#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
WDR77	79084	broad.mit.edu	37	1	111983955	111983955	+	Missense_Mutation	SNP	T	T	C	rs201514516	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:111983955T>C	ENST00000235090.5	-	10	1132	c.926A>G	c.(925-927)aAt>aGt	p.N309S	WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	309					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGGAGTGATTGAGCGGGGA	0.532													T|||	2	0.000399361	0.0	0.0	5008	,	,		18160	0.0		0.0	False		,,,				2504	0.002					ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(925-927)aAt>aGt		WD repeat domain 77							112.0	104.0	107.0					1																	111983955		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983955T>C	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.926A>G	1.37:g.111983955T>C	ENSP00000235090:p.Asn309Ser		Somatic				WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|WDR77_ENST00000497278.1_5'UTR	p.N309S	NM_024102.2	NP_077007.1	WXS	Illumina GAIIx	Phase_I	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1132	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	309					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.926A>G	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.76|19.76	3.887231|3.887231	0.72410|0.72410	.|.	.|.	ENSG00000116455|ENSG00000116455	ENST00000449340|ENST00000235090;ENST00000411751	.|T;T	.|0.29917	.|1.55;1.56	5.91|5.91	4.79|4.79	0.61399|0.61399	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.132593	.|0.64402	.|D	.|0.000002	T|T	0.14184|0.14184	0.0343|0.0343	L|L	0.60455|0.60455	1.87|1.87	0.33556|0.33556	D|D	0.59674|0.59674	.|B;P	.|0.39665	.|0.136;0.682	.|B;B	.|0.32928	.|0.035;0.155	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.46703	.|T	.|0.11	-16.5945|-16.5945	11.7189|11.7189	0.51670|0.51670	0.0:0.0695:0.0:0.9305|0.0:0.0695:0.0:0.9305	.|.	.|245;309	.|B4DP38;Q9BQA1	.|.;MEP50_HUMAN	V|S	258|309;245	.|ENSP00000235090:N309S;ENSP00000400321:N245S	.|ENSP00000235090:N309S	I|N	-|-	1|2	0|0	WDR77|WDR77	111785478|111785478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.187000|3.187000	0.50950|0.50950	1.061000|1.061000	0.40601|0.40601	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.532	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		13	43	13	43	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156819190	156819190	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:156819190G>A	ENST00000368195.3	-	6	1688	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGAGCCCCGCGGCCACCCA	0.622																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1291-1293)gCg>gTg		insulin receptor-related receptor							93.0	95.0	94.0					1																	156819190		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819190G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1292C>T	1.37:g.156819190G>A	ENSP00000357178:p.Ala431Val		Somatic				NTRK1_ENST00000392302.2_Intron	p.A431V	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			6	1688	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		431					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1292C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351280	0.41700	.	.	ENSG00000027644	ENST00000368195	T	0.79352	-1.26	4.77	2.85	0.33270	EGF receptor, L domain (1);	0.153579	0.30365	N	0.009789	T	0.51856	0.1699	.	.	.	0.09310	N	1	B	0.26120	0.142	B	0.22386	0.039	T	0.51647	-0.8679	9	0.66056	D	0.02	.	11.6272	0.51153	0.0:0.0:0.5333:0.4667	.	431	P14616	INSRR_HUMAN	V	431	ENSP00000357178:A431V	ENSP00000357178:A431V	A	-	2	0	INSRR	155085814	0.999000	0.42202	0.052000	0.19188	0.982000	0.71751	3.256000	0.51492	0.598000	0.29829	0.561000	0.74099	GCG		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		14	49	14	49	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220791998	220791998	+	Silent	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:220791998A>G	ENST00000366917.4	+	9	1076	c.810A>G	c.(808-810)ttA>ttG	p.L270L	MARK1_ENST00000366918.4_Silent_p.L248L|MARK1_ENST00000402574.1_Silent_p.L135L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGCGAGTTTTACGAGGGAAGT	0.353																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(403-405)ttA>ttG		MAP/microtubule affinity-regulating kinase 1							98.0	99.0	99.0					1																	220791998		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791998A>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.810A>G	1.37:g.220791998A>G			Somatic				MARK1_ENST00000366917.4_Silent_p.L270L|MARK1_ENST00000366918.4_Silent_p.L248L	p.L135L	NM_018650.3	NP_061120.3	WXS	Illumina GAIIx	Phase_I	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1407	+			270			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.405A>G	CCDS31029.2																																																																																				0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			23	36	23	36	---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223284141	223284141	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:223284141G>T	ENST00000540964.1	-	4	2694	c.2233C>A	c.(2233-2235)Cag>Aag	p.Q745K	TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K			O60602	TLR5_HUMAN	toll-like receptor 5	745	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATGGCATCCTGGATATTGGCA	0.473																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2233-2235)Cag>Aag		toll-like receptor 5							79.0	73.0	75.0					1																	223284141		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284141G>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2233C>A	1.37:g.223284141G>T	ENSP00000440643:p.Gln745Lys		Somatic				TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K	p.Q745K			WXS	Illumina GAIIx	Phase_I	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2694	-			745		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2233C>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944194	0.53079	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.07567	3.18;3.18;3.18	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.065812	0.64402	D	0.000018	T	0.18341	0.0440	M	0.68952	2.095	0.35556	D	0.80425	B	0.25235	0.121	B	0.35971	0.215	T	0.06391	-1.0829	10	0.49607	T	0.09	.	20.0791	0.97764	0.0:0.0:1.0:0.0	.	745	O60602	TLR5_HUMAN	K	745	ENSP00000440643:Q745K;ENSP00000355846:Q745K;ENSP00000340089:Q745K	ENSP00000340089:Q745K	Q	-	1	0	TLR5	221350764	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	3.917000	0.56424	2.735000	0.93741	0.650000	0.86243	CAG		0.473	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		3	21	3	21	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233394212	233394212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:233394212G>A	ENST00000258229.9	-	5	1630	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	466						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCAGAACACTGATTGGTGGAT	0.572																																						ENST00000258229.9																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1396-1398)Cag>Tag		pecanex-like 2 (Drosophila)							58.0	62.0	61.0					1																	233394212		1978	4159	6137	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233394212G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1396C>T	1.37:g.233394212G>A	ENSP00000258229:p.Gln466*		Somatic				PCNXL2_ENST00000430153.1_5'UTR	p.Q466*	NM_014801.3	NP_055616.3	WXS	Illumina GAIIx	Phase_I	A6NKB5	PCX2_HUMAN			5	1630	-		all_cancers(173;0.0347)|Prostate(94;0.137)						O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.1396C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	38	6.883467	0.97908	.	.	ENSG00000135749	ENST00000258229	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.8601	0.92268	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000258229:Q466X	Q	-	1	0	PCNXL2	231460835	0.998000	0.40836	0.401000	0.26359	0.044000	0.14063	4.788000	0.62439	2.682000	0.91365	0.655000	0.94253	CAG		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		11	11	11	11	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24990954	24990954	+	Intron	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:24990954A>C	ENST00000406961.1	+	23	4807				NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q|NCOA1_ENST00000405141.1_Missense_Mutation_p.K1388Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1						androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGGACAAGAAGACAGAAGA	0.438			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(4162-4164)Aag>Cag		nuclear receptor coactivator 1							92.0	93.0	92.0					2																	24990954		2203	4300	6503	SO:0001627	intron_variant	8648							g.chr2:24990954A>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4156-136A>C	2.37:g.24990954A>C			Somatic				NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000406961.1_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q	p.K1388Q			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			24	4873	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1388					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.4162A>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	0.595	-0.831530	0.02713	.	.	ENSG00000084676	ENST00000405141;ENST00000407230;ENST00000538539;ENST00000288599	T;T;T;T	0.01685	4.82;4.69;4.82;4.82	5.74	5.74	0.90152	.	.	.	.	.	T	0.01558	0.0050	N	0.00436	-1.5	0.21184	N	0.999769	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.57271	-0.7840	9	0.02654	T	1	.	