					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.622G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940045	0.34283	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.97620	-4.46	4.54	2.43	0.29744	.	0.392122	0.21603	N	0.071916	D	0.97542	0.9195	M	0.84326	2.69	0.09310	N	1	P	0.51653	0.947	P	0.58210	0.835	D	0.92789	0.6247	10	0.62326	D	0.03	-25.4518	8.9189	0.35599	0.0:0.811:0.0:0.189	.	208	P19526	FUT1_HUMAN	R	208;198	ENSP00000312021:G208R	ENSP00000312021:G208R	G	-	1	0	FUT1	53945729	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	0.417000	0.21214	1.299000	0.44798	-0.214000	0.12660	GGG		0.667	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		11	257	0	0	0	1	0	11	257				
C9orf156	51531	broad.mit.edu	37	9	100675695	100675695	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:100675695C>T	ENST00000375119.3	-	3	473	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	C9orf156_ENST00000478126.1_5'UTR|Y_RNA_ENST00000364960.1_RNA	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	133	TsaA-like. {ECO:0000255|PROSITE- ProRule:PRU01003}.				viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTACCTTTTCCAGCTTGGCC	0.433																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(397-399)Gaa>Aaa		chromosome 9 open reading frame 156							131.0	128.0	129.0					9																	100675695		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100675695C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.397G>A	9.37:g.100675695C>T	ENSP00000364260:p.Glu133Lys					C9orf156_ENST00000478126.1_5'UTR	p.E133K	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			3	473	-		Acute lymphoblastic leukemia(62;0.158)	133					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.397G>A	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961296	0.92791	.	.	ENSG00000136932	ENST00000375119;ENST00000375117;ENST00000455506	T;T;T	0.44083	0.93;0.93;0.93	5.76	5.76	0.90799	Uncharacterised domain UPF0066, YaeB-like domain (2);Uncharacterised domain UPF0066 (2);	0.340989	0.34435	N	0.003973	T	0.51143	0.1657	L	0.43701	1.375	0.80722	D	1	P	0.46578	0.88	P	0.54965	0.765	T	0.17471	-1.0368	10	0.23302	T	0.38	-3.6266	17.8217	0.88652	0.0:1.0:0.0:0.0	.	133	Q9BU70	NAP1_HUMAN	K	133;132;131	ENSP00000364260:E133K;ENSP00000364258:E132K;ENSP00000408473:E131K	ENSP00000364258:E132K	E	-	1	0	C9orf156	99715516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.361000	0.73070	2.890000	0.99128	0.655000	0.94253	GAA		0.433	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		27	62	0	0	0	1	0	27	62				
VGLL2	245806	broad.mit.edu	37	6	117593620	117593620	+	Missense_Mutation	SNP	G	G	A	rs143287461	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:117593620G>A	ENST00000326274.5	+	4	1107	c.917G>A	c.(916-918)cGt>cAt	p.R306H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R132H	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	306					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TTTGCAGCTCGTCGTTATTCC	0.537																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(916-918)cGt>cAt		vestigial like 2 (Drosophila)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	517.0	438.0	465.0		395,917	1.8	1.0	6	dbSNP_134	465	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VGLL2	NM_153453.1,NM_182645.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	132/144,306/318	117593620	1,13005	2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117593620G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.917G>A	6.37:g.117593620G>A	ENSP00000320957:p.Arg306His					VGLL2_ENST00000352536.3_Missense_Mutation_p.R132H	p.R306H	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	4	1107	+			306					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.917G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220769	0.39201	0.0	1.16E-4	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.48201	0.82	4.7	1.8	0.24995	.	0.461223	0.21522	N	0.073188	T	0.18087	0.0434	L	0.40543	1.245	0.49213	D	0.999761	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.05451	-1.0884	10	0.41790	T	0.15	-21.1313	7.2582	0.26189	0.1505:0.2659:0.5836:0.0	.	132;306	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	H	132;306	ENSP00000320957:R306H	ENSP00000320957:R306H	R	+	2	0	VGLL2	117700313	1.000000	0.71417	0.981000	0.43875	0.974000	0.67602	1.443000	0.35057	0.249000	0.21456	0.561000	0.74099	CGT		0.537	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		7	323	0	0	0	1	0	7	323				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	85	0	0	0	1	0	4	85				
DSG4	147409	broad.mit.edu	37	18	28986327	28986327	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr18:28986327C>T	ENST00000308128.4	+	12	2059	c.1924C>T	c.(1924-1926)Cta>Tta	p.L642L	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Silent_p.L642L|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	642					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGCATCCTGCTACTGATTTG	0.458																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1924-1926)Cta>Tta		desmoglein 4							83.0	82.0	83.0					18																	28986327		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986327C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1924C>T	18.37:g.28986327C>T						DSG4_ENST00000308128.4_Silent_p.L642L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.L642L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1953	+			642					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1924C>T	CCDS11897.1																																																																																				0.458	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		23	89	0	0	0	1	0	23	89				
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	27	0	0	0	1	0	5	27				
EVA1B	55194	broad.mit.edu	37	1	36788016	36788016	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:36788016C>T	ENST00000270824.1	-	3	669	c.378G>A	c.(376-378)gaG>gaA	p.E126E	RP11-268J15.5_ENST00000373137.2_5'Flank|SH3D21_ENST00000474766.1_3'UTR|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	126						integral component of membrane (GO:0016021)											GTTCGCGCTCCTCCAGCCGCT	0.746																																						ENST00000270824.1																			0											c.(376-378)gaG>gaA		eva-1 homolog B (C. elegans)							11.0	13.0	13.0					1																	36788016		2109	4147	6256	SO:0001819	synonymous_variant	55194							g.chr1:36788016C>T	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.378G>A	1.37:g.36788016C>T						EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.E126E	NM_018166.1	NP_060636.1					3	669	-								D3DPS7	Silent	SNP	ENST00000270824.1	37	c.378G>A	CCDS406.1																																																																																				0.746	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		6	20	0	0	0	1	0	6	20				
RIPK1	8737	broad.mit.edu	37	6	3113516	3113516	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:3113516C>T	ENST00000259808.4	+	11	2257	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L	RIPK1_ENST00000380409.2_Silent_p.L653L|RIPK1_ENST00000541791.1_Silent_p.L607L			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	653	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCAGGCGCTCCACCAGTGTT	0.547																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(1957-1959)ctC>ctT		receptor (TNFRSF)-interacting serine-threonine kinase 1							58.0	52.0	55.0					6																	3113516		2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3113516C>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1959C>T	6.37:g.3113516C>T						RIPK1_ENST00000380409.2_Silent_p.L653L|RIPK1_ENST00000541791.1_Silent_p.L607L	p.L653L			Q13546	RIPK1_HUMAN			11	2257	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	653			Death.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.1959C>T	CCDS4482.1																																																																																				0.547	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		5	47	0	0	0	1	0	5	47				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	35	0	0	0	1	0	4	35				
