#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS19	171019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129015567	129015567	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:129015567G>A	ENST00000274487.4	+	17	2744	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	867	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E867K(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGCCTCTGGGAGAAGATCTC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											104.0	101.0	102.0					5																	129015567		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2599G>A	5.37:g.129015567G>A	ENSP00000274487:p.Glu867Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253362	0.95336	.	.	ENSG00000145808	ENST00000274487	T	0.64438	-0.1	4.54	4.54	0.55810	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	D	0.83899	0.5354	M	0.94142	3.5	0.80722	D	1	D	0.63046	0.992	P	0.62885	0.908	D	0.88608	0.3154	9	.	.	.	.	18.6008	0.91247	0.0:0.0:1.0:0.0	.	867	Q8TE59	ATS19_HUMAN	K	867	ENSP00000274487:E867K	.	E	+	1	0	ADAMTS19	129043466	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.820000	0.92003	2.794000	0.96219	0.650000	0.86243	GAG		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2		NM_133638	
AGL	178	hgsc.bcm.edu;ucsc.edu	37	1	100336394	100336394	+	Silent	SNP	G	G	A	rs181804327		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:100336394G>A	ENST00000294724.4	+	7	1405	c.927G>A	c.(925-927)gcG>gcA	p.A309A	AGL_ENST00000361302.3_Silent_p.A293A|AGL_ENST00000370165.3_Silent_p.A309A|AGL_ENST00000370161.2_Silent_p.A293A|AGL_ENST00000361915.3_Silent_p.A309A|AGL_ENST00000370163.3_Silent_p.A309A|AGL_ENST00000361522.4_Silent_p.A292A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	309					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.A309A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCAACAAAGCGGTTGAGCAAT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		15800	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											33.0	38.0	36.0					1																	100336394		2178	4282	6460	SO:0001819	synonymous_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.927G>A	1.37:g.100336394G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028	
ALDH6A1	4329	broad.mit.edu;hgsc.bcm.edu	37	14	74531621	74531621	+	Silent	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr14:74531621C>A	ENST00000553458.1	-	11	1505	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000555126.1_Silent_p.V186V|ALDH6A1_ENST00000350259.4_Silent_p.V456V|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	469					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.V469V(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CATTCACTCCCACCTAAAACA	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	39.0	38.0					14																	74531621		2203	4300	6503	SO:0001819	synonymous_variant	4329			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.1407G>T	14.37:g.74531621C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	CCDS9826.1																																																																																				0.448	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			
ANXA7	310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75155821	75155821	+	Intron	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:75155821G>A	ENST00000372921.5	-	5	492				ANXA7_ENST00000492380.1_Intron|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.S161F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATAATCCAAAGAAACAGGAGA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											89.0	87.0	88.0					10																	75155821		2203	4300	6503	SO:0001627	intron_variant	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.435+455C>T	10.37:g.75155821G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	8.464	0.855994	0.17106	.	.	ENSG00000138279	ENST00000372919	T	0.04862	3.54	5.95	5.05	0.67936	.	0.000000	0.41823	U	0.000813	T	0.04137	0.0115	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40608	-0.9554	10	0.66056	D	0.02	.	11.1473	0.48438	0.0842:0.0:0.9158:0.0	.	161	P20073	ANXA7_HUMAN	F	161	ENSP00000362010:S161F	ENSP00000362010:S161F	S	-	2	0	ANXA7	74825827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.001000	0.49488	1.537000	0.49254	0.655000	0.94253	TCT		0.333	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2		NM_001156	
ARHGDIA	396	hgsc.bcm.edu;ucsc.edu	37	17	79826812	79826814	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	GTC	GTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr17:79826812_79826814delGTC	ENST00000269321.7	-	6	688_690	c.553_555delGAC	c.(553-555)gacdel	p.D185del	ARHGDIA_ENST00000580685.1_In_Frame_Del_p.D185del|ARHGDIA_ENST00000584461.1_Intron|ARHGDIA_ENST00000400721.4_In_Frame_Del_p.D141del|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.D110del|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.D185del	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	185			Missing (in NPHS8; produces mislocalization into the nucleus, hyperactivation of Rho-GTPases RHOA, RAC1 and CDC42 and impaired cell motility). {ECO:0000269|PubMed:23434736}.		cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGTCGGTCTTGTCGTCGTCTGTG	0.64																																																	0																																										SO:0001651	inframe_deletion	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.553_555delGAC	17.37:g.79826818_79826820delGTC	ENSP00000269321:p.Asp185del	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	In_Frame_Del	DEL	ENST00000269321.7	37	CCDS11788.1																																																																																				0.640	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2		NM_004309	
BMPER	168667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	34085973	34085973	+	Missense_Mutation	SNP	A	A	G	rs200035524		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:34085973A>G	ENST00000297161.2	+	8	1006	c.632A>G	c.(631-633)cAc>cGc	p.H211R	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Missense_Mutation_p.H211R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	211	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.H211R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTCCCCAGCACCTTAGTCAC	0.423													A|||	1	0.000199681	0.0	0.0	5008	,	,		20469	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											149.0	136.0	141.0					7																	34085973		2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.632A>G	7.37:g.34085973A>G	ENSP00000297161:p.His211Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	15.46	2.840266	0.51057	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.71103	-0.54;-0.54	5.83	5.83	0.93111	von Willebrand factor, type C (4);	0.089780	0.85682	D	0.000000	T	0.65059	0.2655	L	0.50333	1.59	0.58432	D	0.999999	B	0.16166	0.016	B	0.19148	0.024	T	0.60271	-0.7296	10	0.16420	T	0.52	.	15.8572	0.78989	1.0:0.0:0.0:0.0	.	211	Q8N8U9	BMPER_HUMAN	R	211	ENSP00000297161:H211R;ENSP00000393950:H211R	ENSP00000297161:H211R	H	+	2	0	BMPER	34052498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.847000	0.86896	2.226000	0.72624	0.533000	0.62120	CAC		0.423	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2		NM_133468	