14.2767	0.66184	1.0:0.0:0.0:0.0	.	1388;1237	Q15788-2;B5MCN7	.;.	Q	1388;1237;1388;1388	ENSP00000385097:K1388Q;ENSP00000385195:K1237Q;ENSP00000444039:K1388Q;ENSP00000288599:K1388Q	ENSP00000288599:K1388Q	K	+	1	0	NCOA1	24844458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.194000	0.70268	0.460000	0.39030	AAG		0.438	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		31	97	31	97	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162091959	162091959	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:162091959T>C	ENST00000392749.2	+	8	1447	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	TANK_ENST00000259075.2_Missense_Mutation_p.F403S|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	403					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAAGCAGTTTTCCCACCATCC	0.433																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(1207-1209)tTc>tCc		TRAF family member-associated NFKB activator							135.0	130.0	132.0					2																	162091959		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162091959T>C	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1208T>C	2.37:g.162091959T>C	ENSP00000376505:p.Phe403Ser		Somatic				AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Missense_Mutation_p.F403S	p.F403S	NM_001199135.1	NP_001186064.1	WXS	Illumina GAIIx	Phase_I	Q92844	TANK_HUMAN			8	1447	+			403					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.1208T>C	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902863	0.92035	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000439442	T;T;T	0.36520	1.62;1.62;1.25	5.98	5.98	0.97165	.	0.106594	0.64402	D	0.000005	T	0.37679	0.1012	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	P	0.49140	0.601	T	0.24119	-1.0169	10	0.87932	D	0	-1.0782	16.4696	0.84102	0.0:0.0:0.0:1.0	.	403	Q92844	TANK_HUMAN	S	403;403;176	ENSP00000259075:F403S;ENSP00000376505:F403S;ENSP00000387439:F176S	ENSP00000259075:F403S	F	+	2	0	TANK	161800205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTC		0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		30	71	30	71	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171700581	171700581	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:171700581T>C	ENST00000358196.3	+	7	1215	c.665T>C	c.(664-666)tTt>tCt	p.F222S	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	222					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GCACCAGTGTTTGTCCTCATG	0.368																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(664-666)tTt>tCt		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						194.0	197.0	196.0					2																	171700581		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171700581T>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.665T>C	2.37:g.171700581T>C	ENSP00000350928:p.Phe222Ser		Somatic				GAD1_ENST00000429023.1_3'UTR	p.F222S	NM_000817.2	NP_000808.2	WXS	Illumina GAIIx	Phase_I	Q99259	DCE1_HUMAN			7	1215	+			222					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.665T>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291724	0.80914	.	.	ENSG00000128683	ENST00000358196	T	0.37235	1.21	6.17	6.17	0.99709	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75408	-0.3328	10	0.87932	D	0	-14.5475	16.8222	0.85835	0.0:0.0:0.0:1.0	.	222	Q99259	DCE1_HUMAN	S	222	ENSP00000350928:F222S	ENSP00000350928:F222S	F	+	2	0	GAD1	171408827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.633000	0.83260	2.371000	0.80710	0.533000	0.62120	TTT		0.368	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			9	22	9	22	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207414876	207414876	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:207414876C>G	ENST00000264377.3	+	9	1253	c.925C>G	c.(925-927)Cac>Gac	p.H309D	ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D|ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	309	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGTTAATGATCACAAAACGGT	0.269																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(925-927)Cac>Gac		ADAM metallopeptidase domain 23							69.0	71.0	71.0					2																	207414876		2203	4297	6500	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207414876C>G	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.925C>G	2.37:g.207414876C>G	ENSP00000264377:p.His309Asp		Somatic				ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D|ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D	p.H309D	NM_003812.2	NP_003803.1	WXS	Illumina GAIIx	Phase_I	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	9	1253	+			309			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.925C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574942	0.86542	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09911	2.93;2.93;2.93	5.86	5.86	0.93980	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000023	T	0.33962	0.0881	M	0.62154	1.92	0.80722	D	1	D	0.65815	0.995	D	0.74023	0.982	T	0.00414	-1.1754	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	309	O75077	ADA23_HUMAN	D	309;309;203;309	ENSP00000264377:H309D;ENSP00000363537:H309D;ENSP00000363536:H309D	ENSP00000264377:H309D	H	+	1	0	ADAM23	207123121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.879000	0.75572	2.937000	0.99478	0.650000	0.86243	CAC		0.269	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		10	24	10	24	---	---	---	---
CP	1356	broad.mit.edu	37	3	148916153	148916153	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr3:148916153C>G	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						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)			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)	GTTGGACTTACCTGTCTCCCA	0.338																																						ENST00000264613.6																			0				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.e9+1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						90.0	85.0	87.0					3																	148916153		2203	4300	6503	SO:0001630	splice_region_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148916153C>G	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.1713+1G>C	3.37:g.148916153C>G			Somatic				CP_ENST00000462336.1_Splice_Site		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)		9	1976	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)						Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	37		CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522984	0.64747	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4968	0.87719	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150398843	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	4.541000	0.60670	2.573000	0.86826	0.650000	0.86243	.		0.338	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	Intron	13	32	13	32	---	---	---	---
NOA1	84273	broad.mit.edu	37	4	57842862	57842862	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr4:57842862C>A	ENST00000264230.4	-	1	2127	c.890G>T	c.(889-891)gGg>gTg	p.G297V	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	297	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CGGATTCTCCCCGTCCTGTGG	0.677																																						ENST00000264230.4																			0											c.(889-891)gGg>gTg		nitric oxide associated 1							38.0	38.0	38.0					4																	57842862		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57842862C>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.890G>T	4.37:g.57842862C>A	ENSP00000264230:p.Gly297Val		Somatic					p.G297V	NM_032313.2	NP_115689.1	WXS	Illumina GAIIx	Phase_I	Q8NC60	CD014_HUMAN			1	2127	-			297					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.890G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	2.722	-0.266383	0.05754	.	.	ENSG00000084092	ENST00000264230	T	0.28666	1.6	3.54	-4.98	0.03019	.	2.263710	0.01747	N	0.029718	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	0.999995	B	0.17038	0.02	B	0.08055	0.003	T	0.11324	-1.0592	10	0.12766	T	0.61	.	1.5597	0.02592	0.1393:0.2041:0.3686:0.288	.	297	Q8NC60	CD014_HUMAN	V	297	ENSP00000264230:G297V	ENSP00000264230:G297V	G	-	2	0	C4orf14	57537619	.	.	0.000000	0.03702	0.048000	0.14542	.	.	-1.353000	0.02191	0.555000	0.69702	GGG		0.677	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		4	29	4	29	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131008040	131008040	+	Silent	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:131008040T>C	ENST00000510461.1	-	14	2192	c.2097A>G	c.(2095-2097)ttA>ttG	p.L699L	FNIP1_ENST00000307954.8_Silent_p.L654L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Silent_p.L671L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	699					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTGTTGACTCTAAGCCTGACT	0.428																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2011-2013)ttA>ttG		folliculin interacting protein 1							228.0	211.0	216.0					5																	131008040		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131008040T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2097A>G	5.37:g.131008040T>C			Somatic				CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L654L|FNIP1_ENST00000510461.1_Silent_p.L699L	p.L671L	NM_001008738.2	NP_001008738	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2012	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.2013A>G	CCDS34227.1																																																																																				0.428	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		56	148	56	148	---	---	---	---