LOC101927905	101927905	broad.mit.edu	37	12	8391338	8391338	+	lincRNA	SNP	T	T	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:8391338T>C	ENST00000304751.9	+	0	591				FAM86FP_ENST00000427893.2_RNA														p.K53R(1)									CACAGGATGCTTCACAGTCTA	0.527																																						ENST00000304751.9																			1	Substitution - Missense(1)	p.K53R(1)	urinary_tract(1)																																																0							g.chr12:8391338T>C																													12.37:g.8391338T>C						FAM86FP_ENST00000427893.2_RNA								0	591	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.527	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			3	66	0	0	0	1	0	3	66				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	37	0	0	0	1	0	4	37				
PKDREJ	10343	broad.mit.edu	37	22	46653656	46653656	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:46653656C>G	ENST00000253255.5	-	1	5563	c.5564G>C	c.(5563-5565)gGa>gCa	p.G1855A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1855					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAAGTAAATCCATTGGTACT	0.388																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(5563-5565)gGa>gCa		polycystin (PKD) family receptor for egg jelly							131.0	134.0	133.0					22																	46653656		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653656C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5564G>C	22.37:g.46653656C>G	ENSP00000253255:p.Gly1855Ala						p.G1855A	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5563	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1855					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5564G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951947	0.53293	.	.	ENSG00000130943	ENST00000253255	T	0.68331	-0.32	5.04	5.04	0.67666	Polycystin cation channel, PKD1/PKD2 (1);	0.357875	0.23291	N	0.049787	T	0.75693	0.3884	M	0.70595	2.14	0.28424	N	0.917583	D	0.67145	0.996	D	0.66351	0.943	T	0.68450	-0.5405	10	0.02654	T	1	-33.3215	15.4791	0.75511	0.0:1.0:0.0:0.0	.	1855	Q9NTG1	PKDRE_HUMAN	A	1855	ENSP00000253255:G1855A	ENSP00000253255:G1855A	G	-	2	0	PKDREJ	45032320	0.976000	0.34144	0.498000	0.27564	0.052000	0.14988	3.352000	0.52239	2.515000	0.84797	0.455000	0.32223	GGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		31	121	0	0	0	1	0	31	121				
IFFO1	25900	broad.mit.edu	37	12	6657960	6657960	+	Missense_Mutation	SNP	C	C	T	rs149041603		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:6657960C>T	ENST00000396840.2	-	5	1144	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R371H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R371H|IFFO1_ENST00000436152.2_Missense_Mutation_p.R64H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R64H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	368						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCAGCCTTGCGCTCCCGCTT	0.657																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(190-192)cGc>cAc		intermediate filament family orphan 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	27.0	28.0		1112,1136,1112	3.3	1.0	12	dbSNP_134	28	0,8600		0,0,4300	yes	missense,missense,missense	IFFO1	NM_001039670.2,NM_001193457.1,NM_080730.4	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	371/564,379/572,371/563	6657960	1,13005	2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6657960C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1103G>A	12.37:g.6657960C>T	ENSP00000380052:p.Arg368His					IFFO1_ENST00000396840.2_Missense_Mutation_p.R368H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R371H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R64H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R371H	p.R64H			Q0D2I5	IFFO1_HUMAN			7	750	-			368					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.191G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.137691|4.137691	0.77775|0.77775	2.27E-4|2.27E-4	0.0|0.0	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	.|D;D;D;D;D	.|0.92595	.|-3.07;-3.01;-2.64;-2.6;-2.7	4.26|4.26	3.35|3.35	0.38373|0.38373	.|.	.|0.173953	.|0.39146	.|N	.|0.001456	D|D	0.94801|0.94801	0.8321|0.8321	M|M	0.65498|0.65498	2.005|2.005	0.52501|0.52501	D|D	0.99995|0.99995	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;0.998;0.998;0.998;1.0	.|P;D;P;P;P;D	.|0.72338	.|0.881;0.977;0.881;0.881;0.881;0.969	D|D	0.94569|0.94569	0.7769|0.7769	5|10	.|0.62326	.|D	.|0.03	-12.9043|-12.9043	13.5503|13.5503	0.61728|0.61728	0.1572:0.8428:0.0:0.0|0.1572:0.8428:0.0:0.0	.|.	.|370;63;371;368;371;72	.|Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.|.;.;.;IFFO1_HUMAN;.;.	T|H	102|64;64;371;368;371;8	.|ENSP00000390721:R64H;ENSP00000436261:R64H;ENSP00000337593:R371H;ENSP00000380052:R368H;ENSP00000349364:R371H	.|ENSP00000337593:R371H	A|R	-|-	1|2	0|0	IFFO1|IFFO1	6528221|6528221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.699000|6.699000	0.74613|0.74613	0.879000|0.879000	0.35944|0.35944	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.657	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		3	31	0	0	0	1	0	3	31				
GUCY2C	2984	broad.mit.edu	37	12	14804406	14804406	+	Missense_Mutation	SNP	C	C	G	rs367698688	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:14804406C>G	ENST00000261170.3	-	15	1781	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCACTGTGCCGTAGAACTTG	0.403																																						ENST00000261170.3																			1	Substitution - Missense(1)	p.G549C(1)	breast(1)	breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1645-1647)Ggc>Cgc		guanylate cyclase 2C (heat stable enterotoxin receptor)							107.0	95.0	99.0					12																	14804406		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804406C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1645G>C	12.37:g.14804406C>G	ENSP00000261170:p.Gly549Arg						p.G549R	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			15	1781	-			549			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1645G>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935780	0.73442	.	.	ENSG00000070019	ENST00000261170	D	0.89196	-2.48	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96226	0.9164	10	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	549	P25092	GUC2C_HUMAN	R	549	ENSP00000261170:G549R	ENSP00000261170:G549R	G	-	1	0	GUCY2C	14695673	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.420000	0.80191	2.603000	0.88011	0.655000	0.94253	GGC		0.403	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			10	42	0	0	0	1	0	10	42				