FAM207A	85395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46363676	46363676	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr21:46363676G>A	ENST00000291634.6	+	2	255	c.207G>A	c.(205-207)ctG>ctA	p.L69L	FAM207A_ENST00000397826.3_Silent_p.L69L	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	69								p.L69L(1)									AGCTGGAGCTGGACGTGAGGA	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	86.0	93.0					21																	46363676		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.207G>A	21.37:g.46363676G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000291634.6	37	CCDS13718.1																																																																																				0.582	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1		NM_058190	
IDNK	414328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86258688	86258688	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr9:86258688T>C	ENST00000376419.4	+	5	561	c.557T>C	c.(556-558)aTg>aCg	p.M186T	IDNK_ENST00000277124.8_Missense_Mutation_p.M140T|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000454393.1_Missense_Mutation_p.M229T	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	186					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)	p.M140T(1)									ACCCTAAAAATGAAATGACAA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											34.0	38.0	36.0					9																	86258688		2197	4299	6496	SO:0001583	missense	0			BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"""chromosome 9 open reading frame 103"""	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.557T>C	9.37:g.86258688T>C	ENSP00000365601:p.Met186Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A5PLN6|Q5T6J6	Missense_Mutation	SNP	ENST00000376419.4	37	CCDS35048.2	.	.	.	.	.	.	.	.	.	.	T	7.341	0.620980	0.14193	.	.	ENSG00000148057	ENST00000277124;ENST00000376419;ENST00000454393	T;T;T	0.29917	1.55;1.55;1.55	4.92	-2.47	0.06442	.	2.038640	0.02260	N	0.067451	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11155	-1.0599	10	0.12103	T	0.63	-21.9416	1.0034	0.01482	0.1986:0.2205:0.3373:0.2436	.	186	Q5T6J7	GNTK_HUMAN	T	140;186;229	ENSP00000277124:M140T;ENSP00000365601:M186T;ENSP00000403290:M229T	ENSP00000277124:M140T	M	+	2	0	C9orf103	85448508	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.107000	0.15375	-0.046000	0.13446	-0.328000	0.08392	ATG		0.408	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2		NM_001001551	
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu	37	17	48703992	48703992	+	Missense_Mutation	SNP	C	C	A	rs367861396		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr17:48703992C>A	ENST00000359106.5	+	38	7014	c.7014C>A	c.(7012-7014)agC>agA	p.S2338R	CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2200R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2238R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S2166R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2248R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2211R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2327R|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2282R|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2259R|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S2155R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S2132R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2304R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2193R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2227R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2222R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2188R|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S2211R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2245R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2234R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2220R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2252R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2204R|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2275R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2293R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2267R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.S2338R(2)|p.S2304R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCGTCCAGCGACTCCAAGG	0.637											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					3	Substitution - Missense(3)	kidney(3)											29.0	35.0	33.0					17																	48703992		1940	4120	6060	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.7014C>A	17.37:g.48703992C>A	ENSP00000352011:p.Ser2338Arg	Somatic	956	WXS	Illumina HiSeq	Phase_I	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041041	0.55003	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.5	0.604	0.17547	.	0.731037	0.13402	N	0.390529	T	0.39572	0.1083	L	0.38175	1.15	0.41074	D	0.985472	D;D;D;D;P;D;D;D;D;P;P;P;P;P;D;P;D;D;P;D;D;P;D;P;D	0.76494	0.999;0.986;0.999;0.999;0.935;0.998;0.998;0.994;0.998;0.929;0.929;0.933;0.872;0.862;0.998;0.935;0.998;0.996;0.889;0.994;0.999;0.645;0.994;0.64;0.984	D;P;D;D;P;D;D;P;D;B;B;P;P;P;D;P;D;P;P;P;D;B;P;B;D	0.85130	0.993;0.744;0.997;0.995;0.593;0.956;0.995;0.87;0.995;0.415;0.415;0.77;0.544;0.525;0.956;0.593;0.935;0.884;0.593;0.815;0.993;0.369;0.836;0.307;0.953	T	0.24190	-1.0167	10	0.49607	T	0.09	.	7.1503	0.25606	0.0:0.4551:0.1171:0.4278	.	2188;2200;2193;2275;2248;2220;2252;2211;2238;2155;2166;2267;2234;2327;2227;2282;2245;2315;2293;2211;2204;2259;2222;2338;2132	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	R	2222;2211;2304;2204;2267;2234;2200;2188;2193;2211;2293;2327;2248;2238;2259;2245;2220;2282;2252;2132;2338;2227;2275;2166;2155	ENSP00000353990:S2222R;ENSP00000339302:S2211R;ENSP00000347078:S2304R;ENSP00000409759:S2204R;ENSP00000425522:S2267R;ENSP00000426261:S2234R;ENSP00000425451:S2200R;ENSP00000422407:S2188R;ENSP00000426814:S2193R;ENSP00000427238:S2211R;ENSP00000423112:S2293R;ENSP00000420918:S2327R;ENSP00000426172:S2248R;ENSP00000423045:S2238R;ENSP00000427173:S2259R;ENSP00000426098:S2245R;ENSP00000425698:S2220R;ENSP00000426232:S2282R;ENSP00000423317:S2252R;ENSP00000350979:S2132R;ENSP00000352011:S2338R;ENSP00000414388:S2227R;ENSP00000423155:S2275R;ENSP00000422268:S2166R;ENSP00000421518:S2155R	ENSP00000339302:S2211R	S	+	3	2	CACNA1G	46058991	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.120000	0.31271	0.270000	0.21984	0.561000	0.74099	AGC		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	
CFHR2	3080	broad.mit.edu;hgsc.bcm.edu	37	1	196883638	196883638	+	Intron	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:196883638G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.M397I|CFHR4_ENST00000367418.2_Missense_Mutation_p.M151I|CFHR4_ENST00000251424.4_Missense_Mutation_p.M151I|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.M151I(1)|p.M397I(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTGTGATATGCCTGTTTTTG	0.368																																																	2	Substitution - Missense(2)	kidney(2)											84.0	78.0	80.0					1																	196883638		1869	4099	5968	SO:0001627	intron_variant	10877			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34947G>T	1.37:g.196883638G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37		.	.	.	.	.	.	.	.	.	.	g	3.134	-0.177879	0.06380	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.62941	-0.01;-0.01;-0.01	4.06	1.99	0.26369	Complement control module (3);Sushi/SCR/CCP (3);	.	.	.	.	T	0.51381	0.1671	L	0.35854	1.095	0.09310	N	1	B;B;B	0.31383	0.23;0.321;0.001	B;B;B	0.39068	0.131;0.289;0.006	T	0.47623	-0.9103	9	0.48119	T	0.1	.	3.8316	0.08876	0.1297:0.0:0.6304:0.2399	.	397;398;151	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	I	397;151;151;151	ENSP00000356386:M397I;ENSP00000356388:M151I;ENSP00000251424:M151I	ENSP00000251424:M151I	M	+	3	0	CFHR4	195150261	0.386000	0.25180	0.234000	0.24042	0.020000	0.10135	0.871000	0.28023	1.973000	0.57446	0.406000	0.27484	ATG		0.368	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005666	
