#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HSD3B2	3284	broad.mit.edu	37	1	119964584	119964584	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr1:119964584T>C	ENST00000543831.1	+	4	709	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	154					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GCCCACTCCATACCCGTACAG	0.507																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(460-462)Tac>Cac		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						88.0	87.0	87.0					1																	119964584		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964584T>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.460T>C	1.37:g.119964584T>C	ENSP00000445122:p.Tyr154His		Somatic				HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	p.Y154H	NM_001166120.1	NP_001159592.1	WXS	Illumina GAIIx	Phase_I	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	709	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	154					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.460T>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	14.33	2.503486	0.44558	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.96774	-4.12;-4.12;-4.12	3.98	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	9	.	.	.	-6.6302	12.0934	0.53739	0.0:0.0:0.0:1.0	.	154	P26439	3BHS2_HUMAN	H	154	ENSP00000445122:Y154H;ENSP00000388292:Y154H;ENSP00000358424:Y154H	.	Y	+	1	0	HSD3B2	119766107	1.000000	0.71417	0.695000	0.30226	0.005000	0.04900	5.316000	0.65815	1.463000	0.47967	0.248000	0.18094	TAC		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		59	110	59	110	---	---	---	---
TTL	150465	broad.mit.edu	37	2	113260504	113260504	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr2:113260504G>A	ENST00000233336.6	+	5	812	c.621G>A	c.(619-621)gtG>gtA	p.V207V		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	207	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGGTCTTGGTGGATCATCAGT	0.388			T	ETV6	ALL																																	ENST00000233336.6				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(619-621)gtG>gtA		tubulin tyrosine ligase							103.0	104.0	104.0					2																	113260504		2203	4300	6503	SO:0001819	synonymous_variant	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260504G>A		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.621G>A	2.37:g.113260504G>A			Somatic					p.V207V	NM_153712.4	NP_714923.1	WXS	Illumina GAIIx	Phase_I	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	812	+		Ovarian(717;0.024)				TTL.		Q585T3|Q7Z302|Q8N426	Silent	SNP	ENST00000233336.6	37	c.621G>A	CCDS2096.1																																																																																				0.388	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		13	39	13	39	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43296014	43296014	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:43296014T>A	ENST00000325110.6	-	6	951	c.745A>T	c.(745-747)Aat>Tat	p.N249Y	HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	249					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TCTTTATCATTTCCCTCTGAA	0.318																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(745-747)Aat>Tat		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							54.0	56.0	56.0					5																	43296014		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43296014T>A		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.745A>T	5.37:g.43296014T>A	ENSP00000322706:p.Asn249Tyr		Somatic				HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	p.N249Y	NM_001098272.2	NP_001091742.1	WXS	Illumina GAIIx	Phase_I	Q01581	HMCS1_HUMAN			6	951	-			249					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.745A>T	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604653	0.46423	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.90563	-2.69;-2.69	5.77	5.77	0.91146	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.235100	0.48767	D	0.000168	D	0.87481	0.6188	L	0.39898	1.24	0.40800	D	0.983335	B	0.11235	0.004	B	0.10450	0.005	D	0.84102	0.0396	10	0.59425	D	0.04	-18.798	16.0934	0.81106	0.0:0.0:0.0:1.0	.	249	Q01581	HMCS1_HUMAN	Y	249;249;238	ENSP00000322706:N249Y;ENSP00000399402:N249Y	ENSP00000322706:N249Y	N	-	1	0	HMGCS1	43331771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.081000	0.50120	2.207000	0.71202	0.477000	0.44152	AAT		0.318	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			4	59	4	59	---	---	---	---