IL27RA	9466	broad.mit.edu	37	19	14162942	14162942	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:14162942C>T	ENST00000263379.2	+	14	1876	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	584					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGGACTTGCCCATCCTGGAA	0.652																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1750-1752)cCc>cTc		interleukin 27 receptor, alpha							26.0	29.0	28.0					19																	14162942		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14162942C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1751C>T	19.37:g.14162942C>T	ENSP00000263379:p.Pro584Leu						p.P584L	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			14	1876	+			584					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.1751C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	5.685	0.310981	0.10733	.	.	ENSG00000104998	ENST00000263379	T	0.27557	1.66	5.33	4.08	0.47627	.	0.000000	0.53938	D	0.000056	T	0.31104	0.0786	M	0.70595	2.14	0.28519	N	0.913174	B	0.25235	0.121	B	0.17722	0.019	T	0.29150	-1.0021	10	0.62326	D	0.03	-23.1511	9.809	0.40810	0.0:0.8903:0.0:0.1097	.	584	Q6UWB1	I27RA_HUMAN	L	584	ENSP00000263379:P584L	ENSP00000263379:P584L	P	+	2	0	IL27RA	14023942	0.566000	0.26618	0.901000	0.35422	0.297000	0.27493	2.303000	0.43646	2.507000	0.84556	0.450000	0.29827	CCC		0.652	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		7	21	0	0	0	1	0	7	21				
DPEP2	64174	broad.mit.edu	37	16	68024898	68024898	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:68024898C>A	ENST00000572888.1	-	6	1385	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPEP2_ENST00000393847.1_Missense_Mutation_p.K245N|DPEP2_ENST00000412757.2_Missense_Mutation_p.K245N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	245					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGCCACCACCTTCTGCAGGG	0.527																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(733-735)aaG>aaT		dipeptidase 2							99.0	97.0	98.0					16																	68024898		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68024898C>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.735G>T	16.37:g.68024898C>A	ENSP00000458977:p.Lys245Asn					DPEP2_ENST00000393847.1_Missense_Mutation_p.K245N|DPEP2_ENST00000572888.1_Missense_Mutation_p.K245N	p.K245N			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	8	1400	-		Ovarian(137;0.192)	245					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.735G>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600600	0.28534	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.22134	1.97;1.97	4.8	1.83	0.25207	.	0.258408	0.37715	N	0.001978	T	0.17365	0.0417	M	0.64080	1.96	0.80722	D	1	B;B	0.12630	0.004;0.006	B;B	0.17979	0.02;0.012	T	0.07177	-1.0786	10	0.32370	T	0.25	-17.1142	3.3602	0.07184	0.182:0.5333:0.0:0.2847	.	245;158	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	N	245;245;158	ENSP00000377430:K245N;ENSP00000412549:K245N	ENSP00000314702:K158N	K	-	3	2	DPEP2	66582399	0.336000	0.24757	1.000000	0.80357	0.853000	0.48598	-0.187000	0.09656	0.754000	0.32968	-0.143000	0.13931	AAG		0.527	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		41	102	1	0	3.33635e-10	1	3.76227e-10	41	102				
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	66	0	0	0	1	0	4	66				
ZNF614	80110	broad.mit.edu	37	19	52520088	52520088	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:52520088T>C	ENST00000270649.6	-	5	1307	c.763A>G	c.(763-765)Aca>Gca	p.T255A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTTTGTCTGTTGTATTAGTT	0.353																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(763-765)Aca>Gca		zinc finger protein 614							68.0	67.0	67.0					19																	52520088		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520088T>C	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.763A>G	19.37:g.52520088T>C	ENSP00000270649:p.Thr255Ala					ZNF614_ENST00000356322.6_Intron	p.T255A	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1307	-		all_neural(266;0.0505)	255					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.763A>G	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296930	0.23650	.	.	ENSG00000142556	ENST00000270649	T	0.06528	3.29	3.53	-6.05	0.02172	.	.	.	.	.	T	0.01730	0.0055	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45101	-0.9284	9	0.66056	D	0.02	.	2.2743	0.04098	0.1126:0.3837:0.145:0.3587	.	255	Q8N883	ZN614_HUMAN	A	255	ENSP00000270649:T255A	ENSP00000270649:T255A	T	-	1	0	ZNF614	57211900	0.010000	0.17322	0.000000	0.03702	0.057000	0.15508	0.061000	0.14366	-0.954000	0.03640	0.533000	0.62120	ACA		0.353	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		15	53	0	0	0	1	0	15	53				
PKD1	5310	broad.mit.edu	37	16	2161134	2161134	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:2161134A>C	ENST00000262304.4	-	15	4242	c.4034T>G	c.(4033-4035)gTg>gGg	p.V1345G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V1345G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1345	PKD 8. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTGTGTCACCGTCGGGCA	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4033-4035)gTg>gGg		polycystic kidney disease 1 (autosomal dominant)							32.0	34.0	33.0					16																	2161134		2191	4293	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161134A>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4034T>G	16.37:g.2161134A>C	ENSP00000262304:p.Val1345Gly					PKD1_ENST00000423118.1_Missense_Mutation_p.V1345G	p.V1345G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4242	-			1345			PKD 8.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4034T>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	a	15.82	2.947269	0.53186	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70282	-0.47;-0.47	5.58	5.58	0.84498	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.202241	0.42053	D	0.000768	D	0.84297	0.5441	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.86487	0.1795	10	0.87932	D	0	.	15.7606	0.78076	1.0:0.0:0.0:0.0	.	1345;1345	P98161-3;P98161	.;PKD1_HUMAN	G	1345;1345;1026	ENSP00000262304:V1345G;ENSP00000399501:V1345G	ENSP00000262304:V1345G	V	-	2	0	PKD1	2101135	1.000000	0.71417	0.836000	0.33094	0.010000	0.07245	7.029000	0.76477	2.128000	0.65567	0.370000	0.22315	GTG		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			18	45	0	0	0	1	0	18	45				
PER2	8864	broad.mit.edu	37	2	239160327	239160327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:239160327C>A	ENST00000254657.3	-	20	3466	c.3187G>T	c.(3187-3189)Gag>Tag	p.E1063*	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1063	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAGAGGTCCTCATTCAGCAGG	0.607																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3187-3189)Gag>Tag		period circadian clock 2							147.0	138.0	141.0					2																	239160327		2203	4300	6503	SO:0001587	stop_gained	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239160327C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3187G>T	2.37:g.239160327C>A	ENSP00000254657:p.Glu1063*					AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.E1063*	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	20	3466	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1063					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Nonsense_Mutation	SNP	ENST00000254657.3	37	c.3187G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	40	8.364533	0.98779	.	.	ENSG00000132326	ENST00000254657	.	.	.	4.06	4.06	0.47325	.	0.191171	0.30959	U	0.008533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.0823	12.4938	0.55916	0.0:1.0:0.0:0.0	.	.	.	.	X	1063	.	ENSP00000254657:E1063X	E	-	1	0	PER2	238825066	1.000000	0.71417	0.086000	0.20670	0.070000	0.16714	4.873000	0.63057	2.206000	0.71126	0.557000	0.71058	GAG		0.607	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		5	77	1	0	0.00116845	1	0.00121427	5	77				
