#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PGM1	5236	broad.mit.edu	37	1	64089265	64089265	+	Intron	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:64089265A>G	ENST00000371084.3	+	2	459				PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371083.4_Missense_Mutation_p.Y45C	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)	p.Y45C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAGAAAACCTATTATTTTGAG	0.418																																						ENST00000371083.4																			1	Substitution - Missense(1)	p.Y45C(1)	prostate(1)	breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(133-135)tAt>tGt		phosphoglucomutase 1							102.0	103.0	103.0					1																	64089265		876	1991	2867	SO:0001627	intron_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64089265A>G	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.247-5831A>G	1.37:g.64089265A>G						PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron	p.Y45C	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			1	502	+			27					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.134A>G	CCDS625.1	.	.	.	.	.	.	.	.	.	.	A	8.790	0.930407	0.18131	.	.	ENSG00000079739	ENST00000371083	T	0.62941	-0.01	4.83	0.96	0.19631	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.19160	-1.0314	9	0.72032	D	0.01	-39.8945	0.9057	0.01284	0.4735:0.1311:0.1429:0.2526	.	45	P36871-2	.	C	45	ENSP00000360124:Y45C	ENSP00000360124:Y45C	Y	+	2	0	PGM1	63861853	0.000000	0.05858	0.777000	0.31699	0.989000	0.77384	-0.134000	0.10436	0.046000	0.15833	0.455000	0.32223	TAT		0.418	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		29	117	29	117	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576873	158576873	+	Silent	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:158576873C>T	ENST00000361284.1	+	1	645	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T215T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTCATCACCATCTCCTACG	0.537																																						ENST00000361284.1																			1	Substitution - coding silent(1)	p.T215T(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(643-645)acC>acT		olfactory receptor, family 10, subfamily Z, member 1							154.0	139.0	144.0					1																	158576873		2203	4300	6503	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576873C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.645C>T	1.37:g.158576873C>T							p.T215T	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	645	+	all_hematologic(112;0.0378)		215					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.645C>T	CCDS30901.1																																																																																				0.537	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		28	267	28	267	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182550489	182550489	+	Silent	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:182550489G>A	ENST00000367559.3	-	5	2029	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	592	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.		R -> H (in dbSNP:rs35896902). {ECO:0000269|PubMed:17344846}.		cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.R592R(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCGTCCTATAGCGGCTGAAGA	0.413																																						ENST00000367559.3																			2	Substitution - coding silent(2)	p.R592R(2)	prostate(2)	NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1774-1776)cgC>cgT		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							191.0	181.0	185.0					1																	182550489		2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182550489G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1776C>T	1.37:g.182550489G>A						RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R	p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			5	2029	-			592		R -> H (in dbSNP:rs35896902).	KEN.		Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.1776C>T	CCDS1347.1																																																																																				0.413	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		46	187	46	187	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203682293	203682293	+	Splice_Site	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:203682293G>A	ENST00000357681.5	+	14	3335	c.2212G>A	c.(2212-2214)Gta>Ata	p.V738I	ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	738					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.V738I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGTTGGCAGGTAGAGCAAGA	0.502																																						ENST00000357681.5																			2	Substitution - Missense(2)	p.V738I(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2212-2214)Gta>Ata		ATPase, Ca++ transporting, plasma membrane 4							210.0	196.0	201.0					1																	203682293		2203	4300	6503	SO:0001630	splice_region_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203682293G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2212-1G>A	1.37:g.203682293G>A						ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I	p.V738I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	3335	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		738					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Splice_Site	SNP	ENST00000357681.5	37	c.2212G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898334	0.33535	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.2	5.2	0.72013	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.42964	D	0.000637	D	0.93703	0.7988	N	0.11870	0.19	0.80722	D	1	P;B;P	0.43701	0.815;0.006;0.509	P;B;P	0.49332	0.607;0.015;0.507	D	0.92929	0.6362	9	.	