#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
NLRC4	58484	broad.mit.edu	37	2	32475161	32475161	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:32475161A>T	ENST00000404025.2	-	5	2260	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	591					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.I591N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAATCGGGGATGTTCCCTGA	0.408																																						ENST00000404025.2																			1	Substitution - Missense(1)	p.I591N(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1771-1773)aTc>aAc		NLR family, CARD domain containing 4							100.0	101.0	100.0					2																	32475161		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475161A>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1772T>A	2.37:g.32475161A>T	ENSP00000385090:p.Ile591Asn		Somatic				NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron	p.I591N			WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			5	2260	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		591					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1772T>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241214	0.39598	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.56941	0.43;0.43;0.43	3.0	3.0	0.34707	.	0.000000	0.48767	D	0.000179	T	0.56673	0.2001	L	0.29908	0.895	0.34671	D	0.723666	D	0.71674	0.998	D	0.79784	0.993	T	0.64487	-0.6396	9	0.37606	T	0.19	.	11.0424	0.47838	1.0:0.0:0.0:0.0	.	591	Q9NPP4	NLRC4_HUMAN	N	591	ENSP00000354159:I591N;ENSP00000385428:I591N;ENSP00000385090:I591N	ENSP00000354159:I591N	I	-	2	0	NLRC4	32328665	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.257000	0.51500	1.632000	0.50472	0.443000	0.29094	ATC		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		6	245	6	245	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88478453	88478453	+	Silent	SNP	G	G	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:88478453G>A	ENST00000324166.5	+	4	2414	c.723G>A	c.(721-723)caG>caA	p.Q241Q	THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.Q241Q|THNSL2_ENST00000358591.2_Silent_p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	241					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.Q241Q(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTTACTTCCAGTGTACGCCAT	0.552																																						ENST00000324166.5																			1	Substitution - coding silent(1)	p.Q241Q(1)	prostate(1)	breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(721-723)caG>caA		threonine synthase-like 2 (S. cerevisiae)							257.0	228.0	238.0					2																	88478453		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88478453G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.723G>A	2.37:g.88478453G>A			Somatic				THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q	p.Q241Q	NM_018271.4	NP_060741.3	WXS	Illumina GAIIx	Phase_I	Q86YJ6	THNS2_HUMAN			4	2414	+			241					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.723G>A	CCDS2002.2																																																																																				0.552	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		10	447	10	447	---	---	---	---
CP	1356	broad.mit.edu	37	3	148905905	148905905	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr3:148905905A>C	ENST00000264613.6	-	10	2060	c.1798T>G	c.(1798-1800)Ttt>Gtt	p.F600V	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	600	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.F600V(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCAGTTGTAAACATTCTAATA	0.343																																						ENST00000264613.6																			1	Substitution - Missense(1)	p.F600V(1)	prostate(1)	breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1798-1800)Ttt>Gtt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						120.0	118.0	119.0					3																	148905905		2203	4297	6500	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148905905A>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1798T>G	3.37:g.148905905A>C	ENSP00000264613:p.Phe600Val		Somatic				CP_ENST00000462336.1_5'UTR	p.F600V	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	2060	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	600			F5/8 type A 2.|Plastocyanin-like 4.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1798T>G	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200832	0.79015	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.97959	-4.63;-4.63	6.06	6.06	0.98353	Cupredoxin (2);	0.097795	0.64402	D	0.000001	D	0.98823	0.9603	M	0.90483	3.12	0.54753	D	0.999985	D;P;D;D	0.67145	0.993;0.932;0.993;0.996	P;P;P;D	0.64506	0.825;0.639;0.825;0.926	D	0.99449	1.0940	10	0.56958	D	0.05	-29.7083	16.6127	0.84892	1.0:0.0:0.0:0.0	.	600;600;600;600	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	V	600;383	ENSP00000264613:F600V;ENSP00000420545:F383V	ENSP00000264613:F600V	F	-	1	0	CP	150388595	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	6.544000	0.73878	2.322000	0.78497	0.528000	0.53228	TTT		0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	261	6	261	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45744119	45744119	+	Silent	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:45744119C>A	ENST00000297323.7	+	17	2743	c.2721C>A	c.