COL12A1	1303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	75861721	75861721	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr6:75861721G>T	ENST00000322507.8	-	20	4171	c.3862C>A	c.(3862-3864)Cag>Aag	p.Q1288K	COL12A1_ENST00000345356.6_Missense_Mutation_p.Q124K|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1288K|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1288K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1288	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.Q1288K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAAGTTCTGTTGGCGAATG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											162.0	157.0	159.0					6																	75861721		1936	4157	6093	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3862C>A	6.37:g.75861721G>T	ENSP00000325146:p.Gln1288Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.89|11.89	1.774569|1.774569	0.31411|0.31411	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72|.	5.74|5.74	4.8|4.8	0.61643|0.61643	von Willebrand factor, type A (3);|.	0.150792|.	0.44285|.	D|.	0.000471|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.11201|0.11201	0.11|0.11	0.36229|0.36229	D|D	0.852509|0.852509	B;B|.	0.12630|.	0.0;0.006|.	B;B|.	0.15052|.	0.003;0.012|.	T|T	0.06716|0.06716	-1.0811|-1.0811	10|5	0.33141|.	T|.	0.24|.	.|.	11.4307|11.4307	0.50038|0.50038	0.0:0.0:0.6088:0.3912|0.0:0.0:0.6088:0.3912	.|.	124;1288|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	K|K	1288;1288;124;1288;1288|29	ENSP00000325146:Q1288K;ENSP00000305147:Q124K;ENSP00000412864:Q1288K;ENSP00000421216:Q1288K|.	ENSP00000325146:Q1288K|.	Q|T	-|-	1|2	0|0	COL12A1|COL12A1	75918441|75918441	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.884000|0.884000	0.51177|0.51177	5.442000|5.442000	0.66575|0.66575	2.725000|2.725000	0.93324|0.93324	0.644000|0.644000	0.83932|0.83932	CAG|ACA		0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		NM_004370	
COL5A3	50509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10090547	10090547	+	Nonsense_Mutation	SNP	G	G	A	rs560807981		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr19:10090547G>A	ENST00000264828.3	-	37	2765	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	894	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R894*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCCCTGGTCGCCCATCTTTA	0.522																																																	1	Substitution - Nonsense(1)	kidney(1)											90.0	88.0	89.0					19																	10090547		2203	4300	6503	SO:0001587	stop_gained	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2680C>T	19.37:g.10090547G>A	ENSP00000264828:p.Arg894*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	40	8.150837	0.98678	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.36	-8.3	0.01005	.	0.789981	0.10288	U	0.692760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	8.0619	0.30638	0.0:0.194:0.36:0.4459	.	.	.	.	X	894	.	ENSP00000264828:R894X	R	-	1	2	COL5A3	9951547	0.000000	0.05858	0.001000	0.08648	0.851000	0.48451	-0.828000	0.04419	-0.962000	0.03604	0.467000	0.42956	CGA		0.522	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719	
COQ6	51004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74420179	74420179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr14:74420179G>T	ENST00000334571.2	+	2	245	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	COQ6_ENST00000238709.4_Silent_p.S13S|COQ6_ENST00000554920.1_Nonsense_Mutation_p.E69*|COQ6_ENST00000394026.4_Nonsense_Mutation_p.E44*|COQ6_ENST00000555552.1_3'UTR	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	69					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)	p.E69*(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCTGTTGCTCGAAGCAGGTCC	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											87.0	85.0	86.0					14																	74420179		2203	4300	6503	SO:0001587	stop_gained	51004			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.205G>T	14.37:g.74420179G>T	ENSP00000333946:p.Glu69*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Nonsense_Mutation	SNP	ENST00000334571.2	37	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824075	0.90873	.	.	ENSG00000119723	ENST00000394026;ENST00000334571;ENST00000556300;ENST00000554920;ENST00000545052	.	.	.	5.37	4.48	0.54585	.	0.045812	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.1745	14.0967	0.65027	0.0714:0.0:0.9286:0.0	.	.	.	.	X	44;69;69;69;69	.	ENSP00000333946:E69X	E	+	1	0	COQ6	73489932	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	9.134000	0.94467	1.531000	0.49152	0.650000	0.86243	GAA		0.383	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			
CSGALNACT2	55454	hgsc.bcm.edu;ucsc.edu	37	10	43654206	43654207	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:43654206_43654207insT	ENST00000374466.3	+	3	1040_1041	c.705_706insT	c.(706-708)tttfs	p.F236fs	CSGALNACT2_ENST00000374464.1_Frame_Shift_Ins_p.F236fs	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	236					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGTATGAACTCTTTTTTAAGAA	0.401																																																	0																																										SO:0001589	frameshift_variant	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.711dupT	10.37:g.43654212_43654212dupT	ENSP00000363590:p.Phe236fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Frame_Shift_Ins	INS	ENST00000374466.3	37	CCDS7201.1																																																																																				0.401	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1		NM_018590	
DNAJB5	25822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34997035	34997035	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr9:34997035T>C	ENST00000541010.1	+	3	3838	c.826T>C	c.(826-828)Tgc>Cgc	p.C276R	DNAJB5_ENST00000335998.3_Missense_Mutation_p.C310R|DNAJB5_ENST00000312316.5_Missense_Mutation_p.C276R|DNAJB5_ENST00000453597.3_Missense_Mutation_p.C390R|DNAJB5_ENST00000454002.2_Missense_Mutation_p.C348R|DNAJB5_ENST00000545841.1_Missense_Mutation_p.C276R			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	276					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)	p.C276R(1)|p.C390R(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCTGTGTGGCTGCACTGTGAA	0.552																																																	2	Substitution - Missense(2)	kidney(2)											176.0	171.0	172.0					9																	34997035		2203	4300	6503	SO:0001583	missense	25822			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.826T>C	9.37:g.34997035T>C	ENSP00000443151:p.Cys276Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034729	0.75617	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.37	5.37	0.77165	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77004	0.989;0.972	T	0.74538	-0.3632	10	0.37606	T	0.19	.	14.7075	0.69203	0.0:0.0:0.0:1.0	.	348;276	B4DSA6;O75953	.;DNJB5_HUMAN	R	390;310;276;276;276;348;276	ENSP00000404079:C390R;ENSP00000337626:C310R;ENSP00000312517:C276R;ENSP00000443151:C276R;ENSP00000413684:C348R;ENSP00000441999:C276R	ENSP00000312517:C276R	C	+	1	0	DNAJB5	34987035	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.132000	0.71676	2.248000	0.74166	0.459000	0.35465	TGC		0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			