.	.	-17.7199	18.3579	0.90364	0.0:0.0:1.0:0.0	.	738;738;738	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	I	738;738;726;738;738	ENSP00000350310:V738I;ENSP00000356187:V738I;ENSP00000356188:V726I;ENSP00000375816:V738I;ENSP00000340930:V738I	.	V	+	1	0	ATP2B4	201948916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.842000	0.48230	2.429000	0.82318	0.650000	0.86243	GTA		0.502	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	Missense_Mutation	34	153	34	153	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915655	48915655	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:48915655A>T	ENST00000294954.7	-	11	1302	c.1281T>A	c.(1279-1281)taT>taA	p.Y427*	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	427					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.Y427*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCATGGTTATAGTACTGGC	0.493																																						ENST00000294954.7																			1	Substitution - Nonsense(1)	p.Y427*(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1279-1281)taT>taA		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						70.0	61.0	64.0					2																	48915655		2203	4300	6503	SO:0001587	stop_gained	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915655A>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1281T>A	2.37:g.48915655A>T	ENSP00000294954:p.Tyr427*					STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*	p.Y427*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1302	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	427					Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	ENST00000294954.7	37	c.1281T>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470789	0.84533	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	.	.	.	5.91	-0.291	0.12843	.	0.366463	0.32852	N	0.005567	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5718	0.45204	0.4775:0.0:0.5225:0.0	.	.	.	.	X	365;427;400	.	.	Y	-	3	2	LHCGR	48769159	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	1.151000	0.31651	-0.057000	0.13199	0.533000	0.62120	TAT		0.493	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		12	94	12	94	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693166	187693166	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:187693166A>T	ENST00000295131.2	-	9	1486	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	483					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L483I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCATAGGTTAATTTTTTTGAA	0.318																																						ENST00000295131.2																			1	Substitution - Missense(1)	p.L483I(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(1447-1449)Tta>Ata		zinc finger, SWIM-type containing 2							36.0	42.0	40.0					2																	187693166		2203	4298	6501	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693166A>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1447T>A	2.37:g.187693166A>T	ENSP00000295131:p.Leu483Ile						p.L483I	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1486	-			483					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1447T>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	4.231	0.041808	0.08196	.	.	ENSG00000163012	ENST00000295131	T	0.26223	1.75	5.07	-0.107	0.13592	.	1.077030	0.07240	N	0.864021	T	0.17746	0.0426	L	0.42245	1.32	0.09310	N	1	P	0.37781	0.608	B	0.30105	0.111	T	0.18398	-1.0338	10	0.32370	T	0.25	8.0E-4	6.54	0.22375	0.4795:0.3709:0.1496:0.0	.	483	Q8NEG5	ZSWM2_HUMAN	I	483	ENSP00000295131:L483I	ENSP00000295131:L483I	L	-	1	2	ZSWIM2	187401411	0.108000	0.22018	0.163000	0.22734	0.023000	0.10783	0.266000	0.18534	-0.447000	0.07138	-1.795000	0.00624	TTA		0.318	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		17	85	17	85	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029070	79029070	+	Silent	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:79029070A>G	ENST00000446378.2	+	2	4513	c.4482A>G	c.(4480-4482)aaA>aaG	p.K1494K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1494					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K1494K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAGACAAACAAGATCTTT	0.403																																						ENST00000446378.2																			2	Substitution - coding silent(2)	p.K1494K(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4480-4482)aaA>aaG		cardiomyopathy associated 5							123.0	118.0	119.0					5																	79029070		1853	4095	5948	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79029070A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4482A>G	5.37:g.79029070A>G							p.K1494K	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4513	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1494					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.4482A>G	CCDS47238.1																																																																																				0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		13	213	13	213	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:140604725C>G	ENST00000239449.4	+	1	1648	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCGTGCTGGTGCTGGA	0.716																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1648-1650)Ctg>Gtg									33.0	36.0	35.0					5																	140604725		2202	4297	6499	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604725C>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1648C>G	5.37:g.140604725C>G	ENSP00000239449:p.Leu550Val					PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	p.L550V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1648	+			550			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1648C>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.019	-1.449387	0.01080	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01685	4.69;4.69	4.15	-1.52	0.08637	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.00695	0.0023	N	0.01267	-0.92	0.09310	N	1	B	0.13145	0.007	B	0.17979	0.02	T	0.47484	-0.9114	9	0.09084	T	0.74	.	