(2719-2721)ctC>ctA	p.L907L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	907					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L907L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAACAAAGCTCATGGAAAAAG	0.498																																						ENST00000297323.7																			1	Substitution - coding silent(1)	p.L907L(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2719-2721)ctC>ctA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						63.0	66.0	65.0					7																	45744119		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45744119C>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2721C>A	7.37:g.45744119C>A			Somatic					p.L907L	NM_021116.2	NP_066939.1	WXS	Illumina GAIIx	Phase_I	Q08828	ADCY1_HUMAN			17	2743	+			907					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.2721C>A	CCDS34631.1																																																																																				0.498	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		6	134	6	134	---	---	---	---
SPATA31C1	441452	broad.mit.edu	37	9	90535290	90535290	+	RNA	SNP	T	T	C	rs55701842		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr9:90535290T>C	ENST00000602681.1	+	0	1194							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTATGGAAGATGCTGCTCCCA	0.592																																						ENST00000602681.1																			0																				108.0	116.0	114.0					9																	90535290		692	1591	2283			441452							g.chr9:90535290T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535290T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1194	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	302	5	302	---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92608697	92608697	+	Splice_Site	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr14:92608697T>C	ENST00000298875.4	+	8	1134		c.e8+2			NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCCCAGGTTTGTTCTCAT	0.383																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.e8+2		cleavage and polyadenylation specific factor 2, 100kDa							188.0	182.0	184.0					14																	92608697		2203	4300	6503	SO:0001630	splice_region_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92608697T>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.849+2T>C	14.37:g.92608697T>C			Somatic						NM_017437.2	NP_059133.1	WXS	Illumina GAIIx	Phase_I	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	8	1134	+		all_cancers(154;0.0766)						B3KME1|Q6NSJ1|Q9H3W7	Splice_Site	SNP	ENST00000298875.4	37		CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653517	0.88056	.	.	ENSG00000165934	ENST00000298875	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6093	0.76704	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPSF2	91678450	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.942000	0.87708	2.082000	0.62665	0.460000	0.39030	.		0.383	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		Intron	5	286	5	286	---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43022880	43022880	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:43022880A>C	ENST00000356231.3	-	14	2113	c.2090T>G	c.(2089-2091)gTg>gGg	p.V697G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	697					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V697G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGAAACTCCACCAGCCAGGG	0.637																																						ENST00000356231.3																			1	Substitution - Missense(1)	p.V697G(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2089-2091)gTg>gGg		codanin 1							33.0	36.0	35.0					15																	43022880		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43022880A>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2090T>G	15.37:g.43022880A>C	ENSP00000348564:p.Val697Gly		Somatic					p.V697G	NM_138477.2	NP_612486.2	WXS	Illumina GAIIx	Phase_I	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	14	2113	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	697					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2090T>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656489	0.88154	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.85556	-2.0	5.77	4.65	0.58169	.	0.058475	0.64402	D	0.000002	D	0.88492	0.6451	M	0.79926	2.475	0.80722	D	1	D	0.58970	0.984	P	0.51453	0.67	D	0.89909	0.4050	10	0.87932	D	0	-18.0807	11.2179	0.48838	0.929:0.0:0.071:0.0	.	697	Q8IWY9	CDAN1_HUMAN	G	697;695	ENSP00000348564:V697G	ENSP00000267892:V695G	V	-	2	0	CDAN1	40810172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.125000	0.77193	2.199000	0.70637	0.533000	0.62120	GTG		0.637	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		6	41	6	41	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75980335	75980335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:75980335C>A	ENST00000308508.5	-	3	3163	c.3071G>T	c.(3070-3072)aGc>aTc	p.S1024I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1024	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S1024I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGATCCGGCTGATGGTCTG	0.657																																						ENST00000308508.5																			1	Substitution - Missense(1)	p.S1024I(1)	prostate(1)	breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3070-3072)aGc>aTc		chondroitin sulfate proteoglycan 4							39.0	44.0	42.0					15																	75980335		2197	4291	6488	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980335C>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3071G>T	15.37:g.75980335C>A	ENSP00000312506:p.Ser1024Ile		Somatic					p.S1024I	NM_001897.4	NP_001888.2	WXS	Illumina GAIIx	Phase_I	Q6UVK1	CSPG4_HUMAN			3	3163	-			1024			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3071G>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.454869	0.43634	.	