ZNF300P1	134466	broad.mit.edu	37	5	150322149	150322149	+	RNA	SNP	A	A	G			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:150322149A>G	ENST00000520773.1	-	0	1335									zinc finger protein 300 pseudogene 1 (functional)																		CCAGCATCACATCCCTGTACA	0.502																																						ENST00000520773.1																			0																																																			134466							g.chr5:150322149A>G	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150322149A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1335	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.502	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		12	57	12	57	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57372333	57372333	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:57372333C>A	ENST00000607273.1	+	8	826	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	247					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGAAAGACTTCAGCCTCTGCT	0.403																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(739-741)Cag>Aag		primase, DNA, polypeptide 2 (58kDa)							137.0	122.0	127.0					6																	57372333		1922	4151	6073	SO:0001583	missense	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57372333C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.739C>A	6.37:g.57372333C>A	ENSP00000475738:p.Gln247Lys		Somatic				PRIM2_ENST00000389488.2_3'UTR	p.Q247K	NM_000947.3	NP_000938.2	WXS	Illumina GAIIx	Phase_I	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	8	826	+			247					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37	c.739C>A																																																																																					0.403	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		4	41	4	41	---	---	---	---
TRGV2	6974	broad.mit.edu	37	7	38402925	38402925	+	RNA	SNP	T	T	C	rs566882501	byFrequency	TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:38402925T>C	ENST00000426402.2	-	0	194									T cell receptor gamma variable 2																		TAGGGCCCACTGCATGCCTTC	0.507													T|||	3	0.000599042	0.0015	0.0	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001					ENST00000426402.2																			0																				81.0	79.0	79.0					7																	38402925		1899	4114	6013			6974							g.chr7:38402925T>C	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402925T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	194	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.507	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		4	65	4	65	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121942294	121942294	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:121942294G>A	ENST00000442488.2	-	4	1252	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1_ENST00000427185.2_Silent_p.N345N|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	395					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTCTTGTCGTTGTGGGTGT	0.547																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(1183-1185)aaC>aaT		FEZ family zinc finger 1							195.0	159.0	172.0					7																	121942294		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942294G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1185C>T	7.37:g.121942294G>A			Somatic				FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1_ENST00000427185.2_Silent_p.N345N	p.N395N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	WXS	Illumina GAIIx	Phase_I	A0PJY2	FEZF1_HUMAN			4	1252	-			395					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1185C>T	CCDS34741.2																																																																																				0.547	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		5	113	5	113	---	---	---	---
SIPA1	6494	broad.mit.edu	37	11	65413798	65413798	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:65413798T>C	ENST00000394224.3	+	7	1666	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	457	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTCCAGCACGTGTTCCTAGTG	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1369-1371)gTg>gCg		signal-induced proliferation-associated 1							107.0	92.0	97.0					11																	65413798		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413798T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1370T>C	11.37:g.65413798T>C	ENSP00000377771:p.Val457Ala		Somatic				SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A	p.V457A	NM_153253.29	NP_694985.29	WXS	Illumina GAIIx	Phase_I	Q96FS4	SIPA1_HUMAN			7	1666	+			457			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1370T>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670553	0.29693	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.03	2.87	0.33458	Rap/ran-GAP (2);	0.138572	0.27558	U	0.018822	D	0.92303	0.7558	M	0.64997	1.995	0.32777	N	0.503052	B;B	0.21905	0.062;0.006	B;B	0.28638	0.092;0.016	D	0.91513	0.5228	10	0.87932	D	0	-2.8496	8.965	0.35872	0.0:0.0:0.1881:0.8119	.	457;457	F6RY50;Q96FS4	.;SIPA1_HUMAN	A	457	ENSP00000436269:V457A;ENSP00000433686:V457A;ENSP00000377771:V457A;ENSP00000377774:V457A	ENSP00000377771:V457A	V	+	2	0	SIPA1	65170374	0.994000	0.37717	0.176000	0.23000	0.224000	0.24922	3.232000	0.51302	0.702000	0.31825	0.379000	0.24179	GTG		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		8	44	8	44	---	---	---	---