7.1111	0.25390	0.1345:0.6339:0.1362:0.0954	.	550	Q9Y5E9	PCDBE_HUMAN	V	397;550	ENSP00000444518:L397V;ENSP00000239449:L550V	ENSP00000239449:L550V	L	+	1	2	PCDHB14	140584909	0.000000	0.05858	0.270000	0.24601	0.959000	0.62525	-3.811000	0.00360	-0.286000	0.09076	-0.321000	0.08615	CTG		0.716	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		5	79	5	79	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807837	100807837	+	Silent	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:100807837G>A	ENST00000249330.2	-	2	527	c.288C>T	c.(286-288)ccC>ccT	p.P96P	VGF_ENST00000445482.2_Silent_p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	96					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.P96P(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGTGCCGGGGGTGAGGCGG	0.716																																						ENST00000249330.2																			1	Substitution - coding silent(1)	p.P96P(1)	prostate(1)	cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9						c.(286-288)ccC>ccT		VGF nerve growth factor inducible							8.0	9.0	9.0					7																	100807837		2094	4141	6235	SO:0001819	synonymous_variant	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807837G>A	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.288C>T	7.37:g.100807837G>A						VGF_ENST00000445482.2_Silent_p.P96P	p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN			2	527	-	Lung NSC(181;0.168)|all_lung(186;0.215)		96					Q9UDW8	Silent	SNP	ENST00000249330.2	37	c.288C>T	CCDS5712.1																																																																																				0.716	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		4	21	4	21	---	---	---	---
TNFRSF11B	4982	broad.mit.edu	37	8	119945484	119945484	+	Missense_Mutation	SNP	A	A	C	rs144062067	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:119945484A>C	ENST00000297350.4	-	2	464	c.86T>G	c.(85-87)cTt>cGt	p.L29R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	29					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.L29R(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTCATAATGAAGGTACTTTGG	0.443																																						ENST00000297350.4																			2	Substitution - Missense(2)	p.L29R(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(85-87)cTt>cGt		tumor necrosis factor receptor superfamily, member 11b							227.0	216.0	220.0					8																	119945484		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945484A>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.86T>G	8.37:g.119945484A>C	ENSP00000297350:p.Leu29Arg						p.L29R	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	464	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		29					B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.86T>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	A	8.058	0.767592	0.15983	.	.	ENSG00000164761	ENST00000297350	T	0.71698	-0.59	6.17	6.17	0.99709	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.326569	0.32416	N	0.006136	T	0.58722	0.2142	L	0.37750	1.13	0.41109	D	0.985725	B	0.27013	0.166	B	0.25405	0.06	T	0.56123	-0.8031	9	.	.	.	-22.2212	10.4761	0.44665	0.9279:0.0:0.0721:0.0	.	29	O00300	TR11B_HUMAN	R	29	ENSP00000297350:L29R	.	L	-	2	0	TNFRSF11B	120014665	1.000000	0.71417	0.995000	0.50966	0.268000	0.26511	1.175000	0.31944	2.371000	0.80710	0.533000	0.62120	CTT		0.443	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			36	165	36	165	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172250	94172250	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr9:94172250G>C	ENST00000297689.3	-	2	1161	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S256*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGGAGAGTGTGAGTACCCAGA	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			1	Substitution - Nonsense(1)	p.S256*(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(766-768)tCa>tGa		nuclear factor, interleukin 3 regulated							126.0	128.0	127.0					9																	94172250		2203	4300	6503	SO:0001587	stop_gained	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172250G>C	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.767C>G	9.37:g.94172250G>C	ENSP00000297689:p.Ser256*						p.S256*	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	1161	-			256					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Nonsense_Mutation	SNP	ENST00000297689.3	37	c.767C>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410132	0.97546	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.43	4.43	0.53597	.	0.295585	0.27797	N	0.017812	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.9189	17.2471	0.87031	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000297689:S256X	S	-	2	0	NFIL3	93212071	1.000000	0.71417	0.027000	0.17364	0.103000	0.19146	8.852000	0.92215	2.318000	0.78349	0.561000	0.74099	TCA		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		28	187	28	187	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:24820812C>A	ENST00000376454.3	+	15	3166	c.3136C>A	c.