EVX1	2128	hgsc.bcm.edu	37	7	27285647	27285648	+	In_Frame_Ins	INS	-	-	CCTGCC	rs143308454		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:27285647_27285648insCCTGCC	ENST00000496902.4	+	3	1313_1314	c.827_828insCCTGCC	c.(826-831)cacctg>caCCTGCCcctg	p.279_280insPL	EVX1_ENST00000535619.1_In_Frame_Ins_p.97_98insPL|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	279					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TTCCCATCGCACCTGCCCCTGC	0.743																																																	0										21,4077		0,21,2028						5.3	1.0			14	99,7897		2,95,3901	no	coding	EVX1	NM_001989.3		2,116,5929	A1A1,A1R,RR		1.2381,0.5124,0.9922				120,11974				SO:0001652	inframe_insertion	2128				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.834_839dupCCTGCC	7.37:g.27285648_27285653dupCCTGCC	ENSP00000419266:p.Pro278_Leu279dup	Somatic		WXS	Illumina HiSeq	Phase_I	A4D199|B4DQJ0	In_Frame_Ins	INS	ENST00000496902.4	37	CCDS5413.1																																																																																				0.743	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			
GCNT1	2650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79118095	79118095	+	Silent	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr9:79118095G>T	ENST00000376730.4	+	4	1281	c.798G>T	c.(796-798)ctG>ctT	p.L266L	GCNT1_ENST00000442371.1_Silent_p.L266L|GCNT1_ENST00000536223.1_Silent_p.L266L|GCNT1_ENST00000444201.2_Silent_p.L266L	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	266	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.L266L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATGGAAAGCTGACAAACACAG	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	91.0	100.0					9																	79118095		2203	4300	6503	SO:0001819	synonymous_variant	2650			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.798G>T	9.37:g.79118095G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6DJZ4	Silent	SNP	ENST00000376730.4	37	CCDS6653.1																																																																																				0.468	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1		NM_001097634	
GLS	2744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191792206	191792206	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr2:191792206C>T	ENST00000320717.3	+	12	1681	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	GLS_ENST00000409626.1_Missense_Mutation_p.H46Y|GLS_ENST00000409428.1_5'Flank|GLS_ENST00000338435.4_Missense_Mutation_p.H475Y|GLS_ENST00000409215.1_5'Flank	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	475					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.H475Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GTTTGCTTTCCATGTAAGTAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											109.0	109.0	109.0					2																	191792206		2203	4300	6503	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1423C>T	2.37:g.191792206C>T	ENSP00000317379:p.His475Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663032	0.88251	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.4	5.4	0.78164	Beta-lactamase/transpeptidase-like (1);	0.049098	0.85682	D	0.000000	T	0.53578	0.1805	M	0.72479	2.2	0.80722	D	1	P;P;P;P;P	0.49253	0.921;0.847;0.921;0.847;0.9	B;P;B;P;P	0.47251	0.254;0.542;0.374;0.459;0.478	T	0.58747	-0.7582	10	0.66056	D	0.02	-20.7858	19.3618	0.94442	0.0:1.0:0.0:0.0	.	46;475;129;475;475	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	Y	475;475;46;46	ENSP00000317379:H475Y;ENSP00000340689:H475Y;ENSP00000386417:H46Y;ENSP00000395596:H46Y	ENSP00000317379:H475Y	H	+	1	0	GLS	191500451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.794000	0.96219	0.650000	0.86243	CAT		0.363	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			
KDELR3	11015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38877247	38877247	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr22:38877247T>C	ENST00000216014.4	+	4	554	c.382T>C	c.(382-384)Tca>Cca	p.S128P	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.S128P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	128					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.S128P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTATCTGGAATCAGTGGCTAT	0.473																																					Ovarian(11;103 529 24120 28493 32980)												2	Substitution - Missense(2)	kidney(2)											157.0	163.0	161.0					22																	38877247		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.382T>C	22.37:g.38877247T>C	ENSP00000216014:p.Ser128Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104634	0.37145	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.58210	0.37;0.35	4.97	4.97	0.65823	.	0.141777	0.49916	D	0.000135	T	0.75642	0.3877	M	0.90082	3.085	0.80722	D	1	B;D	0.56035	0.222;0.974	B;D	0.64042	0.183;0.921	T	0.81647	-0.0838	10	0.72032	D	0.01	.	14.8235	0.70091	0.0:0.0:0.0:1.0	.	128;128	O43731;O43731-2	ERD23_HUMAN;.	P	128	ENSP00000216014:S128P;ENSP00000386918:S128P	ENSP00000216014:S128P	S	+	1	0	KDELR3	37207193	1.000000	0.71417	0.454000	0.27019	0.287000	0.27160	2.946000	0.49050	2.098000	0.63641	0.528000	0.53228	TCA		0.473	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			
CFAP74	85452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1919956	1919956	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:1919956C>G	ENST00000434971.2	-	4	323	c.291G>C	c.(289-291)aaG>aaC	p.K97N				Q69YW0	CA222_HUMAN		0								p.K97N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCACCTCATCTTCTCAGTGA	0.587																																																	2	Substitution - Missense(2)	kidney(2)											87.0	91.0	90.0					1																	1919956		2084	4225	6309	SO:0001583	missense	85452																														ENST00000434971.2:c.291G>C	1.37:g.1919956C>G	ENSP00000408078:p.Lys97Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252086	0.22880	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.62498	0.02;0.05	3.89	-2.12	0.07165	.	0.082857	0.45867	D	0.000325	T	0.68705	0.3030	M	0.67953	2.075	0.20764	N	0.999859	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.59958	-0.7356	10	0.66056	D	0.02	-17.8513	4.7183	0.12906	0.0:0.4279:0.1807:0.3914	.	97;97	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	N	97;88;97	ENSP00000367853:K88N;ENSP00000408078:K97N	ENSP00000270720:K97N	K	-	3	2	C1orf222	1909816	0.019000	0.18553	0.048000	0.18961	0.124000	0.20399	-0.510000	0.06328	-0.514000	0.06488	-0.391000	0.06502	AAG		0.587	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				
KIF20A	10112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137522079	137522079	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:137522079C>T	ENST00000394894.3	+	18	2540	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C	KIF20A_ENST00000508792.1_Missense_Mutation_p.R754C	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	772	Globular. {ECO:0000255}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.R772C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAAAACTTCGTCAAGCCTT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											90.0	84.0	86.0					5																	137522079		2203	4300	6503	SO:0001583	missense	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2314C>T	5.37:g.137522079C>T	ENSP00000378356:p.Arg772Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822500	0.71028	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.73258	-0.66;-0.73	5.98	5.98	0.97165	.	0.000000	0.44688	D	0.000422	T	0.81721	0.4882	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.82416	-0.0468	10	0.87932	D	0	-11.4668	15.1856	0.72999	0.1409:0.8591:0.0:0.0	.	754;772	B4DL79;O95235	.;KI20A_HUMAN	C	772;754	ENSP00000378356:R772C;ENSP00000420880:R754C	ENSP00000378356:R772C	R	+	1	0	KIF20A	137549978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.991000	0.49409	2.836000	0.97738	0.655000	0.94253	CGT		0.473	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1		NM_005733	