CAPN5	726	broad.mit.edu	37	11	76823690	76823690	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:76823690C>T	ENST00000278559.3	+	4	542	c.353C>T	c.(352-354)gCg>gTg	p.A118V	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V|CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	118	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGCCTACGCGGGCATCTTC	0.612																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(352-354)gCg>gTg		calpain 5							111.0	94.0	100.0					11																	76823690		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76823690C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.353C>T	11.37:g.76823690C>T	ENSP00000278559:p.Ala118Val		Somatic				CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V	p.A118V	NM_004055.4	NP_004046.2	WXS	Illumina GAIIx	Phase_I	O15484	CAN5_HUMAN			4	542	+			118			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.353C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579839	0.46006	.	.	ENSG00000149260	ENST00000278559;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.89196	-2.48;-2.48;-2.48	4.16	2.25	0.28309	Peptidase C2, calpain, catalytic domain (3);	0.111825	0.64402	D	0.000012	D	0.83982	0.5372	M	0.67569	2.06	0.26271	N	0.978425	B;B;B;P	0.35174	0.256;0.062;0.195;0.488	B;B;B;B	0.29524	0.064;0.066;0.103;0.044	T	0.76427	-0.2963	10	0.66056	D	0.02	.	7.1109	0.25390	0.0:0.6905:0.1424:0.1671	.	156;158;158;118	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	V	118;87;158;118;158;158	ENSP00000278559:A118V;ENSP00000432332:A118V;ENSP00000409996:A158V	ENSP00000278559:A118V	A	+	2	0	CAPN5	76501338	0.994000	0.37717	0.083000	0.20561	0.954000	0.61252	3.139000	0.50577	0.393000	0.25203	-0.264000	0.10439	GCG		0.612	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		8	52	8	52	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114450926	114450926	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:114450926C>T	ENST00000375478.3	-	5	1207	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	343						extracellular vesicular exosome (GO:0070062)											ATGAGTTTTCCTCTCAGGCAT	0.443																																						ENST00000375478.3																			0											c.(1027-1029)Gga>Aga		neurexophilin and PC-esterase domain family, member 4							203.0	192.0	195.0					11																	114450926		1876	4124	6000	SO:0001583	missense	54827							g.chr11:114450926C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1027G>A	11.37:g.114450926C>T	ENSP00000364627:p.Gly343Arg		Somatic				NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	p.G343R	NM_001077639.1	NP_001071107.1	WXS	Illumina GAIIx	Phase_I					5	1207	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1027G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415986	0.62511	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.21031	2.03;2.59	5.31	3.41	0.39046	.	0.098627	0.44285	D	0.000470	T	0.35068	0.0919	M	0.71036	2.16	0.33700	D	0.614397	P	0.51057	0.941	P	0.55011	0.766	T	0.49818	-0.8899	10	0.38643	T	0.18	.	10.3365	0.43852	0.0:0.8349:0.0:0.1651	.	343	Q6UWF7	FA55D_HUMAN	R	59;343	ENSP00000401503:G59R;ENSP00000364627:G343R	ENSP00000364627:G343R	G	-	1	0	FAM55D	113956136	0.345000	0.24835	0.577000	0.28562	0.240000	0.25518	0.680000	0.25306	0.699000	0.31761	0.655000	0.94253	GGA		0.443	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		17	83	17	83	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63544328	63544328	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:63544328C>A	ENST00000299178.2	-	1	394	c.289G>T	c.(289-291)Gac>Tac	p.D97Y		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	97					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACGGCCAGGTCGGCCAGGCTG	0.667																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(289-291)Gac>Tac		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						22.0	27.0	25.0					12																	63544328		2203	4299	6502	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544328C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.289G>T	12.37:g.63544328C>A	ENSP00000299178:p.Asp97Tyr		Somatic					p.D97Y	NM_000706.4	NP_000697.1	WXS	Illumina GAIIx	Phase_I	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	394	-			97						Missense_Mutation	SNP	ENST00000299178.2	37	c.289G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467685	0.84533	.	.	ENSG00000166148	ENST00000299178	D	0.88896	-2.44	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98457	1.0594	9	.	.	.	-31.8265	16.7871	0.85576	0.0:1.0:0.0:0.0	.	97	P37288	V1AR_HUMAN	Y	97	ENSP00000299178:D97Y	.	