MYOT	9499	broad.mit.edu	37	5	137219277	137219277	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:137219277C>A	ENST00000239926.4	+	7	1395	c.1021C>A	c.(1021-1023)Ctt>Att	p.L341I	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	341	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGGATGTCCTTGGTAAGCC	0.413																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1021-1023)Ctt>Att		myotilin							61.0	59.0	60.0					5																	137219277		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219277C>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1021C>A	5.37:g.137219277C>A	ENSP00000239926:p.Leu341Ile		Somatic				RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron	p.L341I	NM_006790.2	NP_006781	WXS	Illumina GAIIx	Phase_I	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1395	+			341			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.1021C>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	4.543	0.100833	0.08731	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.74106	-0.81;-0.81;-0.81	5.01	3.22	0.36961	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000050	T	0.51839	0.1698	N	0.16166	0.38	0.32482	N	0.541402	B	0.09022	0.002	B	0.04013	0.001	T	0.49153	-0.8969	10	0.16896	T	0.51	.	7.4958	0.27487	0.4467:0.472:0.0:0.0812	.	341	Q9UBF9	MYOTI_HUMAN	I	341;157;226	ENSP00000239926:L341I;ENSP00000391185:L157I;ENSP00000426281:L226I	ENSP00000239926:L341I	L	+	1	0	MYOT	137247176	0.026000	0.19158	0.997000	0.53966	0.992000	0.81027	0.364000	0.20325	0.616000	0.30141	0.655000	0.94253	CTT		0.413	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		3	28	3	28	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256423	140256423	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:140256423G>A	ENST00000398631.2	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A456T(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCGTTCGCGCAGCCCGA	0.662																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - Missense(1)	p.A456T(1)	endometrium(1)	NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1366-1368)Gcg>Acg									102.0	103.0	102.0					5																	140256423		2203	4300	6503	SO:0001583	missense	56137							g.chr5:140256423G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1366G>A	5.37:g.140256423G>A	ENSP00000381628:p.Ala456Thr		Somatic				PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	p.A456T	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1366	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1366G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308853	0.23821	.	.	ENSG00000251664	ENST00000398631	T	0.01359	4.98	4.92	4.04	0.47022	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00815	0.0027	N	0.04994	-0.135	0.09310	N	0.999996	P;B	0.40266	0.71;0.152	B;B	0.32090	0.14;0.116	T	0.54173	-0.8333	9	0.33141	T	0.24	.	7.4859	0.27432	0.1218:0.2814:0.5969:0.0	.	456;456	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	456	ENSP00000381628:A456T	ENSP00000381628:A456T	A	+	1	0	PCDHA12	140236607	0.000000	0.05858	0.990000	0.47175	0.616000	0.37450	-1.270000	0.02831	1.196000	0.43129	0.650000	0.86243	GCG		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		36	114	36	114	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658755	46658755	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:46658755A>C	ENST00000316081.6	+	1	2890	c.2890A>C	c.(2890-2892)Aag>Cag	p.K964Q	TDRD6_ENST00000544460.1_Missense_Mutation_p.K964Q|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	964					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAACTTCAGAAGCCTTTGGA	0.363																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2890-2892)Aag>Cag		tudor domain containing 6							63.0	70.0	68.0					6																	46658755		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658755A>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2890A>C	6.37:g.46658755A>C	ENSP00000346065:p.Lys964Gln		Somatic				TDRD6_ENST00000316081.6_Missense_Mutation_p.K964Q	p.K964Q	NM_001168359.1	NP_001161831.1	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3144	+			964					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2890A>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155404	0.57259	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.42	5.74	5.74	0.90152	.	0.356145	0.28641	N	0.014640	T	0.10809	0.0264	L	0.35723	1.085	0.37985	D	0.933729	P;P	0.47762	0.9;0.72	P;B	0.47430	0.547;0.345	T	0.13764	-1.0497	10	0.20519	T	0.43	-5.7383	16.0326	0.80588	1.0:0.0:0.0:0.0	.	964;964	F5H5M3;O60522	.;TDRD6_HUMAN	Q	964	ENSP00000443299:K964Q;ENSP00000346065:K964Q	ENSP00000346065:K964Q	K	+	1	0	TDRD6	46766714	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.996000	0.76263	2.185000	0.69588	0.528000	0.53228	AAG		0.363	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		25	58	25	58	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54806506	54806506	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:54806506A>G	ENST00000306858.7	+	5	2853	c.2737A>G	c.(2737-2739)Act>Gct	p.T913A	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	913										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGAAGACCTACTTCTTCTCC	0.463																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2737-2739)Act>Gct		family with sequence similarity 83, member B							110.0	99.0	103.0					6																	54806506		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806506A>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2737A>G	6.37:g.54806506A>G	ENSP00000304078:p.Thr913Ala		Somatic					p.T913A	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			5	2853	+	Lung NSC(77;0.0178)|Renal(3;0.122)		913					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2737A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	2.059	-0.415895	0.04766	.	.	ENSG00000168143	ENST00000306858	T	0.06608	3.28	5.24	1.72	0.24424	.	2.791760	0.01197	N	0.007461	T	0.01061	0.0035	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	10	0.13108	T	0.6	-1.9391	1.6213	0.02713	0.2673:0.206:0.3927:0.134	.	913	Q5T0W9	FA83B_HUMAN	A	913	ENSP00000304078:T913A	ENSP00000304078:T913A	T	+	1	0	FAM83B	54914465	0.005000	0.15991	0.021000	0.16686	0.033000	0.12548	-0.014000	0.12656	0.552000	0.29026	0.533000	0.62120	ACT		0.463	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		20	45	20	45	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679721	100679721	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:100679721C>A	ENST00000306151.4	+	3	5088	c.5024C>A	c.(5023-5025)gCt>gAt	p.A1675D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1675	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACACCTGCTGAAGGTACC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5023-5025)gCt>gAt		mucin 17, cell surface associated							208.0	219.0	215.0					7																	100679721		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679721C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5024C>A	7.37:g.100679721C>A	ENSP00000302716:p.Ala1675Asp		Somatic					p.A1675D	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	5088	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1675			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5024C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.979	-0.006857	0.07773	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.932	0.932	0.19466	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.45538	0.484	T	0.47407	-0.9120	9	0.12766	T	0.61	.	5.3368	0.15961	0.0:1.0:0.0:0.0	.	1675	Q685J3	MUC17_HUMAN	D	1675	ENSP00000302716:A1675D	ENSP00000302716:A1675D	A	+	2	0	MUC17	100466441	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.181000	0.16880	0.857000	0.35407	0.134000	0.15878	GCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		61	186	61	186	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140481405	140481405	+	Missense_Mutation	SNP	A	A	C	rs397507473		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:140481405A>C	ENST00000288602.6	-	11	1463	c.1403T>G	c.(1402-1404)tTt>tGt	p.F468C		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		F -> S (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:18042262}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F468S(1)|p.F468C(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GACTGTTCCAAATGATCCAGA	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	2	Substitution - Missense(2)	p.F468S(1)|p.F468C(1)	large_intestine(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060881	BRAF	M		c.(1402-1404)tTt>tGt		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						172.0	148.0	156.0					7																	140481405		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481405A>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1403T>G	7.37:g.140481405A>C	ENSP00000288602:p.Phe468Cys		Somatic					p.F468C	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			11	1463	-	Melanoma(164;0.00956)		468		F -> S (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1403T>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.370078|4.370078	0.82573|0.82573	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.89681|.	-2.55|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.095786|.	0.85682|.	D|.	0.000000|.	T|T	0.74261|0.74261	0.3693|0.3693	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.68621|.	0.959|.	