#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HIVEP3	59269	broad.mit.edu	37	1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:41978662G>A	ENST00000372583.1	-	8	7115	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000372584.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6229-6231)gCc>gTc		human immunodeficiency virus type I enhancer binding protein 3							33.0	30.0	31.0					1																	41978662		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978662G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6230C>T	1.37:g.41978662G>A	ENSP00000361664:p.Ala2077Val		Somatic				HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V	p.A2077V	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			7	7244	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2077			6 X 4 AA tandem repeats of S-P-X-[RK].		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6230C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570604	0.86542	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.65	4.65	0.58169	.	0.465044	0.18293	N	0.145668	T	0.05960	0.0155	N	0.24115	0.695	0.38023	D	0.934924	P;P	0.40731	0.728;0.608	B;B	0.36186	0.219;0.109	T	0.49263	-0.8958	10	0.40728	T	0.16	-3.7875	17.4682	0.87639	0.0:0.0:1.0:0.0	.	2077;2077	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	2077	ENSP00000361665:A2077V;ENSP00000361664:A2077V;ENSP00000247584:A2077V;ENSP00000410828:A2077V	ENSP00000247584:A2077V	A	-	2	0	HIVEP3	41751249	0.995000	0.38212	0.997000	0.53966	0.977000	0.68977	3.387000	0.52501	2.267000	0.75376	0.655000	0.94253	GCC		0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		3	43	3	43	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:158057909G>T	ENST00000359209.6	+	7	948	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000368172.1_Missense_Mutation_p.G92V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(274-276)gGa>gTa		kin of IRRE like (Drosophila)							136.0	143.0	141.0					1																	158057909		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057909G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.881G>T	1.37:g.158057909G>T	ENSP00000352138:p.Gly294Val		Somatic	OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V	p.G92V			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			3	287	+	all_hematologic(112;0.0378)		294			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.275G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647837	0.87958	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.44	5.44	0.79542	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000490	T	0.59032	0.2164	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.997	T	0.72374	-0.4313	10	0.87932	D	0	-37.4022	16.7618	0.85514	0.0:0.0:1.0:0.0	.	194;130;92;294	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	V	130;294;191;294;194;92	ENSP00000353202:G130V;ENSP00000357155:G294V;ENSP00000376098:G191V;ENSP00000352138:G294V;ENSP00000389674:G194V;ENSP00000357154:G92V	ENSP00000352138:G294V	G	+	2	0	KIRREL	156324533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GGA		0.522	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		7	253	7	253	---	---	---	---
CAMKMT	79823	broad.mit.edu	37	2	44933479	44933479	+	Splice_Site	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.491T>G	c.(490-492)aTg>aGg	p.M164R		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(490-492)aTg>aGg		calmodulin-lysine N-methyltransferase							165.0	149.0	154.0					2																	44933479		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44933479T>G		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.492+1T>G	2.37:g.44933479T>G			Somatic					p.M164R	NM_024766.4	NP_079042.1	WXS	Illumina GAIIx	Phase_I	Q7Z624	CMKMT_HUMAN			5	535	+			164					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37	c.491T>G	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578180	0.45902	.	.	ENSG00000143919	ENST00000378494	T	0.09817	2.94	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.00617	-1.1642	10	0.42905	T	0.14	-12.4282	15.0951	0.72226	0.0:0.0:0.0:1.0	.	164	Q7Z624	CMKMT_HUMAN	R	164	ENSP00000367755:M164R	ENSP00000367755:M164R	M	+	2	0	CAMKMT	44786983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.535000	0.67173	2.135000	0.66039	0.533000	0.62120	ATG		0.483	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Missense_Mutation	5	155	5	155	---	---	---	---