LMOD3	56203	hgsc.bcm.edu	37	3	69171497	69171499	+	In_Frame_Del	DEL	AGA	AGA	-	rs139192915|rs398105991	byFrequency	TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr3:69171497_69171499delAGA	ENST00000420581.2	-	1	218_220	c.39_41delTCT	c.(37-42)cttctc>ctc	p.13_14LL>L	LMOD3_ENST00000475434.1_In_Frame_Del_p.13_14LL>L|LMOD3_ENST00000489031.1_In_Frame_Del_p.13_14LL>L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	13						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L14delL(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTCCTCATCGAGAAGTTCTTCTT	0.36														58	0.0115815	0.0	0.0115	5008	,	,		17202	0.001		0.0298	False		,,,				2504	0.0194																2	Deletion - In frame(2)	kidney(2)								14,3540		1,12,1764						-0.2	0.0		dbSNP_134	42	225,7605		5,215,3695	no	coding	LMOD3	NM_198271.3		6,227,5459	A1A1,A1R,RR		2.8736,0.3939,2.0994				239,11145				SO:0001651	inframe_deletion	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.39_41delTCT	3.37:g.69171497_69171499delAGA	ENSP00000414670:p.Leu14del	Somatic		WXS	Illumina HiSeq	Phase_I	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	In_Frame_Del	DEL	ENST00000420581.2	37	CCDS46862.1																																																																																				0.360	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1		XM_067529	
LRWD1	222229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	102106463	102106463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:102106463G>T	ENST00000292616.5	+	2	432	c.280G>T	c.(280-282)Gag>Tag	p.E94*	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	94					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.E94*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCCAAGCTCGAGGAACTCAG	0.637																																																	1	Substitution - Nonsense(1)	kidney(1)											46.0	45.0	45.0					7																	102106463		2203	4300	6503	SO:0001587	stop_gained	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.280G>T	7.37:g.102106463G>T	ENSP00000292616:p.Glu94*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Nonsense_Mutation	SNP	ENST00000292616.5	37	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241923	0.58995	.	.	ENSG00000161036	ENST00000292616	.	.	.	5.19	4.28	0.50868	.	0.101651	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.4142	14.5303	0.67920	0.0:0.1475:0.8525:0.0	.	.	.	.	X	94	.	ENSP00000292616:E94X	E	+	1	0	LRWD1	101893468	1.000000	0.71417	0.809000	0.32408	0.259000	0.26198	5.608000	0.67654	1.138000	0.42230	0.561000	0.74099	GAG		0.637	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1		NM_152892	
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106848542	106848542	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr4:106848542G>T	ENST00000379987.2	+	3	438	c.222G>T	c.(220-222)aaG>aaT	p.K74N	RP11-710F7.2_ENST00000512514.1_RNA|NPNT_ENST00000453617.2_Missense_Mutation_p.K91N|NPNT_ENST00000513430.1_3'UTR|RP11-710F7.2_ENST00000511059.1_RNA|NPNT_ENST00000305572.8_Missense_Mutation_p.K74N|NPNT_ENST00000506666.1_Missense_Mutation_p.K74N|NPNT_ENST00000514622.1_Missense_Mutation_p.K74N|NPNT_ENST00000427316.2_Missense_Mutation_p.K74N	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	74	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.K74N(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGCCAAACAAGTGCAAGTGTC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											143.0	116.0	125.0					4																	106848542		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.222G>T	4.37:g.106848542G>T	ENSP00000369323:p.Lys74Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.947806|3.947806	0.73787|0.73787	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;T;D;D;T;T|.	0.87412|.	-2.25;-2.25;0.94;-2.25;-2.25;0.94;-0.24|.	5.77|5.77	4.93|4.93	0.64822|0.64822	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62085|0.62085	0.2399|0.2399	L|L	0.56199|0.56199	1.76|1.76	0.47123|0.47123	D|D	0.999327|0.999327	D;P;P;D;D;D|.	0.76494|.	0.999;0.609;0.609;0.983;0.988;0.999|.	D;B;B;P;P;D|.	0.72625|.	0.972;0.253;0.436;0.833;0.896;0.978|.	T|T	0.60672|0.60672	-0.7217|-0.7217	10|5	0.51188|.	T|.	0.08|.	.|.	11.655|11.655	0.51313|0.51313	0.1446:0.0:0.8554:0.0|0.1446:0.0:0.8554:0.0	.|.	74;74;74;91;74;74|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;NPNT_HUMAN|.	N|L	74;91;74;74;74;74;91|51	ENSP00000369323:K74N;ENSP00000402884:K91N;ENSP00000389252:K74N;ENSP00000422044:K74N;ENSP00000302557:K74N;ENSP00000422474:K74N;ENSP00000426146:K91N|.	ENSP00000302557:K74N|.	K|V	+|+	3|1	2|0	NPNT|NPNT	107067991|107067991	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	2.482000|2.482000	0.45224|0.45224	1.571000|1.571000	0.49722|0.49722	0.650000|0.650000	0.86243|0.86243	AAG|GTG		0.423	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1		NM_198278	
PCDHA5	56143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140201426	140201426	+	Silent	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:140201426C>T	ENST00000529859.1	+	1	66	c.66C>T	c.(64-66)taC>taT	p.Y22Y	PCDHA5_ENST00000378126.3_Silent_p.Y22Y|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.Y22Y|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	22					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y22Y(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGCCTACTGGAAGGCAG	0.577																																																	2	Substitution - coding silent(2)	kidney(2)											57.0	64.0	62.0					5																	140201426		2203	4300	6503	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.66C>T	5.37:g.140201426C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.577	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908	
PCDHB15	56121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140625765	140625765	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:140625765G>A	ENST00000231173.3	+	1	619	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E207K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGCCGAGCTCAGATT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											58.0	56.0	57.0					5																	140625765		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.619G>A	5.37:g.140625765G>A	ENSP00000231173:p.Glu207Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472760	0.43942	.	.	ENSG00000113248	ENST00000231173	T	0.52526	0.66	4.92	2.1	0.27182	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53802	0.1819	M	0.88377	2.95	0.09310	N	1	B	0.27286	0.174	B	0.36666	0.23	T	0.53872	-0.8377	9	0.40728	T	0.16	.	3.7835	0.08690	0.0728:0.2442:0.3102:0.3728	.	207	Q9Y5E8	PCDBF_HUMAN	K	207	ENSP00000231173:E207K	ENSP00000231173:E207K	E	+	1	0	PCDHB15	140605949	0.000000	0.05858	0.159000	0.22649	0.869000	0.49853	-0.452000	0.06787	0.202000	0.20498	-0.324000	0.08512	GAG		0.577	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2		NM_018935	