D	-	1	0	AVPR1A	61830595	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.683000	0.84093	2.304000	0.77564	0.462000	0.41574	GAC		0.667	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			8	20	8	20	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86198925	86198925	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:86198925T>C	ENST00000361228.3	-	2	1231	c.863A>G	c.(862-864)gAa>gGa	p.E288G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	288					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TACCTCTTTTTCTATTTCAGC	0.398																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(862-864)gAa>gGa		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							128.0	124.0	125.0					12																	86198925		1847	4099	5946	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198925T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.863A>G	12.37:g.86198925T>C	ENSP00000354884:p.Glu288Gly		Somatic					p.E288G	NM_005447.3	NP_005438.2	WXS	Illumina GAIIx	Phase_I	O75901	RASF9_HUMAN			2	1231	-			288					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.863A>G	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938858	0.52972	.	.	ENSG00000198774	ENST00000361228	T	0.50001	0.76	4.9	4.9	0.64082	.	0.127443	0.50627	U	0.000120	T	0.51126	0.1656	L	0.56769	1.78	0.42852	D	0.994087	P	0.50369	0.934	P	0.46237	0.508	T	0.58691	-0.7592	10	0.66056	D	0.02	-23.6088	14.7987	0.69898	0.0:0.0:0.0:1.0	.	288	O75901	RASF9_HUMAN	G	288	ENSP00000354884:E288G	ENSP00000354884:E288G	E	-	2	0	RASSF9	84723056	0.927000	0.31430	0.996000	0.52242	0.988000	0.76386	3.978000	0.56881	1.958000	0.56883	0.528000	0.53228	GAA		0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			21	97	21	97	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104056648	104056648	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:104056648G>A	ENST00000388887.2	+	18	2098	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGATGTGGCAATGGAAGA	0.458																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1894-1896)Gca>Aca		stabilin 2							126.0	119.0	121.0					12																	104056648		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104056648G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1894G>A	12.37:g.104056648G>A	ENSP00000373539:p.Ala632Thr		Somatic					p.A632T	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			18	2098	+			632			FAS1 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1894G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555403	0.65425	.	.	ENSG00000136011	ENST00000388887	D	0.90069	-2.61	5.31	5.31	0.75309	FAS1 domain (5);	0.126827	0.51477	D	0.000081	D	0.85877	0.5799	L	0.33668	1.02	0.34013	D	0.651687	D	0.57571	0.98	P	0.51550	0.673	D	0.87075	0.2162	10	0.29301	T	0.29	.	9.4851	0.38924	0.0788:0.1461:0.7751:0.0	.	632	Q8WWQ8	STAB2_HUMAN	T	632	ENSP00000373539:A632T	ENSP00000373539:A632T	A	+	1	0	STAB2	102580778	0.992000	0.36948	0.631000	0.29282	0.543000	0.35085	1.417000	0.34770	2.478000	0.83669	0.655000	0.94253	GCA		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			10	74	10	74	---	---	---	---
BMP4	652	broad.mit.edu	37	14	54416914	54416914	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:54416914C>T	ENST00000245451.4	-	4	1456	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	BMP4_ENST00000417573.1_Missense_Mutation_p.A355T|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	355					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCACAATGGCATGGTTGGTT	0.547																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(1063-1065)Gcc>Acc		bone morphogenetic protein 4							166.0	141.0	149.0					14																	54416914		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54416914C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1063G>A	14.37:g.54416914C>T	ENSP00000245451:p.Ala355Thr		Somatic				BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T	p.A355T	NM_001202.3	NP_001193.2	WXS	Illumina GAIIx	Phase_I	P12644	BMP4_HUMAN			4	1456	-			355					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.1063G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613433	0.87359	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	D;D	0.86497	-2.13;-2.13	5.53	5.53	0.82687	Transforming growth factor-beta, C-terminal (3);	0.048215	0.85682	D	0.000000	D	0.94268	0.8159	M	0.88979	2.995	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	D	0.94723	0.7902	10	0.87932	D	0	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	355	P12644	BMP4_HUMAN	T	355	ENSP00000245451:A355T;ENSP00000394165:A355T	ENSP00000245451:A355T	A	-	1	0	BMP4	53486664	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.644000	0.83416	2.882000	0.98803	0.655000	0.94253	GCC		0.547	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		37	54	37	54	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106330052	106330052	+	RNA	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:106330052G>A	ENST00000390560.2	-	0	0				IGHJ3_ENST00000463911.