T|T	0.75124|0.75124	-0.3428|-0.3428	10|5	0.87932|.	D|.	0|.	.|.	14.394|14.394	0.66999|0.66999	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	468|.	P15056|.	BRAF_HUMAN|.	C|V	468|76	ENSP00000288602:F468C|.	ENSP00000288602:F468C|.	F|L	-|-	2|1	0|2	BRAF|BRAF	140127874|140127874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.130000|2.130000	0.65690|0.65690	0.477000|0.477000	0.44152|0.44152	TTT|TTG		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	57	12	57	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151860195	151860195	+	Silent	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:151860195T>C	ENST00000262189.6	-	43	10685	c.10467A>G	c.(10465-10467)caA>caG	p.Q3489Q	KMT2C_ENST00000355193.2_Silent_p.Q3489Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3489	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGATCCTTGTTGTATATTCT	0.463																																						ENST00000355193.2																			0											c.(10465-10467)caA>caG		lysine (K)-specific methyltransferase 2C							138.0	138.0	138.0					7																	151860195		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151860195T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10467A>G	7.37:g.151860195T>C			Somatic				KMT2C_ENST00000262189.6_Silent_p.Q3489Q	p.Q3489Q			WXS	Illumina GAIIx	Phase_I					43	10685	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.10467A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438485	0.01098	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.18	-1.38	0.09027	.	.	.	.	.	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62642	-0.6811	4	.	.	.	.	13.3897	0.60816	0.0:0.6422:0.0:0.3578	.	.	.	.	A	995	.	.	T	-	1	0	MLL3	151491128	0.977000	0.34250	0.014000	0.15608	0.015000	0.08874	0.004000	0.13106	-0.244000	0.09639	-0.408000	0.06270	ACA		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	96	28	96	---	---	---	---
GLE1	2733	broad.mit.edu	37	9	131296231	131296231	+	Splice_Site	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr9:131296231G>A	ENST00000309971.4	+	11	1752		c.e11+1		GLE1_ENST00000372770.4_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						ACTATCAGAGGTAAAGTTGTT	0.398																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.e11+1		GLE1 RNA export mediator							120.0	110.0	114.0					9																	131296231		2203	4300	6503	SO:0001630	splice_region_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131296231G>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1646+1G>A	9.37:g.131296231G>A			Somatic				GLE1_ENST00000372770.4_Splice_Site|GLE1_ENST00000539582.1_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA		NM_001003722.1	NP_001003722.1	WXS	Illumina GAIIx	Phase_I	Q53GS7	GLE1_HUMAN			11	1752	+								O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Splice_Site	SNP	ENST00000309971.4	37		CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742607	0.89573	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLE1	130336052	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.370000	0.97159	2.756000	0.94617	0.561000	0.74099	.		0.398	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	Intron	24	43	24	43	---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3177927	3177927	+	Splice_Site	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:3177927G>A	ENST00000381125.4	+	21	2198		c.e21-1		PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Splice_Site|PFKP_ENST00000381072.1_Splice_Site	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATCTTTTATAGGAAAAAAATT	0.408																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e23-1		phosphofructokinase, platelet							44.0	47.0	46.0					10																	3177927		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3177927G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2123-1G>A	10.37:g.3177927G>A			Somatic				PFKP_ENST00000381072.1_Splice_Site|PFKP_ENST00000381125.4_Splice_Site		NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2322	+								B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37		CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.856998	0.51376	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072;ENST00000433193	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7878	0.91961	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKP	3167927	1.000000	0.71417	0.208000	0.23602	0.048000	0.14542	6.507000	0.73717	2.423000	0.82170	0.563000	0.77884	.		0.408	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	Intron	11	44	11	44	---	---	---	---
ZFAND4	93550	broad.mit.edu	37	10	46113586	46113586	+	Splice_Site	SNP	G	G	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:46113586G>C	ENST00000344646.5	-	9	2264		c.e9+1		ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site|ZFAND4_ENST00000374366.3_Splice_Site	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4								zinc ion binding (GO:0008270)										TCGCCAACCTGCCTGCATTCG	0.408																																						ENST00000374366.3																			0											c.e10+1		zinc finger, AN1-type domain 4							66.0	67.0	67.0					10																	46113586		2203	4300	6503	SO:0001630	splice_region_variant	93550						zinc ion binding	g.chr10:46113586G>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2048+1C>G	10.37:g.46113586G>C			Somatic				ZFAND4_ENST00000344646.5_Splice_Site|ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site		NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	WXS	Illumina GAIIx	Phase_I	Q86XD8	ANUB1_HUMAN			10	2292	-								A8K8V4|B2RAX2|Q5VVY5	Splice_Site	SNP	ENST00000344646.5	37		CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544099	0.65198	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	.	.	.	5.99	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1247	0.59346	0.077:0.0:0.923:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANUBL1	45433592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.003000	0.57061	1.538000	0.49270	0.655000	0.94253	.		0.408	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	Intron	12	29	12	29	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118635928	118635928	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:118635928A>C	ENST00000526070.2	-	6	995	c.635T>G	c.(634-636)cTt>cGt	p.L212R	DDX6_ENST00000264018.4_Missense_Mutation_p.L212R|DDX6_ENST00000534980.1_Missense_Mutation_p.L212R	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	212	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TGTATCATCAAGCCTCATTAT	0.368			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(634-636)cTt>cGt		DEAD (Asp-Glu-Ala-Asp) box helicase 6							347.0	337.0	340.0					11																	118635928		1873	4109	5982	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118635928A>C	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.635T>G	11.37:g.118635928A>C	ENSP00000433704:p.Leu212Arg		Somatic				DDX6_ENST00000534980.1_Missense_Mutation_p.L212R|DDX6_ENST00000526070.2_Missense_Mutation_p.L212R	p.L212R	NM_004397.4	NP_004388.2	WXS	Illumina GAIIx	Phase_I	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	6	940	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	212			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.635T>G	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537608	0.85917	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.22743	1.94;1.94;1.94	5.7	5.7	0.88788	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.110302	0.64402	D	0.000006	T	0.55497	0.1924	M	0.91459	3.21	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.66528	-0.5901	10	0.87932	D	0	.	15.6892	0.77436	1.0:0.0:0.0:0.0	.	212	P26196	DDX6_HUMAN	R	212	ENSP00000264018:L212R;ENSP00000442266:L212R;ENSP00000433704:L212R	ENSP00000264018:L212R	L	-	2	0	DDX6	118141138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.327000	0.96396	2.177000	0.69029	0.524000	0.50904	CTT		0.368	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		62	166	62	166	---	---	---	---
DCN	1634	broad.mit.edu	37	12	91572146	91572146	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:91572146G>T	ENST00000052754.5	-	2	685	c.184C>A	c.(184-186)Ctt>Att	p.L62I	DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000551354.1_Missense_Mutation_p.L62I|DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	62	Cys-rich.				aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACCACTCGAAGATGGCATTGA	0.512											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551354.1																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(184-186)Ctt>Att		decorin							151.0	143.0	146.0					12																	91572146		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91572146G>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.184C>A	12.37:g.91572146G>T	ENSP00000052754:p.Leu62Ile		Somatic	OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000052754.5_Missense_Mutation_p.L62I	p.L62I			WXS	Illumina GAIIx	Phase_I	P07585	PGS2_HUMAN			2	388	-			62			Cys-rich.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.184C>A	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838076	0.91117	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;T;D;T;D;T;T;D;D;D;D;T;T;T;D;D;D;D;D	0.96491	3.15;3.15;-4.03;3.15;-4.03;3.15;3.15;-4.03;-4.03;-4.03;-4.03;3.15;3.15;3.15;-4.03;-4.03;-4.03;-4.03;-4.03	5.91	5.01	0.66863	Leucine-rich repeat-containing N-terminal (2);	0.115675	0.64402	N	0.000010	D	0.96636	0.8902	L	0.48260	1.515	0.27221	N	0.959656	B;D;D;B;B	0.63880	0.085;0.979;0.993;0.017;0.028	P;P;P;B;B	0.62813	0.497;0.801;0.907;0.056;0.053	D	0.92434	0.5956	10	0.26408	T	0.33	.	