CLIC1	1192	broad.mit.edu	37	6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(124-126)Aat>Cat		chloride intracellular channel 1							126.0	95.0	105.0					6																	31701956		2203	4300	6503	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701956T>G	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.124A>C	6.37:g.31701956T>G	ENSP00000364935:p.Asn42His		Somatic				CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H	p.N42H			WXS	Illumina GAIIx	Phase_I	O00299	CLIC1_HUMAN			3	696	-			42			Required for insertion into the membrane.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.124A>C	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479018	0.84747	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	Thioredoxin-like fold (2);	0.065732	0.64402	U	0.000016	T	0.39937	0.1097	L	0.52905	1.665	0.54753	D	0.999987	P	0.47962	0.903	P	0.51135	0.66	T	0.41233	-0.9520	10	0.72032	D	0.01	-17.7378	13.6344	0.62215	0.0:0.0:0.0:1.0	.	42	O00299	CLIC1_HUMAN	H	42	ENSP00000364940:N42H;ENSP00000364934:N42H;ENSP00000364935:N42H;ENSP00000379229:N42H	ENSP00000364934:N42H	N	-	1	0	CLIC1	31809935	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.805000	0.69143	2.116000	0.64780	0.482000	0.46254	AAT		0.517	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		3	63	3	63	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117248236	117248236	+	Silent	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:117248236C>A	ENST00000332958.2	+	17	1948	c.1932C>A	c.(1930-1932)ccC>ccA	p.P644P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	644					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGACACCACCCATTTCTCCAG	0.488																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1930-1932)ccC>ccA		regulatory factor X, 6							108.0	106.0	107.0					6																	117248236		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248236C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1932C>A	6.37:g.117248236C>A			Somatic					p.P644P	NM_173560.3	NP_775831.2	WXS	Illumina GAIIx	Phase_I	Q8HWS3	RFX6_HUMAN			17	1948	+			644					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1932C>A	CCDS5113.1																																																																																				0.488	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		5	182	5	182	---	---	---	---
PPP3CC	5533	broad.mit.edu	37	8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383																																						ENST00000240139.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(529-531)aCa>aAa		protein phosphatase 3, catalytic subunit, gamma isozyme							214.0	182.0	193.0					8																	22368644		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22368644C>A		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.530C>A	8.37:g.22368644C>A	ENSP00000240139:p.Thr177Lys		Somatic				PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	p.T177K	NM_005605.4	NP_005596.2	WXS	Illumina GAIIx	Phase_I	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	5	857	+		Prostate(55;0.104)	177					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.530C>A	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438428|4.438428	0.83885|0.83885	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000523620	.|T;T;T;T;T	.|0.05580	.|3.42;3.42;3.42;3.42;3.42	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.047960	.|0.85682	.|D	.|0.000000	T|T	0.19644|0.19644	0.0472|0.0472	M|M	0.87900|0.87900	2.915|2.915	0.53688|0.53688	D|D	0.999972|0.999972	.|P;P;P;B	.|0.37612	.|0.602;0.547;0.602;0.415	.|B;B;B;B	.|0.41571	.|0.222;0.36;0.222;0.142	T|T	0.00458|0.00458	-1.1727|-1.1727	5|10	.|0.87932	.|D	.|0	-15.5783|-15.5783	19.3283|19.3283	0.94273|0.94273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;177;177;177	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	N|K	27;54|177;177;177;177;3	.|ENSP00000429379:T177K;ENSP00000240139:T177K;ENSP00000289963:T177K;ENSP00000380878:T177K;ENSP00000430555:T3K	.|ENSP00000240139:T177K	H|T	+|+	1|2	0|0	PPP3CC|PPP3CC	22424589|22424589	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.383	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		5	122	5	122	---	---	---	---
NUDT2	318	broad.mit.edu	37	9	34343327	34343327	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557																																					Melanoma(95;1683 1957 4276 39813)	ENST00000379158.2																			0				lung(3)	3						c.(331-333)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 2							56.0	55.0	55.0					9																	34343327		2203	4300	6503	SO:0001819	synonymous_variant	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343327C>T	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.333C>T	9.37:g.34343327C>T			Somatic				NUDT2_ENST00000379155.5_Silent_p.H111H|NUDT2_ENST00000346365.4_Silent_p.H111H	p.H111H	NM_001161.4	NP_001152.1	WXS	Illumina GAIIx	Phase_I	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	691	+			111			Nudix hydrolase.		D3DRM0|Q5T589	Silent	SNP	ENST00000379158.2	37	c.333C>T	CCDS6552.1																																																																																				0.557	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		4	94	4	94	---	---	---	---