.	ENSG00000173546	ENST00000308508	T	0.50277	0.75	4.89	3.0	0.34707	.	0.234980	0.38381	N	0.001719	T	0.36358	0.0964	L	0.44542	1.39	0.33411	D	0.578699	B	0.33448	0.412	B	0.34722	0.188	T	0.51156	-0.8741	10	0.72032	D	0.01	.	5.314	0.15845	0.0:0.6173:0.0:0.3827	.	1024	Q6UVK1	CSPG4_HUMAN	I	1024	ENSP00000312506:S1024I	ENSP00000312506:S1024I	S	-	2	0	CSPG4	73767390	1.000000	0.71417	0.960000	0.40013	0.984000	0.73092	2.661000	0.46758	1.057000	0.40506	0.555000	0.69702	AGC		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	118	4	118	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9075833	9075833	+	Silent	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:9075833C>T	ENST00000397910.4	-	3	11816	c.11613G>A	c.(11611-11613)gaG>gaA	p.E3871E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3872	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E3871E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTTTCTTTCTCATTCCAGG	0.448																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.E3871E(2)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11611-11613)gaG>gaA		mucin 16, cell surface associated							125.0	114.0	117.0					19																	9075833		2020	4195	6215	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075833C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11613G>A	19.37:g.9075833C>T			Somatic					p.E3871E	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	11816	-			3872			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.11613G>A	CCDS54212.1																																																																																				0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	100	8	100	---	---	---	---
PBX4	80714	broad.mit.edu	37	19	19675795	19675795	+	Missense_Mutation	SNP	G	G	A	rs139542458		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:19675795G>A	ENST00000251203.9	-	6	1158	c.872C>T	c.(871-873)aCg>aTg	p.T291M		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	291					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T291M(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCCAACTTCCGTGGTATCCAC	0.527																																						ENST00000251203.9																			1	Substitution - Missense(1)	p.T291M(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(871-873)aCg>aTg		pre-B-cell leukemia homeobox 4		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	253.0	255.0	254.0		872	3.8	0.0	19	dbSNP_134	254	0,8600		0,0,4300	no	missense	PBX4	NM_025245.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	291/375	19675795	1,13005	2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675795G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.872C>T	19.37:g.19675795G>A	ENSP00000251203:p.Thr291Met		Somatic					p.T291M	NM_025245.2	NP_079521.1	WXS	Illumina GAIIx	Phase_I	Q9BYU1	PBX4_HUMAN			6	1158	-								A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.872C>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561578	0.65538	2.27E-4	0.0	ENSG00000105717	ENST00000251203	D	0.90504	-2.68	3.75	3.75	0.43078	.	0.427784	0.23565	N	0.046814	D	0.92093	0.7494	M	0.68317	2.08	0.39621	D	0.970037	D	0.76494	0.999	P	0.54815	0.761	D	0.92172	0.5744	10	0.42905	T	0.14	-12.2147	13.1613	0.59547	0.0:0.0:1.0:0.0	.	291	Q9BYU1	PBX4_HUMAN	M	291	ENSP00000251203:T291M	ENSP00000251203:T291M	T	-	2	0	PBX4	19536795	1.000000	0.71417	0.008000	0.14137	0.041000	0.13682	6.457000	0.73505	1.953000	0.56701	0.505000	0.49811	ACG		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			9	377	9	377	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1433675	1433675	+	Splice_Site	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:1433675C>T	ENST00000216879.4	-	6	1515		c.e6+1		NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.?(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCACTCACCCTCTGCGGA	0.453																																						ENST00000216879.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.e6+1		NSFL1 (p97) cofactor (p47)							176.0	165.0	169.0					20																	1433675		2203	4300	6503	SO:0001630	splice_region_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433675C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.647+1G>A	20.37:g.1433675C>T			Somatic				NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site		NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			6	1515	-								A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Splice_Site	SNP	ENST00000216879.4	37		CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657632	0.88154	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5459	0.87861	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSFL1C	1381675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.830000	0.69324	2.890000	0.99128	0.650000	0.86243	.		