ZNF99	7652	broad.mit.edu	37	19	22951198	22951198	+	Silent	SNP	G	G	A	rs147397251		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:22951198G>A	ENST00000596209.1	-	3	225	c.135C>T	c.(133-135)atC>atT	p.I45I	ZNF99_ENST00000397104.3_Silent_p.I66I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I66I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGAGACAGCGATACCTGttt	0.333																																						ENST00000397104.3																			1	Substitution - coding silent(1)	p.I66I(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(196-198)atC>atT		zinc finger protein 99							45.0	45.0	45.0					19																	22951198		2137	4275	6412	SO:0001819	synonymous_variant	7652							g.chr19:22951198G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.135C>T	19.37:g.22951198G>A						ZNF99_ENST00000596209.1_Silent_p.I45I	p.I66I							3	197	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.198C>T	CCDS59369.1																																																																																				0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	33	0	0	0	1	0	16	33				
C6orf89	221477	broad.mit.edu	37	6	36887410	36887410	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:36887410C>T	ENST00000480824.2	+	8	1176	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000359359.2_Silent_p.L188L|C6orf89_ENST00000510325.2_Silent_p.L188L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	294					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGTTGCAGCTCATCCCTCCCT	0.532																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(880-882)ctC>ctT		chromosome 6 open reading frame 89							120.0	104.0	110.0					6																	36887410		2203	4300	6503	SO:0001819	synonymous_variant	221477					integral to membrane		g.chr6:36887410C>T	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.882C>T	6.37:g.36887410C>T						C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000510325.2_Silent_p.L188L|C6orf89_ENST00000359359.2_Silent_p.L188L	p.L294L			Q6UWU4	CF089_HUMAN			8	1176	+			294					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000480824.2	37	c.882C>T																																																																																					0.532	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		10	89	0	0	0	1	0	10	89				
CDC25B	994	broad.mit.edu	37	20	3785591	3785591	+	Missense_Mutation	SNP	C	C	T	rs369357260		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:3785591C>T	ENST00000245960.5	+	16	2423	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	CDC25B_ENST00000439880.2_Missense_Mutation_p.R562W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R512W|CDC25B_ENST00000340833.4_Missense_Mutation_p.R535W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R485W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	576					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCTCTGTAGCCGGCTGCAGGA	0.672																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1726-1728)Cgg>Tgg		cell division cycle 25B		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	31.0	34.0	33.0		1684,1603,1726	2.0	1.0	20		33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	562/567,535/540,576/581	3785591	1,13005	2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3785591C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1726C>T	20.37:g.3785591C>T	ENSP00000245960:p.Arg576Trp					CDC25B_ENST00000344256.6_Missense_Mutation_p.R512W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R562W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R485W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R535W	p.R576W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			16	2423	+			576					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1726C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152895	0.78001	0.0	1.16E-4	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.28666	1.69;1.9;1.6;1.6;1.82	5.35	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.80028	2.48	0.58432	D	0.999994	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.49606	-0.8922	10	0.87932	D	0	-25.5234	7.7864	0.29095	0.3525:0.5696:0.0:0.0779	.	485;498;512;464;535;562;576	B4DQZ3;B4DRC3;B4DIG0;B3KS38;P30305-3;P30305-2;P30305	.;.;.;.;.;.;MPIP2_HUMAN	W	512;485;576;562;535	ENSP00000339125:R512W;ENSP00000368918:R485W;ENSP00000245960:R576W;ENSP00000405972:R562W;ENSP00000339170:R535W	ENSP00000245960:R576W	R	+	1	2	CDC25B	3733591	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.581000	0.46077	0.199000	0.20427	-0.261000	0.10672	CGG		0.672	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		7	78	0	0	0	1	0	7	78				
TPTE2	93492	broad.mit.edu	37	13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	rs200244531		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.E43A(1)	kidney(1)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(127-129)gAa>gCa		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							52.0	51.0	51.0					13																	20056679		2201	4299	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056679T>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala					TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A	p.E43A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	172	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	43					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.128A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	69	0	0	0	1	0	3	69				
RNF13	11342	broad.mit.edu	37	3	149563860	149563860	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:149563860A>G	ENST00000344229.3	+	3	749	c.47A>G	c.(46-48)tAc>tGc	p.Y16C	ANKUB1_ENST00000473672.1_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.Y16C	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	16					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACACAAGTCTACACCATCTTG	0.428																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(46-48)tAc>tGc		ring finger protein 13							150.0	133.0	139.0					3																	149563860		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149563860A>G	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.47A>G	3.37:g.149563860A>G	ENSP00000341361:p.Tyr16Cys					ANKUB1_ENST00000473672.1_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.Y16C	p.Y16C	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	749	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	16					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.47A>G	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119029	0.56505	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000470151;ENST00000466478;ENST00000543506;ENST00000468648;ENST00000459632;ENST00000466795;ENST00000482539;ENST00000490631	T;T;T;T;T;T;T;T	0.49432	3.69;3.69;0.78;2.48;2.89;2.89;0.8;2.89	5.56	5.56	0.83823	.	0.267857	0.38663	N	0.001618	T	0.29028	0.0721	N	0.08118	0	0.80722	D	1	B	0.19445	0.036	B	0.15484	0.013	T	0.09015	-1.0694	10	0.38643	T	0.18	-22.4486	13.5317	0.61625	1.0:0.0:0.0:0.0	.	16	O43567	RNF13_HUMAN	C	16	ENSP00000376628:Y16C;ENSP00000341361:Y16C;ENSP00000419836:Y16C;ENSP00000420067:Y16C;ENSP00000419069:Y16C;ENSP00000417655:Y16C;ENSP00000420691:Y16C;ENSP00000417294:Y16C	ENSP00000341361:Y16C	Y	+	2	0	RNF13	151046550	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.953000	0.87836	2.245000	0.73994	0.482000	0.46254	TAC		0.428	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		17	50	0	0	0	1	0	17	50				