HIF1AN	55662	broad.mit.edu	37	10	102306905	102306905	+	Silent	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr10:102306905C>A	ENST00000299163.6	+	7	1003	c.903C>A	c.(901-903)ccC>ccA	p.P301P		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	301	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGGGGGCTCCCACCCCTAAGA	0.478																																						ENST00000299163.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(901-903)ccC>ccA		hypoxia inducible factor 1, alpha subunit inhibitor							44.0	39.0	41.0					10																	102306905		2203	4300	6503	SO:0001819	synonymous_variant	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102306905C>A	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.903C>A	10.37:g.102306905C>A			Somatic					p.P301P	NM_017902.2	NP_060372.2	WXS	Illumina GAIIx	Phase_I	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	7	1003	+		Colorectal(252;0.234)				Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	ENST00000299163.6	37	c.903C>A	CCDS7498.1																																																																																				0.478	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		3	28	3	28	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5536505	5536505	+	Silent	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr11:5536505G>T	ENST00000380184.1	-	1	1430	c.1167C>A	c.(1165-1167)acC>acA	p.T389T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	389										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAAGCTGCTGGGTAAGCTCTA	0.502																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1165-1167)acC>acA		ubiquilin-like							172.0	159.0	164.0					11																	5536505		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5536505G>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1167C>A	11.37:g.5536505G>T			Somatic				HBG2_ENST00000380259.2_Intron	p.T389T	NM_145053.4	NP_659490.4	WXS	Illumina GAIIx	Phase_I	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1430	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	389					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.1167C>A	CCDS31385.1																																																																																				0.502	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		5	159	5	159	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74900388	74900388	+	Missense_Mutation	SNP	G	G	T	rs553577630		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr17:74900388G>T	ENST00000569840.2	+	6	1148	c.574G>T	c.(574-576)Ggc>Tgc	p.G192C	MGAT5B_ENST00000301618.4_Missense_Mutation_p.G192C|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G203C|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	192					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGTGGACGGCACCGAGTG	0.682																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(574-576)Ggc>Tgc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							52.0	40.0	44.0					17																	74900388		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74900388G>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.574G>T	17.37:g.74900388G>T	ENSP00000456037:p.Gly192Cys		Somatic				MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G203C|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G192C	p.G192C	NM_001199172.1	NP_001186101.1	WXS	Illumina GAIIx	Phase_I	Q3V5L5	MGT5B_HUMAN			6	1148	+			192					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.574G>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473388	0.84640	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.57107	0.44;0.42	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76788	-0.2830	10	0.87932	D	0	-34.1038	14.815	0.70028	0.0:0.0:1.0:0.0	.	203;192	Q3V5L5-2;Q3V5L5-5	.;.	C	192;192;203	ENSP00000301618:G192C;ENSP00000391227:G203C	ENSP00000301618:G192C	G	+	1	0	MGAT5B	72411983	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.399000	0.97285	2.381000	0.81170	0.655000	0.94253	GGC		0.682	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		3	17	3	17	---	---	---	---
IL2RB	3560	broad.mit.edu	37	22	37524348	37524348	+	Silent	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1444-1446)Ctg>Ttg		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						19.0	24.0	22.0					22																	37524348		2181	4251	6432	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524348G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1444C>T	22.37:g.37524348G>A			Somatic					p.L482L	NM_000878.3	NP_000869.1	WXS	Illumina GAIIx	Phase_I	P14784	IL2RB_HUMAN			10	1642	-			482					B2R765	Silent	SNP	ENST00000216223.5	37	c.1444C>T	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			5	73	5	73	---	---	---	---