(3136-3138)Cct>Act	p.P1046T	KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.P729T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000430453.2_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1046					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P1046T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGTCGCCCCCTCCTCCTCC	0.517																																						ENST00000376451.2																			2	Substitution - Missense(2)	p.P1046T(2)	prostate(1)|lung(1)	breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2185-2187)Cct>Act		KIAA1217							44.0	42.0	43.0					10																	24820812		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820812C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3136C>A	10.37:g.24820812C>A	ENSP00000365637:p.Pro1046Thr					KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T	p.P729T			Q5T5P2	SKT_HUMAN			10	2445	+			1046					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2185C>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260801	0.80246	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.48	5.48	0.80851	.	0.114107	0.64402	D	0.000011	T	0.66187	0.2764	L	0.59436	1.845	0.49582	D	0.999806	P;D;P;P;D;D;D;D	0.89917	0.926;0.978;0.887;0.843;0.98;0.965;1.0;1.0	B;P;P;P;P;P;D;D	0.91635	0.437;0.754;0.558;0.487;0.758;0.487;0.999;0.999	T	0.63739	-0.6569	10	0.45353	T	0.12	.	17.8959	0.88888	0.0:1.0:0.0:0.0	.	1011;1010;729;729;729;729;1046;1046	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	966;1011;729;1046;1010;729;729;729;729;729	ENSP00000365645:P966T;ENSP00000392625:P1011T;ENSP00000365637:P1046T;ENSP00000365635:P1010T;ENSP00000302343:P729T;ENSP00000379722:P729T;ENSP00000365634:P729T;ENSP00000379723:P729T	ENSP00000302343:P729T	P	+	1	0	KIAA1217	24860818	0.999000	0.42202	0.726000	0.30738	0.932000	0.56968	5.492000	0.66893	2.749000	0.94314	0.655000	0.94253	CCT		0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	55	3	55	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75565719	75565719	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:75565719G>A	ENST00000309979.6	-	7	2058	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.S501F			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	501	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.S501F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TAGTTCACGAGAGCCTCCAGG	0.507																																						ENST00000603027.1																			1	Substitution - Missense(1)	p.S501F(1)	prostate(1)								c.(1501-1503)tCt>tTt									75.0	80.0	78.0					10																	75565719		2203	4300	6503	SO:0001583	missense	8509							g.chr10:75565719G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1502C>T	10.37:g.75565719G>A	ENSP00000310657:p.Ser501Phe					NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|NDST2_ENST00000309979.6_Missense_Mutation_p.S501F	p.S501F							7	2125	-			501					Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1502C>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225890	0.79576	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.44482	1.23;0.92	5.95	5.95	0.96441	.	0.101452	0.64402	D	0.000001	T	0.50599	0.1625	N	0.20530	0.585	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.987	D;P;D	0.68192	0.956;0.905;0.934	T	0.37361	-0.9709	10	0.25106	T	0.35	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	378;171;501	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	F	501;378	ENSP00000310657:S501F;ENSP00000299641:S378F	ENSP00000299641:S378F	S	-	2	0	NDST2	75235725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.790000	0.99075	2.825000	0.97269	0.655000	0.94253	TCT		0.507	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		34	129	34	129	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7640278	7640278	+	Intron	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:7640278A>G	ENST00000359156.4	-	8	1938				CD163_ENST00000541972.1_Intron|CD163_ENST00000396620.3_Missense_Mutation_p.L609P|CD163_ENST00000432237.2_Intron|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TCCTGGAAGGAGACAGGGCTT	0.488																																						ENST00000396620.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1825-1827)cTc>cCc		CD163 molecule							70.0	72.0	71.0					12																	7640278		2203	4300	6503	SO:0001627	intron_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640278A>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1736-9T>C	12.37:g.7640278A>G						CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron	p.L609P			Q86VB7	C163A_HUMAN			7	1911	-			579			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1826T>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	6.348	0.432310	0.12045	.	.	ENSG00000177575	ENST00000396620	T	0.01234	5.13	5.21	4.07	0.47477	.	.	.	.	.	T	0.02418	0.0074	.	.	.	0.80722	D	1	P	0.49961	0.93	P	0.48030	0.564	T	0.64626	-0.6363	7	.	.	.	.	9.2288	0.37423	0.913:0.0:0.087:0.0	.	609	C9JHR8	.	P	609	ENSP00000379863:L609P	.	L	-	2	0	CD163	7531545	0.001000	0.12720	0.787000	0.31911	0.549000	0.35272	1.367000	0.34204	0.933000	0.37291	0.533000	0.62120	CTC		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		40	145	40	145	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104487302	104487302	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:104487302C>T	ENST00000229330.4	+	10	1527	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	475					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.H475Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTCTAATCATAATAGTCA	0.323																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - Missense(1)	p.H475Y(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1423-1425)Cat>Tat		host cell factor C2							77.0	76.0	77.0					12																	104487302		2203	4299	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487302C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1423C>T	12.37:g.104487302C>T	ENSP00000229330:p.His475Tyr					HCFC2_ENST00000550335.1_3'UTR	p.H475Y	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			10	1527	+			475					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1423C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263431	0.39995	.	