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHD7-27_ENST00000439842.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA					immunoglobulin heavy joining 6																		GGGTTCCCTGGCCCCAGGGGT	0.617																																						ENST00000488476.1																			0																																																			28476							g.chr14:106330052G>A	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106330052G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	20	-									RNA	SNP	ENST00000390560.2	37																																																																																						0.617	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		3	8	3	8	---	---	---	---
KRT27	342574	broad.mit.edu	37	17	38936677	38936677	+	Missense_Mutation	SNP	C	C	T	rs116334559		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:38936677C>T	ENST00000301656.3	-	3	599	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.V187M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCCGCCTCCACGCTCTGGTGA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.0					ENST00000301656.3																			1	Substitution - Missense(1)	p.V187M(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(559-561)Gtg>Atg		keratin 27							69.0	62.0	64.0					17																	38936677		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936677C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.559G>A	17.37:g.38936677C>T	ENSP00000301656:p.Val187Met		Somatic					p.V187M	NM_181537.3	NP_853515.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y8	K1C27_HUMAN			3	599	-		Breast(137;0.000812)	187			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.559G>A	CCDS11375.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.7	4.445608	0.84101	.	.	ENSG00000171446	ENST00000301656	D	0.82984	-1.67	5.5	5.5	0.81552	Filament (1);	0.000000	0.56097	D	0.000028	D	0.89787	0.6816	M	0.85945	2.785	0.58432	D	0.999999	D	0.56746	0.977	P	0.53006	0.715	D	0.91278	0.5049	10	0.87932	D	0	.	18.7454	0.91791	0.0:1.0:0.0:0.0	.	187	Q7Z3Y8	K1C27_HUMAN	M	187	ENSP00000301656:V187M	ENSP00000301656:V187M	V	-	1	0	KRT27	36190203	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	6.052000	0.71080	2.743000	0.94032	0.655000	0.94253	GTG		0.468	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		7	20	7	20	---	---	---	---
AXL	558	broad.mit.edu	37	19	41758339	41758339	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:41758339A>G	ENST00000301178.4	+	15	1985	c.1795A>G	c.(1795-1797)Agg>Ggg	p.R599G	AXL_ENST00000593513.1_Missense_Mutation_p.R331G|AXL_ENST00000359092.3_Missense_Mutation_p.R590G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAACGTCATGAGGCTCATCGG	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1795-1797)Agg>Ggg		AXL receptor tyrosine kinase							125.0	111.0	115.0					19																	41758339		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41758339A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1795A>G	19.37:g.41758339A>G	ENSP00000301178:p.Arg599Gly		Somatic				AXL_ENST00000359092.3_Missense_Mutation_p.R590G|AXL_ENST00000593513.1_Missense_Mutation_p.R331G	p.R599G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	WXS	Illumina GAIIx	Phase_I	P30530	UFO_HUMAN			15	1985	+			599			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1795A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340617	0.41498	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64085	-0.08;-0.08	4.47	2.29	0.28610	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.31294	0.92	0.45791	D	0.99867	P;P	0.40431	0.669;0.717	B;B	0.36186	0.139;0.219	T	0.39820	-0.9595	10	0.62326	D	0.03	-19.1156	10.313	0.43721	0.6831:0.3169:0.0:0.0	.	590;599	P30530-2;P30530	.;UFO_HUMAN	G	599;590	ENSP00000301178:R599G;ENSP00000351995:R590G	ENSP00000301178:R599G	R	+	1	2	AXL	46450179	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.240000	0.51368	0.215000	0.20761	-0.316000	0.08728	AGG		0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	36	5	36	---	---	---	---
KLK12	43849	broad.mit.edu	37	19	51534119	51534119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:51534119G>T	ENST00000525263.1	-	4	635	c.516C>A	c.(514-516)tgC>tgA	p.C172*	KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250352.11_Nonsense_Mutation_p.C62*|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000391804.3_5'Flank|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACACACCATGGCAGGTGGCAT	0.622																																						ENST00000250352.11																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(184-186)tgC>tgA		kallikrein-related peptidase 12							166.0	151.0	156.0					19																	51534119		2203	4300	6503	SO:0001587	stop_gained	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51534119G>T		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.516C>A	19.37:g.51534119G>T	ENSP00000436458:p.Cys172*		Somatic				KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172*	p.C62*			WXS	Illumina GAIIx	Phase_I	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	4	859	-		all_neural(266;0.026)	172			Peptidase S1.		