0.453	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143	Intron	7	354	7	354	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3209652	3209652	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:3209652A>C	ENST00000380056.3	-	16	2119	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	SLC4A11_ENST00000380059.3_Missense_Mutation_p.V718G|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	691	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.V718G(1)|p.V691G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTGCCCTTCACCAGCCTGCA	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			2	Substitution - Missense(2)	p.V718G(1)|p.V691G(1)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2152-2154)gTg>gGg		solute carrier family 4, sodium borate transporter, member 11							87.0	72.0	77.0					20																	3209652		2201	4300	6501	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209652A>C	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2072T>G	20.37:g.3209652A>C	ENSP00000369396:p.Val691Gly		Somatic				SLC4A11_ENST00000380056.3_Missense_Mutation_p.V691G|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G	p.V718G	NM_001174090.1	NP_001167561.1	WXS	Illumina GAIIx	Phase_I	Q8NBS3	S4A11_HUMAN			17	2254	-			691			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.2153T>G	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199387	0.38806	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79352	-1.26;-1.26;-1.26	4.93	4.93	0.64822	Bicarbonate transporter, C-terminal (1);	0.217595	0.39341	N	0.001385	T	0.81432	0.4821	M	0.83483	2.645	0.80722	D	1	B;P;P	0.42337	0.36;0.587;0.776	B;B;B	0.43052	0.161;0.381;0.406	D	0.84003	0.0344	10	0.51188	T	0.08	.	14.8866	0.70572	1.0:0.0:0.0:0.0	.	675;718;691	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	G	718;691;675	ENSP00000369399:V718G;ENSP00000369396:V691G;ENSP00000441370:V675G	ENSP00000369396:V691G	V	-	2	0	SLC4A11	3157652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.200000	0.77838	1.989000	0.58080	0.379000	0.24179	GTG		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			8	25	8	25	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42057337	42057337	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr22:42057337C>T	ENST00000359308.4	+	11	2180	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	509					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P509S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTCTAGTGCCCAAGGTTGA	0.473								Non-homologous end-joining																														ENST00000359308.4																			2	Substitution - Missense(2)	p.P509S(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1525-1527)Ccc>Tcc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							117.0	123.0	121.0					22																	42057337		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42057337C>T	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1525C>T	22.37:g.42057337C>T	ENSP00000352257:p.Pro509Ser		Somatic				XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S	p.P509S			WXS	Illumina GAIIx	Phase_I	P12956	XRCC6_HUMAN			11	2180	+			509					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1525C>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161147	0.94727	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.51	5.51	0.81932	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.81562	-0.0876	10	0.62326	D	0.03	-14.4088	19.4236	0.94732	0.0:1.0:0.0:0.0	.	459;509;468;509	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	S	509;468;376;509;509;509;459	ENSP00000353192:P509S;ENSP00000384941:P468S;ENSP00000403679:P376S;ENSP00000352257:P509S;ENSP00000384257:P509S;ENSP00000384082:P459S	ENSP00000352257:P509S	P	+	1	0	XRCC6	40387283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.190000	0.77755	2.573000	0.86826	0.650000	0.86243	CCC		0.473	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		7	250	7	250	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73066367	73066367	+	lincRNA	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chrX:73066367T>C	ENST00000429829.1	-	0	6221					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGTAGGACCTTATTCACATGG	0.448																																						ENST00000429829.1																			0																				216.0	184.0	194.0					X																	73066367		876	1991	2867			7503							g.chrX:73066367T>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066367T>C			Somatic						NR_001564.2		WXS	Illumina GAIIx	Phase_I					0	6221	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.448	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		6	127	6	127	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519968	113519968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:113519968delT	ENST00000284601.3	-	4	1247	c.1179delA	c.(1177-1179)aaafs	p.K393fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	393					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGAATATTTTTCATTGC	0.393																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1177-1179)aaafs		protein phosphatase 1, regulatory subunit 3A							163.0	160.0	161.0					7																	113519968		2203	4300	6503	SO:0001589	frameshift_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519968delT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1179delA	7.37:g.113519968delT	ENSP00000284601:p.Lys393fs		Somatic					p.K393fs	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	1247	-			393					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Del	DEL	ENST00000284601.3	37	c.1179delA	CCDS5759.1																																																																																				0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		8	413	8	413	---	---	---	---