16.1928	0.82004	0.0:0.0:0.8589:0.1411	.	62;62;62;62;62	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	I	62	ENSP00000052754:L62I;ENSP00000228329:L62I;ENSP00000302031:L62I;ENSP00000376862:L62I;ENSP00000401021:L62I;ENSP00000447654:L62I;ENSP00000413723:L62I;ENSP00000399815:L62I;ENSP00000447674:L62I;ENSP00000446530:L62I;ENSP00000398514:L62I;ENSP00000449782:L62I;ENSP00000447886:L62I;ENSP00000449014:L62I;ENSP00000449438:L62I;ENSP00000446527:L62I;ENSP00000448857:L62I;ENSP00000448057:L62I;ENSP00000448274:L62I	ENSP00000052754:L62I	L	-	1	0	DCN	90096277	1.000000	0.71417	0.962000	0.40283	0.834000	0.47266	5.150000	0.64869	1.470000	0.48102	0.460000	0.39030	CTT		0.512	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		22	58	22	58	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100811862	100811862	+	Silent	SNP	G	G	T	rs145178639	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:100811862G>T	ENST00000323346.5	+	11	1666	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G	SLC17A8_ENST00000392989.3_Silent_p.G401G|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	451					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTCATGGGGATCTCAAACG	0.488																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1351-1353)ggG>ggT		solute carrier family 17 (vesicular glutamate transporter), member 8							179.0	164.0	169.0					12																	100811862		2203	4300	6503	SO:0001819	synonymous_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811862G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1353G>T	12.37:g.100811862G>T			Somatic				SLC17A8_ENST00000392989.3_Silent_p.G401G|SLC17A8_ENST00000552697.1_3'UTR	p.G451G	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	WXS	Illumina GAIIx	Phase_I	Q8NDX2	VGLU3_HUMAN			11	1666	+			451					B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.1353G>T	CCDS9077.1																																																																																				0.488	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		25	103	25	103	---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	107914363	107914363	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:107914363C>A	ENST00000280758.5	+	2	1763	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N|BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	412						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGCTGAGGACCATCGAGCAG	0.562																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1234-1236)aCc>aAc		BTB (POZ) domain containing 11							140.0	125.0	130.0					12																	107914363		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107914363C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1235C>A	12.37:g.107914363C>A	ENSP00000280758:p.Thr412Asn		Somatic				BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N|BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N	p.T412N	NM_001018072.1	NP_001018082.1	WXS	Illumina GAIIx	Phase_I	A6QL63	BTBDB_HUMAN			2	1763	+			412					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1235C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413366	0.62511	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.97	3.97	0.46021	.	0.586122	0.17109	N	0.186675	T	0.62085	0.2399	M	0.64404	1.975	0.80722	D	1	P;P;D	0.60575	0.932;0.48;0.988	P;B;P	0.57548	0.66;0.083;0.823	T	0.68051	-0.5511	10	0.72032	D	0.01	.	16.9431	0.86223	0.0:1.0:0.0:0.0	.	412;412;412	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	N	412;412;412;46	ENSP00000280758:T412N;ENSP00000413889:T412N;ENSP00000447319:T412N;ENSP00000407416:T46N	ENSP00000280758:T412N	T	+	2	0	BTBD11	106438493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.159000	0.67721	0.561000	0.74099	ACC		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		13	52	13	52	---	---	---	---
LINC00173	100287569	broad.mit.edu	37	12	116972454	116972454	+	RNA	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:116972454C>G	ENST00000480237.1	+	0	725					NR_027345.1		Q6ZV60	YL023_HUMAN	long intergenic non-protein coding RNA 173																		CCGTACAGCACGATGATTACA	0.448																																						ENST00000480237.1																			0																				151.0	120.0	130.0					12																	116972454		2203	4300	6503			100287569							g.chr12:116972454C>G	AC090670, BC038547, BC121822		12q24.22	2012-10-12	2011-08-11	2011-08-11	ENSG00000196668	ENSG00000196668		"""Long non-coding RNAs"""	33791	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 173"""	NCRNA00173			Standard	NR_027345		Approved	FLJ42957	uc001tvx.1	Q6ZV60	OTTHUMG00000157726		12.37:g.116972454C>G			Somatic						NR_027345.1		WXS	Illumina GAIIx	Phase_I					0	725	+									RNA	SNP	ENST00000480237.1	37																																																																																						0.448	LINC00173-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000349521.1	NR_027345		13	57	13	57	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914995	23914995	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr13:23914995T>A	ENST00000382292.3	-	9	3293	c.3020A>T	c.(3019-3021)gAa>gTa	p.E1007V	SACS_ENST00000382298.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1007					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTACCTCTTCATGTGAATA	0.328																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3019-3021)gAa>gTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							109.0	111.0	110.0					13																	23914995		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914995T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3020A>T	13.37:g.23914995T>A	ENSP00000371729:p.Glu1007Val		Somatic				SACS_ENST00000382292.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V	p.E1007V	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3608	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1007					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3020A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	16.88	3.245287	0.59103	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.23;-2.38;-2.23	6.05	4.85	0.62838	.	0.285113	0.39834	N	0.001254	D	0.82783	0.5112	L	0.32530	0.975	0.38320	D	0.943493	B	0.28419	0.211	B	0.25140	0.058	T	0.80269	-0.1453	10	0.41790	T	0.15	.	12.676	0.56895	0.1238:0.0:0.0:0.8762	.	1007	Q9NZJ4	SACS_HUMAN	V	1007;257;1007	ENSP00000371729:E1007V;ENSP00000385844:E257V;ENSP00000371735:E1007V	ENSP00000371729:E1007V	E	-	2	0	SACS	22812995	1.000000	0.71417	0.904000	0.35570	0.983000	0.72400	4.873000	0.63057	1.078000	0.41014	0.528000	0.53228	GAA		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		29	100	29	100	---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114203965	114203965	+	3'UTR	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr13:114203965C>G	ENST00000434316.2	+	0	2505				TMCO3_ENST00000375391.1_Silent_p.L414L	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAACAGCCCTCTAGCAGAGCG	0.498																																						ENST00000375391.1																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1240-1242)ctC>ctG		transmembrane and coiled-coil domains 3							23.0	21.0	22.0					13																	114203965		876	1991	2867	SO:0001624	3_prime_UTR_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114203965C>G	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.*112C>G	13.37:g.114203965C>G			Somatic				TMCO3_ENST00000434316.2_3'UTR	p.L414L			WXS	Illumina GAIIx	Phase_I	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		8	1553	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	0					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.1242C>G	CCDS9537.1																																																																																				0.498	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		4	13	4	13	---	---	---	---
ATG14	22863	broad.mit.edu	37	14	55844786	55844786	+	Silent	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:55844786A>G	ENST00000247178.5	-	8	1037	c.1002T>C	c.(1000-1002)ttT>ttC	p.F334F		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	334					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TTTCGCCACAAAATTCACTGT	0.289																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1000-1002)ttT>ttC		autophagy related 14							57.0	60.0	59.0					14																	55844786		2203	4294	6497	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55844786A>G	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1002T>C	14.37:g.55844786A>G			Somatic					p.F334F	NM_014924.4	NP_055739.2	WXS	Illumina GAIIx	Phase_I	Q6ZNE5	BAKOR_HUMAN			8	1037	-			334					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.1002T>C	CCDS32087.1																																																																																				0.289	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		8	34	8	34	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77492213	77492213	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:77492213C>A	ENST00000238647.3	-	1	2821	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	641					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AACTGCCATCCTTGGGCGAGT	0.682																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(1921-1923)aaG>aaT		interferon regulatory factor 2 binding protein-like							16.0	15.0	15.0					14																	77492213		2168	4242	6410	SO:0001583	missense	64207					nucleus		g.chr14:77492213C>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1923G>T	14.37:g.77492213C>A	ENSP00000238647:p.Lys641Asn		Somatic					p.K641N	NM_024496.3	NP_078772.1	WXS	Illumina GAIIx	Phase_I	Q9H1B7	I2BPL_HUMAN			1	2821	-			641					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1923G>T	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303424	0.60195	.	