.	ENSG00000111727	ENST00000229330	T	0.01629	4.72	5.49	3.48	0.39840	Fibronectin, type III (2);	0.716541	0.14072	N	0.343300	T	0.01287	0.0042	N	0.08118	0	0.25848	N	0.983971	B	0.28291	0.206	B	0.23018	0.043	T	0.48625	-0.9019	10	0.54805	T	0.06	-7.9068	10.3879	0.44152	0.3694:0.6306:0.0:0.0	.	475	Q9Y5Z7	HCFC2_HUMAN	Y	475	ENSP00000229330:H475Y	ENSP00000229330:H475Y	H	+	1	0	HCFC2	103011432	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	0.756000	0.26419	1.397000	0.46682	0.591000	0.81541	CAT		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		17	98	17	98	---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81993164	81993164	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993164C>T	ENST00000336735.4	-	3	369	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGACACTTTCCCCCTCTTGG	0.418																																						ENST00000336735.4																			1	Substitution - Missense(1)	p.E85K(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(253-255)Gaa>Aaa		sel-1 suppressor of lin-12-like (C. elegans)							187.0	191.0	190.0					14																	81993164		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81993164C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.253G>A	14.37:g.81993164C>T	ENSP00000337053:p.Glu85Lys					SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	3	369	-			85			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.253G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859944	0.51482	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	T;T;T	0.45668	1.63;1.37;0.89	6.07	5.19	0.71726	.	0.177256	0.39687	N	0.001292	T	0.29945	0.0749	N	0.19112	0.55	0.26233	N	0.978989	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.24584	-1.0156	10	0.59425	D	0.04	-13.6587	12.8177	0.57675	0.0:0.9235:0.0:0.0765	.	85;85	Q9UBV2;Q9UBV2-2	SE1L1_HUMAN;.	K	85	ENSP00000337053:E85K;ENSP00000450709:E85K;ENSP00000451144:E85K	ENSP00000337053:E85K	E	-	1	0	SEL1L	81062917	0.189000	0.23263	0.394000	0.26270	0.926000	0.56050	1.890000	0.39728	1.578000	0.49821	0.655000	0.94253	GAA		0.418	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		10	316	10	316	---	---	---	---
IGHV1-58	28464	broad.mit.edu	37	14	107078542	107078542	+	RNA	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:107078542C>A	ENST00000390628.2	-	0	242									immunoglobulin heavy variable 1-58																		AAGGCGTTGTCCACGAGCCTG	0.532																																						ENST00000390628.2																			0																				73.0	83.0	80.0					14																	107078542		2041	4200	6241			28464							g.chr14:107078542C>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078542C>A														0	242	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.532	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		4	28	4	28	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99482581	99482581	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr15:99482581A>G	ENST00000268035.6	+	18	4060	c.3449A>G	c.(3448-3450)aAa>aGa	p.K1150R	IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.K1150R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTCACAGTCAAAATCGGAGGT	0.498																																						ENST00000268035.6																			2	Substitution - Missense(2)	p.K1150R(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3448-3450)aAa>aGa		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						144.0	135.0	138.0					15																	99482581		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99482581A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3449A>G	15.37:g.99482581A>G	ENSP00000268035:p.Lys1150Arg					IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	p.K1150R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		18	4060	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1150			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3449A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	32	5.120128	0.94385	.	.	ENSG00000140443	ENST00000268035	D	0.93488	-3.23	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	D	0.95903	0.8666	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96326	0.9240	10	0.87932	D	0	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	1149;1150	C9J5X1;P08069	.;IGF1R_HUMAN	R	1150	ENSP00000268035:K1150R	ENSP00000268035:K1150R	K	+	2	0	IGF1R	97300104	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	9.305000	0.96197	2.264000	0.75181	0.533000	0.62120	AAA		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		36	160	36	160	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81095725	81095725	+	Missense_Mutation	SNP	T	T	C	rs17855893		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr16:81095725T>C	ENST00000299578.5	-	4	464	c.229A>G	c.(229-231)Act>Gct	p.T77A	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.T77A|C16orf46_ENST00000444657.3_5'UTR	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	77			T -> S (in dbSNP:rs17855893). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T77A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTGGAGAAGTCCTTCCCCAC	0.552																																						ENST00000378611.4																			1	Substitution - Missense(1)	p.T77A(1)	prostate(1)	NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(229-231)Act>Gct		chromosome 16 open reading frame 46							87.0	85.0	85.0					16																	81095725		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095725T>C	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.229A>G	16.37:g.81095725T>C	ENSP00000299578:p.Thr77Ala					C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A|RP11-303E16.8_ENST00000564536.1_RNA	p.T77A	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	344	-			77		T -> S (in dbSNP:rs17855893).			Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.229A>G	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	T	0.460	-0.889655	0.02511	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.15834	2.39;2.39	5.61	0.652	0.17823	.	0.805608	0.11286	N	0.579786	T	0.08223	0.0205	N	0.12746	0.255	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.15484	0.013;0.013	T	0.42932	-0.9422	10	0.12766	T	0.61	.	8.4395	0.32808	0.0:0.4149:0.0:0.5851	.	77;77	Q6P387-2;Q6P387	.;CP046_HUMAN	A	77	ENSP00000367874:T77A;ENSP00000299578:T77A	ENSP00000299578:T77A	T	-	1	0	C16orf46	79653226	0.013000	0.17824	0.002000	0.10522	0.265000	0.26407	0.502000	0.22594	0.093000	0.17368	-0.400000	0.06385	ACT		0.552	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		29	100	29	100	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34147368	34147368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:34147368C>T	ENST00000588240.1	+	5	332	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*|TAF15_ENST00000592237.1_5'UTR|AC015849.19_ENST00000588415.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q73*(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATGAGAATCAAAAGCAGAG	0.348			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	1	Substitution - Nonsense(1)	p.Q73*(1)	prostate(1)	lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(217-219)Caa>Taa		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							103.0	104.0	104.0					17																	34147368		2203	4300	6503	SO:0001587	stop_gained	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34147368C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.217C>T	17.37:g.34147368C>T	ENSP00000466950:p.Gln73*					AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*	p.Q73*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	5	332	+		Ovarian(249;0.17)	73			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Nonsense_Mutation	SNP	ENST00000588240.1	37	c.217C>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701833	0.96812	.	.	ENSG00000172660	ENST00000311979	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.6838	16.0949	0.81114	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000309558:Q73X	Q	+	1	0	TAF15	31171481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.067000	0.50010	2.873000	0.98535	0.563000	0.77884	CAA		0.348	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		16	73	16	73	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732290	74732291	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732290_74732291TC>AA	ENST00000392485.2	-	2	790_791	c.618_619GA>TT	c.(616-621)tcGAag>tcTTag	p.K207*	MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	207	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.S186S(1)|p.S206S(1)|p.K187*(1)|p.K207*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGGACTCTTCGATCGCGACC	0.55			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		4	Substitution - Nonsense(2)|Substitution - coding silent(2)	p.K187*(1)|p.K207*(1)|p.S186S(1)|p.S206S(1)	prostate(4)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(619-621)Aag>Tag|c.(616-618)tcG>tcT		serine/arginine-rich splicing factor 2																																				SO:0001587	stop_gained	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732290T>A|g.chr17:74732291C>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.618_619delinsAA	17.37:g.74732290_74732291delinsAA	ENSP00000376276:p.Lys207*					MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.S206S|SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron	p.K207*|p.S206S	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	791|790	-			207|206			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Nonsense_Mutation|Silent	SNP	ENST00000392485.2	37	c.619A>T|c.618G>T	CCDS11749.1																																																																																				0.550	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		5|6	175	5	175	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19116092	19116092	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr18:19116092G>C	ENST00000269214.5	-	10	3035	c.2098C>G	c.(2098-2100)Cta>Gta	p.L700V		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	700					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.L700V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TAGCACATTAGTGGAGCCTGT	0.333																																						ENST00000269214.5																			1	Substitution - Missense(1)	p.L700V(1)	prostate(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2098-2100)Cta>Gta		establishment of sister chromatid cohesion N-acetyltransferase 1							127.0	124.0	125.0					18																	19116092		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19116092G>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2098C>G	18.37:g.19116092G>C	ENSP00000269214:p.Leu700Val						p.L700V	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			10	3035	-			700					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.2098C>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168062	0.38315	.	