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu	37	5	140778135	140778135	+	Intron	SNP	G	G	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr5:140778135G>T	ENST00000576222.1	+	1	2546				PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTGCACAGCCTGGCACAA	0.393																																																	0													66.0	66.0	66.0					5																	140778135		1888	4124	6012	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25759G>T	5.37:g.140778135G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.393	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924	
PNLIPRP3	119548	hgsc.bcm.edu;ucsc.edu	37	10	118220558	118220558	+	Missense_Mutation	SNP	G	G	T	rs114674677	byFrequency	TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:118220558G>T	ENST00000369230.3	+	6	792	c.646G>T	c.(646-648)Gtt>Ttt	p.V216F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	216					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.V216I(1)|p.V216F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTGTTGACGTTATTCATAC	0.438																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											140.0	125.0	130.0					10																	118220558		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.646G>T	10.37:g.118220558G>T	ENSP00000358232:p.Val216Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017006	0.75161	.	.	ENSG00000203837	ENST00000369230	D	0.92397	-3.03	4.93	2.85	0.33270	Lipase, N-terminal (1);	0.119302	0.34959	N	0.003545	D	0.95993	0.8695	M	0.90309	3.105	0.28844	N	0.896435	D	0.89917	1.0	D	0.76071	0.987	D	0.91434	0.5168	10	0.87932	D	0	.	10.1136	0.42576	0.2401:0.0:0.7599:0.0	.	216	Q17RR3	LIPR3_HUMAN	F	216	ENSP00000358232:V216F	ENSP00000358232:V216F	V	+	1	0	PNLIPRP3	118210548	0.981000	0.34729	0.006000	0.13384	0.586000	0.36452	1.605000	0.36815	0.537000	0.28751	0.591000	0.81541	GTT		0.438	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404	
PPM1B	5495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44436369	44436369	+	Silent	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr2:44436369T>C	ENST00000282412.4	+	3	1279	c.867T>C	c.(865-867)agT>agC	p.S289S	PPM1B_ENST00000378551.2_Silent_p.S289S|PPM1B_ENST00000345249.4_Silent_p.S2S|PPM1B_ENST00000409895.4_Silent_p.S289S|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Silent_p.S289S	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	289					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.S289S(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATAACATGAGTATTGTACTAG	0.323																																																	3	Substitution - coding silent(3)	kidney(3)											90.0	86.0	87.0					2																	44436369		2203	4300	6503	SO:0001819	synonymous_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.867T>C	2.37:g.44436369T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP	ENST00000282412.4	37	CCDS1817.1																																																																																				0.323	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1		NM_002706	
PRKCB	5579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24046821	24046821	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr16:24046821G>A	ENST00000321728.7	+	5	657	c.482G>A	c.(481-483)cGc>cAc	p.R161H	PRKCB_ENST00000303531.7_Missense_Mutation_p.R161H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	161					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R161H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCCGCGGCCGCATCTACATC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											85.0	75.0	78.0					16																	24046821		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.482G>A	16.37:g.24046821G>A	ENSP00000318315:p.Arg161His	Somatic		WXS	Illumina HiSeq	Phase_I	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448665	0.96205	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.43294	0.95;0.95	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.81482	-0.0913	10	0.72032	D	0.01	.	17.3714	0.87379	0.0:0.0:1.0:0.0	.	161;161	P05771-2;P05771	.;KPCB_HUMAN	H	161	ENSP00000318315:R161H;ENSP00000305355:R161H	ENSP00000305355:R161H	R	+	2	0	PRKCB	23954322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.332000	0.96446	2.509000	0.84616	0.563000	0.77884	CGC		0.612	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2		NM_212535	
RAB34	83871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27041908	27041908	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr17:27041908G>A	ENST00000395245.3	-	9	1241	c.615C>T	c.(613-615)gtC>gtT	p.V205V	RAB34_ENST00000395243.3_Silent_p.V197V|RAB34_ENST00000415040.2_Silent_p.V183V|RAB34_ENST00000450529.1_Silent_p.V197V|RAB34_ENST00000447716.1_Silent_p.V262V|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395242.2_Silent_p.V206V|RAB34_ENST00000301043.6_Silent_p.V205V|RAB34_ENST00000436730.3_Silent_p.V205V	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	205					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)	p.V205V(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGAATTCTCGGACATTCTCAC	0.582																																					Pancreas(175;216 2049 29940 32498 41589)												1	Substitution - coding silent(1)	kidney(1)											59.0	52.0	55.0					17																	27041908		2203	4300	6503	SO:0001819	synonymous_variant	83871			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.615C>T	17.37:g.27041908G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	ENST00000395245.3	37	CCDS11240.1																																																																																				0.582	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1		NM_031934	
SALL3	27164	broad.mit.edu;ucsc.edu	37	18	76753965	76753965	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr18:76753965G>A	ENST00000537592.2	+	2	1974	c.1974G>A	c.(1972-1974)acG>acA	p.T658T	SALL3_ENST00000536229.3_Silent_p.T525T|SALL3_ENST00000575389.2_Silent_p.T658T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	658					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T658T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGATGCAAACGTCGGAAACCT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											27.0	28.0	28.0					18																	76753965		2201	4298	6499	SO:0001819	synonymous_variant	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1974G>A	18.37:g.76753965G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																				0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		NM_171999	
SHPRH	257218	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146273498	146273498	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr6:146273498A>T	ENST00000367505.2	-	3	1014	c.750T>A	c.(748-750)aaT>aaA	p.N250K	SHPRH_ENST00000275233.7_Missense_Mutation_p.N250K|SHPRH_ENST00000438092.2_Missense_Mutation_p.N250K|SHPRH_ENST00000367503.3_Missense_Mutation_p.N250K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	250					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N250K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAATAATAGAATTGTGTAACT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											52.0	49.0	50.0					6																	146273498		1800	4055	5855	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.750T>A	6.37:g.146273498A>T	ENSP00000356475:p.Asn250Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	9.779	1.174842	0.21704	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.72942	-0.69;-0.7;-0.69;-0.69	4.74	3.61	0.41365	.	0.484846	0.21193	N	0.078611	T	0.41696	0.1170	L	0.43152	1.355	0.33171	D	0.548324	B;B;B;P	0.39782	0.275;0.059;0.098;0.688	B;B;B;B	0.37387	0.055;0.022;0.079;0.248	T	0.40646	-0.9552	10	0.36615	T	0.2	-7.2754	5.4768	0.16700	0.6979:0.0:0.3021:0.0	.	139;250;250;139	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	K	250;250;250;250;139	ENSP00000356475:N250K;ENSP00000356473:N250K;ENSP00000412797:N250K;ENSP00000275233:N250K	ENSP00000275233:N250K	N	-	3	2	SHPRH	146315191	1.000000	0.71417	0.230000	0.23976	0.192000	0.23643	2.078000	0.41567	1.770000	0.52166	0.528000	0.53228	AAT		0.328	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2		NM_173082	