.	ENSG00000119669	ENST00000238647	T	0.66460	-0.21	4.3	3.41	0.39046	.	0.000000	0.85682	U	0.000000	T	0.63212	0.2492	L	0.57536	1.79	0.49582	D	0.999807	P	0.38617	0.64	B	0.41088	0.347	T	0.61884	-0.6971	10	0.39692	T	0.17	.	10.8469	0.46748	0.0:0.9075:0.0:0.0925	.	641	Q9H1B7	I2BPL_HUMAN	N	641	ENSP00000238647:K641N	ENSP00000238647:K641N	K	-	3	2	IRF2BPL	76561966	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.751000	0.26348	1.014000	0.39417	0.462000	0.41574	AAG		0.682	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		7	26	7	26	---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40558520	40558520	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:40558520C>T	ENST00000542403.2	+	3	793	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|PAK6_ENST00000441369.1_Missense_Mutation_p.R228W|PAK6_ENST00000560346.1_Missense_Mutation_p.R228W	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	228	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGAGGAGGCCCGGCCACAGTC	0.672																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(682-684)Cgg>Tgg		p21 protein (Cdc42/Rac)-activated kinase 6																																				SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558520C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.682C>T	15.37:g.40558520C>T	ENSP00000439597:p.Arg228Trp		Somatic				PAK6_ENST00000441369.1_Missense_Mutation_p.R228W|PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000542403.2_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R228W	p.R228W	NM_001276718.1	NP_001263647.1	WXS	Illumina GAIIx	Phase_I	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1594	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	228			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.682C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371753	0.82573	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.79;-0.79;-0.83;-0.79;-0.79	5.48	4.51	0.55191	.	0.244906	0.39083	N	0.001463	T	0.54351	0.1853	N	0.12182	0.205	0.47308	D	0.999389	B;B	0.24132	0.013;0.098	B;B	0.18871	0.005;0.023	T	0.56183	-0.8021	10	0.59425	D	0.04	.	9.0271	0.36236	0.1498:0.7677:0.0:0.0825	.	228;228	Q9NQU5;G5E9R2	PAK6_HUMAN;.	W	228	ENSP00000406873:R228W;ENSP00000401153:R228W;ENSP00000409465:R228W;ENSP00000260404:R228W;ENSP00000439597:R228W	ENSP00000260404:R228W	R	+	1	2	PAK6	38345812	0.940000	0.31905	1.000000	0.80357	0.989000	0.77384	1.790000	0.38734	2.590000	0.87494	0.561000	0.74099	CGG		0.672	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			6	15	6	15	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91827401	91827401	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:91827401A>G	ENST00000394232.1	+	11	2128	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	553					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTACCCGGGAACATCATTTCT	0.537																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1657-1659)aAc>aGc		synaptic vesicle glycoprotein 2B							122.0	109.0	114.0					15																	91827401		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827401A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1658A>G	15.37:g.91827401A>G	ENSP00000377779:p.Asn553Ser		Somatic				SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S	p.N553S	NM_014848.4	NP_055663.1	WXS	Illumina GAIIx	Phase_I	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		11	2128	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		553					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1658A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.652900	0.88056	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.55760	0.5;0.5;0.5	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69011	-0.5258	10	0.21014	T	0.42	-29.7925	15.0605	0.71947	1.0:0.0:0.0:0.0	.	553	Q7L1I2	SV2B_HUMAN	S	402;553;553	ENSP00000443243:N402S;ENSP00000377779:N553S;ENSP00000332818:N553S	ENSP00000332818:N553S	N	+	2	0	SV2B	89628405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.039000	0.93777	2.238000	0.73509	0.477000	0.44152	AAC		0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		22	85	22	85	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7568326	7568326	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:7568326G>A	ENST00000550418.1	+	5	1193	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A74T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	69					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A89T(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTACCCTCCCGCCCAGACGCA	0.642																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - Missense(2)	p.A89T(2)	large_intestine(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(220-222)Gcc>Acc		RNA binding protein, fox-1 homolog (C. elegans) 1							114.0	108.0	110.0					16																	7568326		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568326G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.205G>A	16.37:g.7568326G>A	ENSP00000450031:p.Ala69Thr		Somatic				RBFOX1_ENST00000550418.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T	p.A74T			WXS	Illumina GAIIx	Phase_I	Q9NWB1	RFOX1_HUMAN			2	517	+			69					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.220G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555922	0.27827	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.33654	1.88;1.41;1.72;1.63;1.65;1.82;1.41;1.51;1.72;1.67;1.4	4.67	3.71	0.42584	.	0.140569	0.47093	N	0.000258	T	0.13884	0.0336	N	0.12569	0.235	0.42711	D	0.993641	B;P;B;B;B;B;B;B;B	0.43314	0.021;0.803;0.084;0.093;0.002;0.045;0.0;0.0;0.183	B;B;B;B;B;B;B;B;B	0.25884	0.007;0.064;0.007;0.025;0.006;0.013;0.002;0.001;0.025	T	0.09228	-1.0684	10	0.21540	T	0.41	-4.6637	9.3326	0.38032	0.1769:0.0:0.8231:0.0	.	89;105;112;89;89;89;69;69;112	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	T	69;69;69;112;112;105;105;69;69;89;89;89;89;74	ENSP00000450402:A69T;ENSP00000450031:A69T;ENSP00000447753:A69T;ENSP00000446842:A112T;ENSP00000391269:A112T;ENSP00000447281:A69T;ENSP00000447717:A69T;ENSP00000402745:A89T;ENSP00000309117:A89T;ENSP00000347855:A89T;ENSP00000344196:A74T	ENSP00000309117:A89T	A	+	1	0	RBFOX1	7508327	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.754000	0.55189	0.920000	0.36970	0.557000	0.71058	GCC		0.642	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		36	103	36	103	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70602298	70602298	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:70602298T>C	ENST00000302516.5	+	22	3276	c.3065T>C	c.(3064-3066)aTc>aCc	p.I1022T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1022					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AACCAGCTTATCATCTTTGCT	0.468																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3064-3066)aTc>aCc		splicing factor 3b, subunit 3, 130kDa							160.0	146.0	151.0					16																	70602298		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70602298T>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3065T>C	16.37:g.70602298T>C	ENSP00000305790:p.Ile1022Thr		Somatic					p.I1022T	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			22	3276	+		Ovarian(137;0.0694)	1022					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3065T>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371605	0.61624	.	.	ENSG00000189091	ENST00000302516	T	0.46063	0.88	5.92	5.92	0.95590	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.049098	0.85682	D	0.000000	T	0.41190	0.1148	L	0.52905	1.665	0.80722	D	1	B	0.20887	0.049	B	0.27715	0.082	T	0.26780	-1.0093	10	0.13853	T	0.58	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	1022	Q15393	SF3B3_HUMAN	T	1022	ENSP00000305790:I1022T	ENSP00000305790:I1022T	I	+	2	0	SF3B3	69159799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.884000	0.87274	2.255000	0.74692	0.533000	0.62120	ATC		0.468	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		28	66	28	66	---	---	---	---