MUC17	140453	broad.mit.edu	37	7	100680909	100680909	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:100680909C>T	ENST00000306151.4	+	3	6276	c.6212C>T	c.(6211-6213)tCc>tTc	p.S2071F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2071	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACTCCAAAACTCAG	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6211-6213)tCc>tTc		mucin 17, cell surface associated							172.0	168.0	170.0					7																	100680909		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680909C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6212C>T	7.37:g.100680909C>T	ENSP00000302716:p.Ser2071Phe						p.S2071F	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6276	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2071			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6212C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646060	0.03531	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.512	0.512	0.16994	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.47497	-0.9113	9	0.36615	T	0.2	.	3.0115	0.06046	0.0:0.6249:0.0:0.3751	.	2071	Q685J3	MUC17_HUMAN	F	2071	ENSP00000302716:S2071F	ENSP00000302716:S2071F	S	+	2	0	MUC17	100467629	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.158000	0.10070	0.551000	0.29008	0.134000	0.15878	TCC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	215	0	0	0	1	0	83	215				
HIVEP1	3096	broad.mit.edu	37	6	12124160	12124160	+	Missense_Mutation	SNP	A	A	G	rs147240117		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:12124160A>G	ENST00000379388.2	+	4	4464	c.4132A>G	c.(4132-4134)Atg>Gtg	p.M1378V	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1378					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAACGTCAATGGAGGTCTC	0.468													A|||	1	0.000199681	0.0	0.0	5008	,	,		20779	0.001		0.0	False		,,,				2504	0.0					ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4132-4134)Atg>Gtg		human immunodeficiency virus type I enhancer binding protein 1							116.0	117.0	116.0					6																	12124160		2032	4188	6220	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124160A>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4132A>G	6.37:g.12124160A>G	ENSP00000368698:p.Met1378Val						p.M1378V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4464	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1378					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.4132A>G	CCDS43426.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	9.012	0.982705	0.18889	.	.	ENSG00000095951	ENST00000379388	T	0.10763	2.84	5.79	5.79	0.91817	.	0.000000	0.44097	D	0.000498	T	0.06735	0.0172	M	0.66939	2.045	0.80722	D	1	P	0.36027	0.533	B	0.28784	0.094	T	0.11203	-1.0597	9	.	.	.	-31.7091	16.1354	0.81481	1.0:0.0:0.0:0.0	.	1378	P15822	ZEP1_HUMAN	V	1378	ENSP00000368698:M1378V	.	M	+	1	0	HIVEP1	12232146	1.000000	0.71417	0.924000	0.36721	0.029000	0.11900	5.184000	0.65070	2.207000	0.71202	0.533000	0.62120	ATG		0.468	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		12	97	0	0	0	1	0	12	97				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	82	0	0	0	1	0	4	82				
PCDHB10	56126	broad.mit.edu	37	5	140574345	140574345	+	Silent	SNP	C	C	T	rs146513187		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:140574345C>T	ENST00000239446.4	+	1	2404	c.2220C>T	c.(2218-2220)gaC>gaT	p.D740D		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	740					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGGGGCG	0.627																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2218-2220)gaC>gaT									74.0	83.0	80.0					5																	140574345		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574345C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2220C>T	5.37:g.140574345C>T							p.D740D	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2404	+			740					Q96T99	Silent	SNP	ENST00000239446.4	37	c.2220C>T	CCDS4252.1																																																																																				0.627	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		5	189	0	0	0	1	0	5	189				
SLC24A3	57419	broad.mit.edu	37	20	19565661	19565661	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:19565661C>T	ENST00000328041.6	+	5	667	c.470C>T	c.(469-471)gCg>gTg	p.A157V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	157					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATGGCAGCGGGAAGTTCG	0.547																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(469-471)gCg>gTg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							95.0	83.0	87.0					20																	19565661		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19565661C>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.470C>T	20.37:g.19565661C>T	ENSP00000333519:p.Ala157Val						p.A157V	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			5	667	+			157					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.470C>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190615	0.94923	.	.	ENSG00000185052	ENST00000328041	T	0.63096	-0.02	5.19	5.19	0.71726	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	L	0.52266	1.64	0.80722	D	1	D	0.63880	0.993	P	0.59012	0.85	T	0.69639	-0.5091	9	.	.	.	.	16.2033	0.82103	0.0:1.0:0.0:0.0	.	157	Q9HC58	NCKX3_HUMAN	V	157	ENSP00000333519:A157V	.	A	+	2	0	SLC24A3	19513661	1.000000	0.71417	0.980000	0.43619	0.929000	0.56500	7.381000	0.79718	2.435000	0.82474	0.313000	0.20887	GCG		0.547	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		5	98	0	0	0	1	0	5	98				
RXRG	6258	broad.mit.edu	37	1	165414095	165414095	+	Silent	SNP	G	G	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:165414095G>T	ENST00000359842.5	-	1	338	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	12	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CATAGCCTGCGGGAAACTTCA	0.448																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(34-36)ccC>ccA		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						150.0	130.0	137.0					1																	165414095		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165414095G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.36C>A	1.37:g.165414095G>T							p.P12P	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			1	338	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		12			Modulating (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.36C>A	CCDS1248.1																																																																																				0.448	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		8	44	1	0	1.26484e-09	1	1.3966e-09	8	44				
RSAD1	55316	broad.mit.edu	37	17	48559551	48559551	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr17:48559551G>A	ENST00000258955.2	+	4	659	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	192					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)	p.V192M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCGGGCGCGTGTCTGTAGA	0.667											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258955.2																			1	Substitution - Missense(1)	p.V192M(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(574-576)Gtg>Atg		radical S-adenosyl methionine domain containing 1							34.0	39.0	38.0					17																	48559551		2203	4299	6502	SO:0001583	missense	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48559551G>A	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.574G>A	17.37:g.48559551G>A	ENSP00000258955:p.Val192Met		OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955		p.V192M	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		4	659	+	Breast(11;1.93e-18)		192					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	c.574G>A	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.629971	0.67015	.	.	ENSG00000136444	ENST00000258955	T	0.27104	1.69	5.48	4.42	0.53409	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.293371	0.32836	N	0.005595	T	0.41050	0.1142	M	0.73430	2.235	0.37155	D	0.90234	D	0.76494	0.999	D	0.67231	0.95	T	0.47289	-0.9129	10	0.31617	T	0.26	-21.8216	3.8023	0.08763	0.3419:0.0:0.6581:0.0	.	192	Q9HA92	RSAD1_HUMAN	M	192	ENSP00000258955:V192M	ENSP00000258955:V192M	V	+	1	0	RSAD1	45914550	1.000000	0.71417	0.147000	0.22382	0.643000	0.38383	5.088000	0.64486	2.563000	0.86464	0.655000	0.94253	GTG		0.667	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		39	76	0	0	0	1	0	39	76				