SLC19A1	6573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46951439	46951439	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr21:46951439G>A	ENST00000311124.4	-	3	965	c.813C>T	c.(811-813)tcC>tcT	p.S271S	SLC19A1_ENST00000567670.1_Silent_p.S271S|SLC19A1_ENST00000485649.2_Silent_p.S231S|SLC19A1_ENST00000380010.4_Silent_p.S271S	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	271					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)	p.S271S(1)|p.S18S(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCCACCAGAGGGACCACAGGC	0.682																																																	2	Substitution - coding silent(2)	kidney(2)											44.0	56.0	52.0					21																	46951439		2202	4300	6502	SO:0001819	synonymous_variant	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.813C>T	21.37:g.46951439G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	6.529	0.465872	0.12402	.	.	ENSG00000173638	ENST00000417954	.	.	.	4.05	3.16	0.36331	.	.	.	.	.	T	0.56337	0.1978	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50849	-0.8779	4	.	.	.	-27.0301	7.6638	0.28419	0.2013:0.0:0.7987:0.0	.	.	.	.	L	6	.	.	P	-	2	0	SLC19A1	45775867	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	0.807000	0.27140	0.854000	0.35336	0.306000	0.20318	CCC		0.682	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			
SMUG1	23583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54577492	54577492	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr12:54577492T>C	ENST00000508394.2	-	2	295	c.233A>G	c.(232-234)gAa>gGa	p.E78G	SMUG1_ENST00000401977.2_Missense_Mutation_p.E78G|SMUG1_ENST00000513838.1_Missense_Mutation_p.E78G|SMUG1_ENST00000243112.5_Missense_Mutation_p.E78G|SMUG1_ENST00000505128.1_Missense_Mutation_p.E78G|SMUG1_ENST00000514196.1_Missense_Mutation_p.E78G|SMUG1_ENST00000506595.1_Missense_Mutation_p.E78G|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.E78G|SMUG1_ENST00000514685.1_Missense_Mutation_p.E78G	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	78				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)	p.E78G(1)		kidney(1)|large_intestine(4)|lung(1)	6						GAAGAGTACTTCCTTGGGGCC	0.582								Base excision repair (BER), DNA glycosylases																																									1	Substitution - Missense(1)	kidney(1)											73.0	65.0	68.0					12																	54577492		2203	4300	6503	SO:0001583	missense	23583			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.233A>G	12.37:g.54577492T>C	ENSP00000424191:p.Glu78Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.040959	0.35989	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.61	4.61	0.57282	Uracil-DNA glycosylase-like (3);	0.738470	0.13842	N	0.358934	T	0.44307	0.1287	L	0.43152	1.355	0.38601	D	0.95065	B;P;P	0.46142	0.072;0.873;0.859	B;P;B	0.47346	0.036;0.544;0.249	T	0.45775	-0.9238	10	0.49607	T	0.09	.	13.4296	0.61046	0.0:0.0:0.0:1.0	.	78;78;78	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	G	78	ENSP00000421206:E78G;ENSP00000421139:E78G;ENSP00000421894:E78G;ENSP00000338606:E78G;ENSP00000424191:E78G;ENSP00000423629:E78G;ENSP00000243112:E78G;ENSP00000384828:E78G;ENSP00000425974:E78G;ENSP00000423083:E78G;ENSP00000423457:E78G;ENSP00000421790:E78G;ENSP00000427547:E78G;ENSP00000425426:E78G	ENSP00000243112:E78G	E	-	2	0	SMUG1	52863759	0.452000	0.25713	1.000000	0.80357	0.961000	0.63080	1.180000	0.32005	2.070000	0.61991	0.482000	0.46254	GAA		0.582	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3		NM_014311	
SRF	6722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43146557	43146557	+	Silent	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr6:43146557G>A	ENST00000265354.4	+	6	1726	c.1368G>A	c.(1366-1368)caG>caA	p.Q456Q	SRF_ENST00000457278.2_Silent_p.Q252Q	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	456					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)	p.Q456Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCGTCCCCCAGGTGTTCCTGA	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											237.0	221.0	226.0					6																	43146557		2203	4300	6503	SO:0001819	synonymous_variant	6722			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.1368G>A	6.37:g.43146557G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T648	Silent	SNP	ENST00000265354.4	37	CCDS4889.1																																																																																				0.493	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1		NM_003131	
ST8SIA5	29906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	44268797	44268797	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr18:44268797C>T	ENST00000315087.7	-	4	1057	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E102K|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E169K|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	133					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.E133K(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTGTCCACCTCATACTTGAGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											180.0	153.0	162.0					18																	44268797		2203	4300	6503	SO:0001583	missense	29906			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.397G>A	18.37:g.44268797C>T	ENSP00000321343:p.Glu133Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558875	0.86231	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.29655	1.56;1.56;1.56	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.71581	2.175	0.80722	D	1	B;B;P	0.34977	0.136;0.242;0.478	B;B;B	0.35278	0.038;0.105;0.199	T	0.16719	-1.0393	10	0.33940	T	0.23	.	19.5805	0.95465	0.0:1.0:0.0:0.0	.	102;169;133	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	K	133;169;102	ENSP00000321343:E133K;ENSP00000445492:E169K;ENSP00000443683:E102K	ENSP00000321343:E133K	E	-	1	0	ST8SIA5	42522795	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.463000	0.80869	2.629000	0.89072	0.561000	0.74099	GAG		0.602	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1		NM_013305	
TM6SF1	53346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83791521	83791521	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr15:83791521C>G	ENST00000322019.9	+	6	768	c.494C>G	c.(493-495)aCa>aGa	p.T165R	TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Missense_Mutation_p.T168R|TM6SF1_ENST00000565774.1_Missense_Mutation_p.T165R			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	165						integral component of membrane (GO:0016021)		p.T165R(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGTATGGAACACGAATTTGC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											113.0	105.0	108.0					15																	83791521		2202	4299	6501	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.494C>G	15.37:g.83791521C>G	ENSP00000317000:p.Thr165Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774242	0.49786	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.30182	1.54;1.54	6.17	5.26	0.73747	.	0.093719	0.64402	D	0.000001	T	0.31606	0.0802	L	0.56769	1.78	0.80722	D	1	B;B	0.24721	0.11;0.028	B;B	0.17098	0.017;0.017	T	0.05616	-1.0874	10	0.40728	T	0.16	-15.2283	14.3746	0.66865	0.0:0.9287:0.0:0.0713	.	165;165	E9PD04;Q9BZW5	.;TM6S1_HUMAN	R	165;168;165	ENSP00000317000:T165R;ENSP00000368696:T168R	ENSP00000317000:T165R	T	+	2	0	TM6SF1	81582525	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.203000	0.58453	1.627000	0.50400	0.655000	0.94253	ACA		0.358	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003	