APRT	353	broad.mit.edu	37	16	88878005	88878005	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:88878005G>C	ENST00000378364.3	-	2	184	c.140C>G	c.(139-141)gCg>gGg	p.A47G	APRT_ENST00000426324.2_Missense_Mutation_p.A47G|APRT_ENST00000563655.1_Missense_Mutation_p.A47G	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	47					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAGGTGTCGCGCCAGGAGGCC	0.721																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(139-141)gCg>gGg		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						10.0	9.0	9.0					16																	88878005		2125	4204	6329	SO:0001583	missense	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88878005G>C		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.140C>G	16.37:g.88878005G>C	ENSP00000367615:p.Ala47Gly		Somatic				APRT_ENST00000426324.2_Missense_Mutation_p.A47G|APRT_ENST00000563655.1_Missense_Mutation_p.A47G	p.A47G	NM_000485.2	NP_000476.1	WXS	Illumina GAIIx	Phase_I	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	184	-			47					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.140C>G	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257254	0.59321	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99660	-6.32;-6.32	4.77	3.74	0.42951	Phosphoribosyltransferase (1);	0.205916	0.39210	N	0.001423	D	0.99190	0.9719	M	0.79614	2.46	0.39828	D	0.972921	P;P	0.50369	0.81;0.934	P;P	0.53988	0.648;0.739	D	0.99032	1.0821	10	0.87932	D	0	-13.5747	7.1918	0.25831	0.0:0.1573:0.5715:0.2712	.	47;47	G5E9J2;P07741	.;APT_HUMAN	G	47	ENSP00000367615:A47G;ENSP00000397007:A47G	ENSP00000367615:A47G	A	-	2	0	APRT	87405506	0.998000	0.40836	0.904000	0.35570	0.377000	0.30045	3.107000	0.50329	2.194000	0.70268	0.313000	0.20887	GCG		0.721	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	7	4	7	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	663460	663460	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:663460T>A	ENST00000301328.5	-	10	918	c.895A>T	c.(895-897)Agt>Tgt	p.S299C	GLOD4_ENST00000575800.1_5'Flank|GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301329.6_Missense_Mutation_p.S284C			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	299						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACTCGTCACTTTTATCTGCT	0.428																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(850-852)Agt>Tgt		glyoxalase domain containing 4							192.0	157.0	169.0					17																	663460		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:663460T>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.895A>T	17.37:g.663460T>A	ENSP00000301328:p.Ser299Cys		Somatic				GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301328.5_Missense_Mutation_p.S299C	p.S284C	NM_016080.3	NP_057164.3	WXS	Illumina GAIIx	Phase_I	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	9	935	-			299					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.850A>T		.	.	.	.	.	.	.	.	.	.	T	31	5.083184	0.94050	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.55588	0.52;0.52;0.51	6.02	6.02	0.97574	.	0.072810	0.85682	D	0.000000	T	0.77987	0.4213	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.82418	-0.0467	10	0.66056	D	0.02	-18.6634	15.7258	0.77756	0.0:0.0:0.0:1.0	.	275;299;284	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	C	284;487;299;275	ENSP00000301329:S284C;ENSP00000301328:S299C;ENSP00000444315:S275C	ENSP00000301328:S299C	S	-	1	0	GLOD4	610210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.708000	0.84633	2.311000	0.77944	0.533000	0.62120	AGT		0.428	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		18	48	18	48	---	---	---	---
DHRS7C	201140	broad.mit.edu	37	17	9676090	9676090	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:9676090A>G	ENST00000330255.5	-	5	736	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	242					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCACATTTCCAAATGGAAGCT	0.557																																						ENST00000330255.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(724-726)Tgg>Cgg		dehydrogenase/reductase (SDR family) member 7C							66.0	70.0	69.0					17																	9676090		2006	4202	6208	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676090A>G		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.724T>C	17.37:g.9676090A>G	ENSP00000327975:p.Trp242Arg		Somatic				DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	p.W242R	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	WXS	Illumina GAIIx	Phase_I	A6NNS2	DRS7C_HUMAN			5	736	-								B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.724T>C	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379989	0.42207	.	.	ENSG00000184544	ENST00000330255	D	0.86030	-2.06	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.887861	0.10290	N	0.692442	T	0.81654	0.4868	L	0.43152	1.355	0.44188	D	0.997	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.73193	-0.4060	10	0.41790	T	0.15	.	13.6875	0.62524	1.0:0.0:0.0:0.0	.	242;238	A6NNS2;B9EJH3	DRS7C_HUMAN;.	R	242	ENSP00000327975:W242R	ENSP00000327975:W242R	W	-	1	0	DHRS7C	9616815	1.000000	0.71417	0.945000	0.38365	0.947000	0.59692	5.285000	0.65633	2.059000	0.61396	0.533000	0.62120	TGG		0.557	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		9	36	9	36	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	rs193921065		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		36	87	36	87	---	---	---	---
GH1	2688	broad.mit.edu	37	17	61995198	61995198	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:61995198G>T	ENST00000323322.5	-	4	420	c.378C>A	c.(376-378)agC>agA	p.S126R	GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	126					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CGTACACCAGGCTGTTGGCGA	0.612																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(376-378)agC>agA		growth hormone 1							67.0	66.0	66.0					17																	61995198		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995198G>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.378C>A	17.37:g.61995198G>T	ENSP00000312673:p.Ser126Arg		Somatic				CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000342364.4_Intron	p.S126R	NM_000515.3	NP_000506.2	WXS	Illumina GAIIx	Phase_I	P01241	SOMA_HUMAN			4	420	-			126					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.378C>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	6.987	0.552185	0.13374	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.90620	-2.7;-2.7;-2.7	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.526860	0.21926	N	0.067084	D	0.88055	0.6334	M	0.68593	2.085	0.80722	D	1	B;B;B	0.24368	0.012;0.102;0.102	B;B;B	0.31290	0.049;0.127;0.127	D	0.86076	0.1541	10	0.66056	D	0.02	.	5.8888	0.18896	0.151:0.0:0.849:0.0	.	86;126;111	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	R	126;111;86	ENSP00000312673:S126R;ENSP00000408486:S111R;ENSP00000343791:S86R	ENSP00000312673:S126R	S	-	3	2	GH1	59348930	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	1.284000	0.33249	1.594000	0.50039	0.298000	0.19748	AGC		0.612	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		20	65	20	65	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38056575	38056575	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:38056575T>G	ENST00000328550.2	-	4	854	c.755A>C	c.(754-756)gAa>gCa	p.E252A	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	252			E -> D (in dbSNP:rs28512414). {ECO:0000269|PubMed:11042152}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTTACATTCATATGGTTT	0.368																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(754-756)gAa>gCa		zinc finger protein 571							59.0	58.0	59.0					19																	38056575		2203	4297	6500	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056575T>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.755A>C	19.37:g.38056575T>G	ENSP00000333660:p.Glu252Ala		Somatic				ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA	p.E252A			WXS	Illumina GAIIx	Phase_I	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	854	-			252		E -> D (in dbSNP:rs28512414).			Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.755A>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766864	0.31320	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.21932	1.98;1.98;1.98	3.87	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	N	0.21240	0.645	0.21822	N	0.999521	B	0.20780	0.048	B	0.32211	0.142	T	0.32079	-0.9920	9	0.51188	T	0.08	.	8.7548	0.34639	0.0:0.0:0.3717:0.6283	.	252	Q7Z3V5	ZN571_HUMAN	A	252	ENSP00000333660:E252A;ENSP00000392638:E252A;ENSP00000351594:E252A	ENSP00000333660:E252A	E	-	2	0	ZNF571	42748415	0.000000	0.05858	0.991000	0.47740	0.916000	0.54674	0.127000	0.15790	0.501000	0.28013	0.260000	0.18958	GAA		0.368	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		14	22	14	22	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43244510	43244510	+	Silent	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:43244510G>A	ENST00000327495.5	-	1	211	c.27C>T	c.(25-27)tgC>tgT	p.C9C	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Silent_p.C9C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	9					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCGCTGTGTGCAGGGAGGGG	0.607																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(25-27)tgC>tgT		pregnancy specific beta-1-glycoprotein 3							140.0	154.0	149.0					19																	43244510		1511	2707	4218	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43244510G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.27C>T	19.37:g.43244510G>A			Somatic				PSG3_ENST00000595140.1_Silent_p.C9C	p.C9C	NM_021016.3	NP_066296.2	WXS	Illumina GAIIx	Phase_I	Q16557	PSG3_HUMAN			1	211	-		Prostate(69;0.00682)	9					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.27C>T	CCDS12611.1																																																																																				0.607	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		44	113	44	113	---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45856355	45856355	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:45856355T>C	ENST00000391945.4	-	19	1894	c.1817A>G	c.