BNC2	54796	broad.mit.edu	37	9	16436741	16436741	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436741C>T	ENST00000380672.4	-	6	1508	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	BNC2_ENST00000545497.1_Missense_Mutation_p.R389Q|BNC2_ENST00000380666.2_Missense_Mutation_p.R484Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R417Q	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTACGACTTCGGAGGGAGCT	0.448																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1450-1452)cGa>cAa		basonuclin 2							144.0	134.0	137.0					9																	16436741		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436741C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1451G>A	9.37:g.16436741C>T	ENSP00000370047:p.Arg484Gln					BNC2_ENST00000380666.2_Missense_Mutation_p.R484Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R389Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R417Q	p.R484Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1508	-			484						Missense_Mutation	SNP	ENST00000380672.4	37	c.1451G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303448	0.81136	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.997;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.99;1.0;0.992;0.953;0.996;0.986;0.996	T	0.59716	-0.7402	10	0.66056	D	0.02	-8.9021	20.2422	0.98381	0.0:1.0:0.0:0.0	.	389;417;484;310;484;441;484;389;249	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	Q	484;441;417;389;310;484;484	ENSP00000370047:R484Q;ENSP00000408370:R441Q;ENSP00000370042:R417Q;ENSP00000444640:R389Q;ENSP00000370041:R484Q	ENSP00000370041:R484Q	R	-	2	0	BNC2	16426741	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGA		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		10	105	0	0	0	1	0	10	105				
ASXL1	171023	broad.mit.edu	37	20	31023729	31023729	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:31023729G>A	ENST00000375687.4	+	13	3638	c.3214G>A	c.(3214-3216)Gtc>Atc	p.V1072I	ASXL1_ENST00000306058.5_Missense_Mutation_p.V1067I	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1072					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTATGTGCGGTCCGCCAAAA	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3214-3216)Gtc>Atc		additional sex combs like 1 (Drosophila)							137.0	113.0	121.0					20																	31023729		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023729G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3214G>A	20.37:g.31023729G>A	ENSP00000364839:p.Val1072Ile					ASXL1_ENST00000306058.5_Missense_Mutation_p.V1067I	p.V1072I	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3638	+			1072					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3214G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208425	0.39003	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.25085	1.82;1.82	4.17	1.16	0.20824	.	1.231330	0.05415	N	0.543126	T	0.17195	0.0413	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29427	-1.0012	10	0.33141	T	0.24	-0.2541	1.0232	0.01522	0.2759:0.1537:0.4127:0.1577	.	1067;1072	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	I	1072;1072;1072;993;1067	ENSP00000364839:V1072I;ENSP00000305119:V1067I	ENSP00000305119:V1067I	V	+	1	0	ASXL1	30487390	0.000000	0.05858	0.002000	0.10522	0.984000	0.73092	0.086000	0.14935	0.306000	0.22856	0.561000	0.74099	GTC		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		4	179	0	0	0	1	0	4	179				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	108	0	0	0	1	0	5	108				
GDNF	2668	broad.mit.edu	37	5	37816139	37816139	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:37816139C>A	ENST00000326524.2	-	3	449	c.250G>T	c.(250-252)Gca>Tca	p.A84S	GDNF_ENST00000381826.4_Missense_Mutation_p.A75S|GDNF_ENST00000427982.1_Missense_Mutation_p.A101S|GDNF_ENST00000515058.1_Missense_Mutation_p.A58S|GDNF_ENST00000344622.4_Missense_Mutation_p.A58S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	84					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGAAGCACTGCCATTTGTTTA	0.483																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(250-252)Gca>Tca		glial cell derived neurotrophic factor							85.0	90.0	88.0					5																	37816139		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816139C>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.250G>T	5.37:g.37816139C>A	ENSP00000317145:p.Ala84Ser					GDNF_ENST00000515058.1_Missense_Mutation_p.A58S|GDNF_ENST00000381826.4_Missense_Mutation_p.A75S|GDNF_ENST00000344622.4_Missense_Mutation_p.A58S|GDNF_ENST00000427982.1_Missense_Mutation_p.A101S	p.A84S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	449	-	all_lung(31;0.00118)		84					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.250G>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713848	0.30413	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826;ENST00000502572;ENST00000510177	D;D;D;D;D;T;T	0.93488	-3.2;-3.21;-3.21;-3.21;-3.23;-1.16;-1.16	5.9	5.04	0.67666	.	0.332745	0.34580	N	0.003847	D	0.89171	0.6639	L	0.56769	1.78	0.26240	N	0.978884	B;B;B;B	0.33549	0.013;0.417;0.029;0.009	B;B;B;B	0.28011	0.002;0.085;0.008;0.012	T	0.78262	-0.2272	10	0.13853	T	0.58	-3.6407	10.8953	0.47019	0.0:0.7602:0.1659:0.0739	.	84;75;101;58	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	S	84;58;58;101;75;58;58	ENSP00000317145:A84S;ENSP00000339703:A58S;ENSP00000425928:A58S;ENSP00000409007:A101S;ENSP00000371248:A75S;ENSP00000423557:A58S;ENSP00000424592:A58S	ENSP00000317145:A84S	A	-	1	0	GDNF	37851896	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	2.284000	0.43478	1.511000	0.48818	0.655000	0.94253	GCA		0.483	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		11	93	1	0	5.50884e-06	1	5.83937e-06	11	93				
APOB	338	broad.mit.edu	37	2	21232902	21232902	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:21232902G>A	ENST00000233242.1	-	26	6965	c.6838C>T	c.(6838-6840)Cac>Tac	p.H2280Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2280					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCTAGGTGCTGGATGTCT	0.348																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6838-6840)Cac>Tac		apolipoprotein B	Atorvastatin(DB01076)						147.0	142.0	144.0					2																	21232902		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232902G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6838C>T	2.37:g.21232902G>A	ENSP00000233242:p.His2280Tyr						p.H2280Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6965	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2280					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6838C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	2.999	-0.206401	0.06180	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.76	-0.97	0.10306	.	1.193380	0.05829	N	0.617277	T	0.00875	0.0029	L	0.51422	1.61	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.50154	-0.8861	10	0.13470	T	0.59	.	3.9578	0.09398	0.1188:0.2634:0.4207:0.1971	.	2280	P04114	APOB_HUMAN	Y	2280	ENSP00000233242:H2280Y	ENSP00000233242:H2280Y	H	-	1	0	APOB	21086407	0.000000	0.05858	0.139000	0.22197	0.217000	0.24651	-0.244000	0.08903	0.044000	0.15775	0.561000	0.74099	CAC		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			39	89	0	0	0	1	0	39	89				