Q9UKR1|Q9UKR2	Nonsense_Mutation	SNP	ENST00000525263.1	37	c.186C>A	CCDS12821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	37|37	6.435253|6.435253	0.97564|0.97564	.|.	.|.	ENSG00000186474|ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351|ENST00000529888	.|D	.|0.82526	.|-1.62	4.53|4.53	2.34|2.34	0.29019|0.29019	.|.	0.000000|.	0.39020|.	N|.	0.001489|.	.|T	.|0.71871	.|0.3391	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.11329	.|0.006	.|T	.|0.69224	.|-0.5201	.|7	0.02654|0.39692	T|T	1|0.17	.|.	6.6799|6.6799	0.23115|0.23115	0.2991:0.0:0.7009:0.0|0.2991:0.0:0.7009:0.0	.|.	.|86	.|Q9UKR2	.|.	X|T	172;172;62;172|86	.|ENSP00000434036:P86T	ENSP00000250351:C172X|ENSP00000434036:P86T	C|P	-|-	3|1	2|0	KLK12|KLK12	56225931|56225931	0.032000|0.032000	0.19561|0.19561	0.589000|0.589000	0.28718|0.28718	0.018000|0.018000	0.09664|0.09664	-0.014000|-0.014000	0.12656|0.12656	1.131000|1.131000	0.42111|0.42111	0.484000|0.484000	0.47621|0.47621	TGC|CCA		0.622	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		8	121	8	121	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20232251	20232251	+	Silent	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:20232251T>C	ENST00000245957.5	+	20	2248	c.2172T>C	c.(2170-2172)aaT>aaC	p.N724N	C20orf26_ENST00000389656.3_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000377293.1_Silent_p.N80N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		724										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTGTTTTAATGATAAAGATT	0.488																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2170-2172)aaT>aaC		chromosome 20 open reading frame 26							181.0	160.0	167.0					20																	20232251		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20232251T>C																												ENST00000245957.5:c.2172T>C	20.37:g.20232251T>C			Somatic				C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N|C20orf26_ENST00000377293.1_Silent_p.N80N	p.N724N	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2248	+			724					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.2172T>C	CCDS33447.1																																																																																				0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			17	170	17	170	---	---	---	---
IFNB1	3456	broad.mit.edu	37	9	21077860	21077860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:21077860delG	ENST00000380232.2	-	1	83	c.9delC	c.(7-9)aacfs	p.N3fs		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	3					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GGAGACACTTGTTGGTCATGT	0.458																																						ENST00000380232.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(7-9)aacfs		interferon, beta 1, fibroblast	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						37.0	36.0	37.0					9																	21077860		2203	4299	6502	SO:0001589	frameshift_variant	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077860delG		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.9delC	9.37:g.21077860delG	ENSP00000369581:p.Asn3fs		Somatic					p.N3fs	NM_002176.2	NP_002167.1	WXS	Illumina GAIIx	Phase_I	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	83	-			3					Q5VWC9	Frame_Shift_Del	DEL	ENST00000380232.2	37	c.9delC	CCDS6495.1																																																																																				0.458	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		7	32	7	32	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	128003114	128003115	+	Frame_Shift_Del	DEL	AT	AT	-	rs377512653		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:128003114_128003115delAT	ENST00000324460.6	-	2	397_398	c.194_195delAT	c.(193-195)tatfs	p.Y65fs	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TGAAGGCGACATAGGACGGCGT	0.599										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(193-195)tatfs		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128003114_128003115delAT		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.194_195delAT	9.37:g.128003114_128003115delAT	ENSP00000324173:p.Tyr65fs	Prostate(1;0.17)	Somatic					p.Y65fs	NM_005347.4	NP_005338.1	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			2	397_398	-			65					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Frame_Shift_Del	DEL	ENST00000324460.6	37	c.194_195delAT	CCDS6863.1																																																																																				0.599	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			26	60	26	60	---	---	---	---