.	ENSG00000141446	ENST00000269214	T	0.59638	0.25	5.54	2.62	0.31277	.	0.442375	0.23310	N	0.049566	T	0.41511	0.1162	L	0.46157	1.445	0.30637	N	0.756825	P	0.44044	0.825	B	0.35655	0.207	T	0.41305	-0.9516	10	0.30854	T	0.27	-16.4415	6.2581	0.20885	0.2349:0.1324:0.6327:0.0	.	700	Q5FWF5	ESCO1_HUMAN	V	700	ENSP00000269214:L700V	ENSP00000269214:L700V	L	-	1	2	ESCO1	17370090	0.991000	0.36638	0.983000	0.44433	0.989000	0.77384	1.574000	0.36482	0.308000	0.22923	0.591000	0.81541	CTA		0.333	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		44	170	44	170	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602358	10602358	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10602358G>A	ENST00000171111.5	-	3	1767	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	407					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.A407V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCTCATGGGGGCGCAGGGCGA	0.652																																						ENST00000171111.5																			1	Substitution - Missense(1)	p.A407V(1)	prostate(1)	breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1219-1221)gCc>gTc		kelch-like ECH-associated protein 1							34.0	29.0	31.0					19																	10602358		2202	4300	6502	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602358G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1220C>T	19.37:g.10602358G>A	ENSP00000171111:p.Ala407Val					KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V	p.A407V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1767	-			407					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1220C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683522	0.68157	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80304	-1.36;-1.36	5.77	4.74	0.60224	Kelch-type beta propeller (1);	0.048152	0.85682	D	0.000000	T	0.78426	0.4281	M	0.83012	2.62	0.54753	D	0.99998	P	0.47191	0.891	B	0.37144	0.242	T	0.77678	-0.2498	10	0.23302	T	0.38	.	12.531	0.56115	0.0804:0.0:0.9196:0.0	.	407	Q14145	KEAP1_HUMAN	V	407	ENSP00000171111:A407V;ENSP00000377245:A407V	ENSP00000171111:A407V	A	-	2	0	KEAP1	10463358	1.000000	0.71417	0.956000	0.39512	0.945000	0.59286	6.544000	0.73878	1.464000	0.47987	0.655000	0.94253	GCC		0.652	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		5	17	5	17	---	---	---	---
IZUMO2	126123	broad.mit.edu	37	19	50662822	50662822	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:50662822T>C	ENST00000293405.3	-	3	323	c.323A>G	c.(322-324)gAa>gGa	p.E108G		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	108						integral component of membrane (GO:0016021)		p.E108G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACCAGCTCTTCCAGCAGAGG	0.493																																						ENST00000293405.3																			1	Substitution - Missense(1)	p.E108G(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(322-324)gAa>gGa		IZUMO family member 2							67.0	64.0	65.0					19																	50662822		1859	4106	5965	SO:0001583	missense	126123					integral to membrane		g.chr19:50662822T>C	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.323A>G	19.37:g.50662822T>C	ENSP00000293405:p.Glu108Gly						p.E108G	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			3	323	-			108					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.323A>G	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502368	0.64298	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.25749	1.78	4.37	4.37	0.52481	.	0.138526	0.33515	N	0.004840	T	0.30230	0.0758	L	0.29908	0.895	0.31825	N	0.625485	D	0.57257	0.979	P	0.56563	0.801	T	0.27971	-1.0058	10	0.72032	D	0.01	.	10.2326	0.43264	0.0:0.0:0.0:1.0	.	108	Q6UXV1	IZUM2_HUMAN	G	108	ENSP00000293405:E108G	ENSP00000293405:E108G	E	-	2	0	IZUMO2	55354634	0.993000	0.37304	0.967000	0.41034	0.754000	0.42855	3.390000	0.52523	2.191000	0.70037	0.459000	0.35465	GAA		0.493	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		9	87	9	87	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56244522	56244522	+	Missense_Mutation	SNP	G	G	T	rs371034160		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:56244522G>T	ENST00000332836.2	-	2	702	c.675C>A	c.(673-675)ttC>ttA	p.F225L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	225	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.F225L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATCCATGATGAACAGAATTC	0.483																																						ENST00000332836.2																			1	Substitution - Missense(1)	p.F225L(1)	prostate(1)	NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(673-675)ttC>ttA		NLR family, pyrin domain containing 9							34.0	35.0	35.0					19																	56244522		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244522G>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.675C>A	19.37:g.56244522G>T	ENSP00000331857:p.Phe225Leu						p.F225L	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	702	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	225			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.675C>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246912	0.22796	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52754	0.65	2.46	0.245	0.15512	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44030	0.1274	L	0.41961	1.31	0.30541	N	0.766429	P	0.45011	0.848	P	0.50825	0.651	T	0.48139	-0.9061	9	0.66056	D	0.02	.	