CERS2	29956	broad.mit.edu	37	1	150938748	150938748	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:150938748C>T	ENST00000271688.6	-	11	1405	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Missense_Mutation_p.R340H|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	340					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCGGTCACTGCGTTCATCTTC	0.542																																						ENST00000271688.6																			0											c.(1018-1020)cGc>cAc		ceramide synthase 2							74.0	70.0	72.0					1																	150938748		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150938748C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.1019G>A	1.37:g.150938748C>T	ENSP00000271688:p.Arg340His					CERS2_ENST00000368954.5_Missense_Mutation_p.R340H|CERS2_ENST00000561294.1_Intron|CERS2_ENST00000345896.4_5'UTR	p.R340H	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			11	1405	-			340					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.1019G>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046949	0.93740	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896	T;T;T	0.37058	2.21;2.21;1.22	5.54	5.54	0.83059	.	0.066462	0.49916	D	0.000124	T	0.71143	0.3305	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.80650	-0.1288	10	0.87932	D	0	-2.4951	19.2866	0.94077	0.0:1.0:0.0:0.0	.	340	Q96G23	CERS2_HUMAN	H	340;340;190	ENSP00000357950:R340H;ENSP00000271688:R340H;ENSP00000337842:R190H	ENSP00000271688:R340H	R	-	2	0	CERS2	149205372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.858000	0.75461	2.884000	0.98904	0.655000	0.94253	CGC		0.542	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		25	62	0	0	0	1	0	25	62				
TIAM2	26230	broad.mit.edu	37	6	155572137	155572137	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:155572137C>A	ENST00000461783.3	+	24	5315	c.4042C>A	c.(4042-4044)Ctt>Att	p.L1348I	TIAM2_ENST00000456144.1_Missense_Mutation_p.L1377I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L684I|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1377I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1372I|TIAM2_ENST00000367174.2_Missense_Mutation_p.L724I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L660I|TIAM2_ENST00000275246.7_Missense_Mutation_p.L273I|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1348I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1348	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAGAAAGGACCTTGAGCTCAC	0.453																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4042-4044)Ctt>Att		T-cell lymphoma invasion and metastasis 2							142.0	134.0	137.0					6																	155572137		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155572137C>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4042C>A	6.37:g.155572137C>A	ENSP00000437188:p.Leu1348Ile					TIAM2_ENST00000318981.5_Missense_Mutation_p.L1348I|TIAM2_ENST00000275246.7_Missense_Mutation_p.L273I|TIAM2_ENST00000367174.2_Missense_Mutation_p.L724I|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1377I|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1377I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L684I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1372I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L660I	p.L1348I			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	24	5315	+		Ovarian(120;0.196)	1348			PH 2.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4042C>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858683	0.32791	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.07908	3.58;3.46;3.48;3.58;3.39;3.57;3.48;3.38;3.38;3.15	5.43	2.61	0.31194	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.198083	0.45126	N	0.000398	T	0.02012	0.0063	L	0.43152	1.355	0.31980	N	0.606002	B;B;B;B	0.13594	0.001;0.008;0.008;0.005	B;B;B;B	0.18871	0.006;0.023;0.023;0.004	T	0.47100	-0.9143	10	0.19147	T	0.46	.	6.0937	0.20008	0.1365:0.6494:0.0:0.2141	.	684;1377;1372;1348	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	1348;1594;1348;1377;1348;724;1372;1377;660;684;273	ENSP00000437188:L1348I;ENSP00000434901:L1348I;ENSP00000407746:L1377I;ENSP00000327315:L1348I;ENSP00000356142:L724I;ENSP00000353528:L1372I;ENSP00000433348:L1377I;ENSP00000407183:L660I;ENSP00000435335:L684I;ENSP00000275246:L273I	ENSP00000275246:L273I	L	+	1	0	TIAM2	155613829	1.000000	0.71417	0.941000	0.38009	0.987000	0.75469	3.381000	0.52455	0.245000	0.21373	0.655000	0.94253	CTT		0.453	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		32	95	1	0	1.99505e-19	1	2.29865e-19	32	95				
HTR2B	3357	broad.mit.edu	37	2	231988403	231988403	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:231988403C>G	ENST00000258400.3	-	2	588	c.76G>C	c.(76-78)Gtt>Ctt	p.V26L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	26					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GAAGAGATAACGTGAACAAAG	0.418																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(76-78)Gtt>Ctt		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						167.0	160.0	162.0					2																	231988403		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231988403C>G		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.76G>C	2.37:g.231988403C>G	ENSP00000258400:p.Val26Leu					PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	p.V26L	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	2	588	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	26					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.76G>C	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.332186	0.01298	.	.	ENSG00000135914	ENST00000258400	T	0.58358	0.34	5.52	1.9	0.25705	.	0.474536	0.19227	N	0.119516	T	0.10981	0.0268	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38134	-0.9675	10	0.02654	T	1	.	4.6941	0.12795	0.6606:0.1674:0.172:0.0	.	26	P41595	5HT2B_HUMAN	L	26	ENSP00000258400:V26L	ENSP00000258400:V26L	V	-	1	0	HTR2B	231696647	0.332000	0.24722	0.362000	0.25862	0.494000	0.33585	1.004000	0.29822	0.406000	0.25560	-0.375000	0.07067	GTT		0.418	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		12	146	0	0	0	1	0	12	146				
RGS3	5998	broad.mit.edu	37	9	116356367	116356367	+	Intron	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:116356367C>G	ENST00000374140.2	+	23	3289				RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462403.1_Silent_p.L56L|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTCCTGGCTCCTCCTGTCTG	0.612																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(166-168)ctC>ctG		regulator of G-protein signaling 3							76.0	86.0	82.0					9																	116356367		2203	4299	6502	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356367C>G	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-343C>G	9.37:g.116356367C>G						RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron	p.L56L	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	602	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.168C>G	CCDS43869.1																																																																																				0.612	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		33	212	0	0	0	1	0	33	212				