(1816-1818)gAg>gGg	p.E606G	ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	606	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTCGATTCCCTCGGACACTTT	0.642			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1816-1818)gAg>gGg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							53.0	54.0	53.0					19																	45856355		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45856355T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1817A>G	19.37:g.45856355T>C	ENSP00000375809:p.Glu606Gly		Somatic				ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	p.E606G	NM_000400.3	NP_000391.1	WXS	Illumina GAIIx	Phase_I	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	19	1894	-		Ovarian(192;0.0728)|all_neural(266;0.112)	606			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1817A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617044	0.66672	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.95518	-3.73;-3.73	5.65	5.65	0.86999	Helicase, ATP-dependent, c2 type (1);	0.050890	0.85682	D	0.000000	D	0.98877	0.9620	H	0.99758	4.755	0.80722	D	1	D;D;D	0.89917	0.987;0.974;1.0	D;D;D	0.97110	0.969;0.944;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.974	13.8286	0.63366	0.0:0.0:0.0:1.0	.	528;606;299	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	G	556;582;606;528	ENSP00000375809:E606G;ENSP00000375808:E528G	ENSP00000375805:E556G	E	-	2	0	ERCC2	50548195	1.000000	0.71417	0.977000	0.42913	0.066000	0.16364	5.422000	0.66453	2.154000	0.67381	0.459000	0.35465	GAG		0.642	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		19	40	19	40	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29632688	29632688	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr20:29632688A>G	ENST00000278882.3	+	8	883	c.503A>G	c.(502-504)aAa>aGa	p.K168R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K168R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	168										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGGCTCAGAAAGATGGATTT	0.318																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(502-504)aAa>aGa																																						SO:0001583	missense	284802							g.chr20:29632688A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.503A>G	20.37:g.29632688A>G	ENSP00000278882:p.Lys168Arg		Somatic				FRG1B_ENST00000358464.4_Missense_Mutation_p.K168R	p.K168R			WXS	Illumina GAIIx	Phase_I					8	883	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.503A>G		.	.	.	.	.	.	.	.	.	.	a	11.84	1.759510	0.31137	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.44	1.44	0.22558	.	0.168626	0.51477	U	0.000099	T	0.42539	0.1207	.	.	.	0.23765	N	0.9969	D	0.54601	0.967	P	0.58780	0.845	T	0.20338	-1.0278	8	0.19590	T	0.45	.	6.9831	0.24713	1.0:0.0:0.0:0.0	.	168	Q9BZ01	FRG1B_HUMAN	R	168	.	ENSP00000278882:K168R	K	+	2	0	FRG1B	28246349	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	4.158000	0.58150	0.925000	0.37094	0.327000	0.21459	AAA		0.318	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		23	604	23	604	---	---	---	---
BTG3	10950	broad.mit.edu	37	21	18966461	18966461	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr21:18966461G>A	ENST00000348354.6	-	5	965	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	BTG3_ENST00000339775.6_Missense_Mutation_p.H281Y	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	237					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CGGTCACAATGCATTCCAGGA	0.413																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(841-843)Cat>Tat		BTG family, member 3							128.0	101.0	110.0					21																	18966461		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966461G>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.709C>T	21.37:g.18966461G>A	ENSP00000284879:p.His237Tyr		Somatic				BTG3_ENST00000348354.6_Missense_Mutation_p.H237Y	p.H281Y	NM_001130914.1	NP_001124386.1	WXS	Illumina GAIIx	Phase_I	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	994	-			237					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.841C>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358816	0.41801	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	3.88	3.88	0.44766	.	0.000000	0.49916	D	0.000130	T	0.20618	0.0496	N	0.08118	0	0.25058	N	0.991089	D;P	0.56968	0.978;0.659	P;B	0.47528	0.549;0.403	T	0.08827	-1.0703	9	0.87932	D	0	-18.7703	11.6489	0.51277	0.0:0.0:1.0:0.0	.	281;237	Q14201-2;Q14201	.;BTG3_HUMAN	Y	281;237	.	ENSP00000344609:H281Y	H	-	1	0	BTG3	17888332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.748000	0.38308	2.471000	0.83476	0.591000	0.81541	CAT		0.413	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		22	55	22	55	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27680743	27680756	+	Frame_Shift_Del	DEL	CTGGATGGTGCTTC	CTGGATGGTGCTTC	-	rs61747068	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:27680743_27680756delCTGGATGGTGCTTC	ENST00000260570.3	-	28	3166_3179	c.3063_3076delGAAGCACCATCCAG	c.(3061-3078)gggaagcaccatccagatfs	p.KHHPD1022fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1022					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGAGGAGATCTGGATGGTGCTTCCCTACCAGGC	0.514																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(3061-3078)gggaagcaccatccagatfs		intraflagellar transport 172 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27680743_27680756delCTGGATGGTGCTTC	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3063_3076delGAAGCACCATCCAG	2.37:g.27680743_27680756delCTGGATGGTGCTTC	ENSP00000260570:p.Lys1022fs		Somatic					p.KHHPD1022fs	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			28	3166_3179	-	Acute lymphoblastic leukemia(172;0.155)		1022					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.3063_3076delGAAGCACCATCCAG	CCDS1755.1																																																																																				0.514	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	56	9	56	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877752	82877752	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:82877752delA	ENST00000298281.4	+	5	2265	c.1813delA	c.(1813-1815)aaafs	p.K605fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	605					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAAGAAAATAAAAGGTATGA	0.323																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1813-1815)aaafs		PCF11 cleavage and polyadenylation factor subunit							72.0	76.0	75.0					11																	82877752		1667	3595	5262	SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877752delA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1813delA	11.37:g.82877752delA	ENSP00000298281:p.Lys605fs		Somatic					p.K605fs	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			5	2265	+			605					A6H8W7|O43671|Q6P0X8	Frame_Shift_Del	DEL	ENST00000298281.4	37	c.1813delA	CCDS44689.1																																																																																				0.323	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		21	49	21	49	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83676415	83676427	+	Frame_Shift_Del	DEL	TGGGTTTGCCAAC	TGGGTTTGCCAAC	-	rs569113405|rs144952538		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:83676415_83676427delTGGGTTTGCCAAC	ENST00000532653.1	-	8	1128_1140	c.826_838delGTTGGCAAACCCA	c.(826-840)gttggcaaacccactfs	p.VGKPT276fs	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs|DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000398309.2_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	239	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TAAATGGTAGTGGGTTTGCCAACTTTTAAATAA	0.371																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(826-840)gttggcaaacccactfs		discs, large homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83676415_83676427delTGGGTTTGCCAAC	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.826_838delGTTGGCAAACCCA	11.37:g.83676415_83676427delTGGGTTTGCCAAC	ENSP00000435849:p.Val276fs		Somatic				DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs	p.VGKPT276fs	NM_001364.3	NP_001355.2	WXS	Illumina GAIIx	Phase_I	Q15700	DLG2_HUMAN			8	1296_1308	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	276			PDZ 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Del	DEL	ENST00000532653.1	37	c.826_838delGTTGGCAAACCCA																																																																																					0.371	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		12	82	12	82	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7753140	7753146	+	Splice_Site	DEL	AATGCCA	AATGCCA	-			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:7753140_7753146delAATGCCA	ENST00000448097.2	+	12	3773_3779	c.3442_3448delAATGCCA	c.(3442-3450)aatgccaag>ag	p.NAK1148fs	KDM6B_ENST00000254846.5_Splice_Site_p.NAK1148fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1148					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCGCAGGAATGCCAAGGTGAAAGG	0.565																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3442-3450)aatgccaag>ag		lysine (K)-specific demethylase 6B																																				SO:0001630	splice_region_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753140_7753146delAATGCCA	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3441-1AATGCCA>-	17.37:g.7753140_7753146delAATGCCA			Somatic				KDM6B_ENST00000448097.2_Splice_Site_p.NAK1148fs	p.NAK1148fs	NM_001080424.1	NP_001073893.1	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			12	3831_3837	+			1148					C9IZ40|Q96G33	Splice_Site	DEL	ENST00000448097.2	37	c.3442_3448delAATGCCA																																																																																					0.565	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	Frame_Shift_Del	27	88	27	88	---	---	---	---