3.0358	0.06122	0.2788:0.2368:0.4844:0.0	.	225	Q7RTR0	NALP9_HUMAN	L	225	ENSP00000331857:F225L	ENSP00000331857:F225L	F	-	3	2	NLRP9	60936334	0.998000	0.40836	0.008000	0.14137	0.010000	0.07245	0.613000	0.24299	0.160000	0.19432	-0.162000	0.13425	TTC		0.483	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		5	48	5	48	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31424469	31424469	+	Silent	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:31424469A>G	ENST00000375571.5	+	4	436	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.G99G(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TAGTAAAAGGAAAGTTTCAGG	0.398																																						ENST00000375571.5																			1	Substitution - coding silent(1)	p.G99G(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(295-297)ggA>ggG		microtubule-associated protein, RP/EB family, member 1							54.0	55.0	55.0					20																	31424469		2203	4300	6503	SO:0001819	synonymous_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31424469A>G	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.297A>G	20.37:g.31424469A>G							p.G99G	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			4	436	+			99			CH.		B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	c.297A>G	CCDS13208.1																																																																																				0.398	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		13	73	13	73	---	---	---	---
HDAC6	10013	broad.mit.edu	37	X	48674947	48674948	+	Missense_Mutation	DNP	TG	TG	GC			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674947_48674948TG>GC	ENST00000334136.5	+	19	1876_1877	c.1698_1699TG>GC	c.(1696-1701)ttTGac>ttGCac	p.566_567FD>LH	HDAC6_ENST00000376619.2_Missense_Mutation_p.566_567FD>LH|HDAC6_ENST00000444343.2_Missense_Mutation_p.580_581FD>LH			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	566	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.F566L(1)|p.D567Y(1)|p.D567H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTTCCAACTTTGACTCCATCTA	0.594																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			3	Substitution - Missense(3)	p.F566L(1)|p.D567Y(1)|p.D567H(1)	prostate(2)|breast(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1696-1698)ttT>ttG|c.(1699-1701)Gac>Cac		histone deacetylase 6	Vorinostat(DB02546)																																			SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48674947T>G|g.chrX:48674948G>C	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	Exception_encountered	X.37:g.48674947_48674948delinsGC	ENSP00000334061:p.F566_D567delinsLH					HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L|HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L|HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H|HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H	p.F566L|p.D567H			Q9UBN7	HDAC6_HUMAN			19	1876|1877	+			566|567			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1698T>G|c.1699G>C	CCDS14306.1																																																																																				0.594	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		16	22|21	16	21	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227661593	227661593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:227661593delG	ENST00000305123.5	-	1	2882	c.1862delC	c.(1861-1863)ccafs	p.P621fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	621					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGGGCACTGGGGCCACCCC	0.632											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.5																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1861-1863)ccafs		insulin receptor substrate 1							61.0	58.0	59.0					2																	227661593		2203	4300	6503	SO:0001589	frameshift_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661593delG		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1862delC	2.37:g.227661593delG	ENSP00000304895:p.Pro621fs		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.P621fs	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2882	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)							Frame_Shift_Del	DEL	ENST00000305123.5	37	c.1862delC	CCDS2463.1																																																																																				0.632	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		21	98	21	98	---	---	---	---
P2RX5	5026	broad.mit.edu	37	17	3595042	3595042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:3595042delG	ENST00000225328.5	-	2	582	c.184delC	c.(184-186)ctgfs	p.L62fs	P2RX5-TAX1BP3_ENST00000550383.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000550772.1_5'Flank|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	62					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCACTCTGCAGGGAGGTGTCG	0.592																																						ENST00000550383.1																			0											c.(184-186)ctgfs									184.0	158.0	167.0					17																	3595042		2203	4300	6503	SO:0001589	frameshift_variant	100533970							g.chr17:3595042delG	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.184delC	17.37:g.3595042delG	ENSP00000225328:p.Leu62fs					P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs	p.L62fs							2	372	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Frame_Shift_Del	DEL	ENST00000225328.5	37	c.184delC	CCDS11034.1																																																																																				0.592	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		39	215	39	215	---	---	---	---