ALDH4A1	8659	broad.mit.edu	37	1	19203914	19203914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:19203914delC	ENST00000375341.3	-	10	1390	c.1133delG	c.(1132-1134)ggcfs	p.G378fs	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Frame_Shift_Del_p.G318fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000290597.5_Frame_Shift_Del_p.G378fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	378					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCACGTCGCCCACTTTGAT	0.701																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(1132-1134)gcfs		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						23.0	24.0	24.0					1																	19203914		2197	4286	6483	SO:0001589	frameshift_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19203914delC	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1133delG	1.37:g.19203914delC	ENSP00000364490:p.Gly378fs					ALDH4A1_ENST00000290597.5_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538309.1_Frame_Shift_Del_p.G318fs|RP13-279N23.2_ENST00000494072.3_3'UTR	p.G378fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	10	1390	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	378					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Frame_Shift_Del	DEL	ENST00000375341.3	37	c.1133delG	CCDS188.1																																																																																				0.701	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			2	4						2	4	---	---	---	---
CHDH	55349	broad.mit.edu	37	3	53852145	53852145	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:53852145delG	ENST00000315251.6	-	9	1881	c.1444delC	c.(1444-1446)cgafs	p.R482fs		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	482					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCTTTCCCTCGGAACGGAGCC	0.522																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1444-1446)gafs		choline dehydrogenase	Choline(DB00122)						64.0	62.0	63.0					3																	53852145		2203	4300	6503	SO:0001589	frameshift_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852145delG	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1444delC	3.37:g.53852145delG	ENSP00000319851:p.Arg482fs						p.R482fs	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	1881	-		Hepatocellular(537;0.152)	482					Q9NY17	Frame_Shift_Del	DEL	ENST00000315251.6	37	c.1444delC	CCDS2873.1																																																																																				0.522	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		17	103						17	103	---	---	---	---
RP11-324C10.1	0	broad.mit.edu	37	3	172992494	172992494	+	lincRNA	DEL	C	C	-	rs565471684|rs371260857|rs79222726	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:172992494delC	ENST00000447709.1	+	0	216																											aacaaacaaacaaaaacatgt	0.512													|||unknown(STR4?)	1924	0.384185	0.3797	0.3833	5008	,	,		20514	0.5536		0.2406	False		,,,				2504	0.364					ENST00000447709.1																			0																																																			0							g.chr3:172992494delC																													3.37:g.172992494delC														0	216	+									RNA	DEL	ENST00000447709.1	37																																																																																						0.512	RP11-324C10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347063.2			4	3						4	3	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			8	82						8	82	---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176778547	176778547	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:176778547delA	ENST00000303127.7	-	1	306	c.102delT	c.(100-102)tttfs	p.F34fs	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Frame_Shift_Del_p.F34fs	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	34					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAAGAAGAAAGAGAGGTG	0.602																																						ENST00000303127.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(100-102)ttfs		lectin, mannose-binding 2							52.0	52.0	52.0					5																	176778547		2203	4300	6503	SO:0001589	frameshift_variant	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176778547delA	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.102delT	5.37:g.176778547delA	ENSP00000303366:p.Phe34fs					LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Frame_Shift_Del_p.F34fs	p.F34fs	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	306	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	34					Q53HH1	Frame_Shift_Del	DEL	ENST00000303127.7	37	c.102delT	CCDS4417.1																																																																																				0.602	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		11	51						11	51	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		9	197						9	197	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436375	16436375	+	Frame_Shift_Del	DEL	G	G	-	rs116528562	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436375delG	ENST00000380672.4	-	6	1874	c.1817delC	c.(1816-1818)ccgfs	p.P608fs	BNC2_ENST00000545497.1_Frame_Shift_Del_p.P513fs|BNC2_ENST00000380666.2_Frame_Shift_Del_p.P608fs|BNC2_ENST00000380667.2_Frame_Shift_Del_p.P541fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAGGGTGGCGGGGGGTGCTG	0.562																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cgfs		basonuclin 2							61.0	63.0	62.0					9																	16436375		2203	4300	6503	SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436375delG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1817delC	9.37:g.16436375delG	ENSP00000370047:p.Pro608fs					BNC2_ENST00000380666.2_Frame_Shift_Del_p.P608fs|BNC2_ENST00000545497.1_Frame_Shift_Del_p.P513fs|BNC2_ENST00000380667.2_Frame_Shift_Del_p.P541fs	p.P608fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874	-			608			Pro-rich.			Frame_Shift_Del	DEL	ENST00000380672.4	37	c.1817delC	CCDS6482.2																																																																																				0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		28	127						28	127	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					ENST00000330915.3																			2	Deletion - In frame(2)	p.D489_S492delDGDS(2)	large_intestine(1)|breast(1)	breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1465-1479)gag>ga		KN motif and ankyrin repeat domains 3				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			5	1532_1543	-			489					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	4						3	4	---	---	---	---
SLC19A1	6573	broad.mit.edu	37	21	46950724	46950727	+	Frame_Shift_Del	DEL	GCAC	GCAC	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr21:46950724_46950727delGCAC	ENST00000311124.4	-	4	1260_1263	c.1108_1111delGTGC	c.(1108-1113)gtgctgfs	p.VL370fs	SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.VL330fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	370					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCGCGGAACAGCACGAAGGCCGCA	0.696																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1108-1113)tgfs		solute carrier family 19 (folate transporter), member 1																																				SO:0001589	frameshift_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950724_46950727delGCAC	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1108_1111delGTGC	21.37:g.46950724_46950727delGCAC	ENSP00000308895:p.Val370fs					SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.VL330fs|SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.VL370fs	p.VL370fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1260_1263	-			370					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Frame_Shift_Del	DEL	ENST00000311124.4	37	c.1108_1111delGTGC	CCDS13725.1																																																																																				0.696	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			3	4						3	4	---	---	---	---