TOB2	10766	hgsc.bcm.edu;ucsc.edu	37	22	41832766	41832766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr22:41832766delC	ENST00000327492.3	-	2	1290	c.584delG	c.(583-585)ggcfs	p.G196fs		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	196					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G195fs*9(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TGCTGCCCCGCCCCCCTTCTT	0.657																																																	1	Deletion - Frameshift(1)	large_intestine(1)											21.0	22.0	21.0					22																	41832766		2201	4294	6495	SO:0001589	frameshift_variant	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.584delG	22.37:g.41832766delC	ENSP00000331305:p.Gly196fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Frame_Shift_Del	DEL	ENST00000327492.3	37	CCDS14015.1																																																																																				0.657	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1		NM_016272	
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91123577	91123577	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr14:91123577G>A	ENST00000328459.6	-	11	1403	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	TTC7B_ENST00000357056.2_Missense_Mutation_p.P428S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	428								p.P428S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCATCGTCTGGCTTCAGGCGG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											82.0	78.0	80.0					14																	91123577		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1282C>T	14.37:g.91123577G>A	ENSP00000336127:p.Pro428Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.174271|4.174271	0.78452|0.78452	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000554462|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	.|D;D	.|0.89196	.|-2.48;-2.48	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94984|0.94984	0.8377|0.8377	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94685|0.94685	0.7869|0.7869	5|10	.|0.52906	.|T	.|0.07	-25.7517|-25.7517	19.4363|19.4363	0.94796|0.94796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|428	.|Q86TV6	.|TTC7B_HUMAN	V|S	97|326;428;428;170	.|ENSP00000349564:P428S;ENSP00000336127:P428S	.|ENSP00000336127:P428S	A|P	-|-	2|1	0|0	TTC7B|TTC7B	90193330|90193330	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.295000|0.295000	0.27426|0.27426	9.507000|9.507000	0.97996|0.97996	2.665000|2.665000	0.90641|0.90641	0.585000|0.585000	0.79938|0.79938	GCC|CCA		0.577	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			
UBE2A	7319	hgsc.bcm.edu	37	X	118715555	118715560	+	Splice_Site	DEL	AAATGG	AAATGG	-			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	AAATGG	AAATGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chrX:118715555_118715560delAAATGG	ENST00000371558.2	+	4	411_415	c.237_241delAAATGG	c.(235-243)ccaaatggt>ccgt	p.NG80del	UBE2A_ENST00000371569.5_Splice_Site_p.NG5del|UBE2A_ENST00000346330.3_Intron	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	80					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						TGTTCCATCCAAATGGCAAGTATCAC	0.325								Rad6 pathway																																									0																																										SO:0001630	splice_region_variant	7319			AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.241+1AAATGG>-	X.37:g.118715555_118715560delAAATGG		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	In_Frame_Del	DEL	ENST00000371558.2	37	CCDS14580.1																																																																																				0.325	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1		NM_003336	In_Frame_Del
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191622	10191623	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr3:10191622_10191623insA	ENST00000256474.2	+	3	1455_1456	c.615_616insA	c.(616-618)attfs	p.I206fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.I165fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	206					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I206fs*10(2)|p.I206fs*>9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATCA	0.465		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	3	Complex - frameshift(2)|Insertion - Frameshift(1)	kidney(3)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.616dupA	3.37:g.10191623_10191623dupA	ENSP00000256474:p.Ile206fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.465	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WAPAL	23063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	88259942	88259942	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr10:88259942C>A	ENST00000298767.5	-	3	1530	c.1058G>T	c.(1057-1059)gGa>gTa	p.G353V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	353	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.G353V(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCTAGTCCGTCCAACTGTCCC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											179.0	153.0	162.0					10																	88259942		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1058G>T	10.37:g.88259942C>A	ENSP00000298767:p.Gly353Val	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435364	0.62955	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.32515	1.45	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.55398	-0.8147	10	0.87932	D	0	.	17.1473	0.86769	0.0:1.0:0.0:0.0	.	353;353;396	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	V	438;353;438	ENSP00000298767:G353V	ENSP00000298767:G353V	G	-	2	0	WAPAL	88249922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.860000	0.55995	2.462000	0.83206	0.650000	0.86243	GGA		0.448	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2		NM_015045	
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106811085	106811085	+	Silent	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr8:106811085C>A	ENST00000407775.2	+	7	1123	c.873C>A	c.(871-873)gcC>gcA	p.A291A	ZFPM2_ENST00000517361.1_Silent_p.A159A|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.A159A|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.A22A|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	291					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A291A(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGACAGTGCCCATCAGATTT	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											125.0	129.0	128.0					8																	106811085		2079	4235	6314	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.873C>A	8.37:g.106811085C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.512	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			
ZNF335	63925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44586316	44586316	+	Missense_Mutation	SNP	G	G	T	rs372293555		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr20:44586316G>T	ENST00000322927.2	-	17	2451	c.2351C>A	c.(2350-2352)gCt>gAt	p.A784D	ZNF335_ENST00000426788.1_Missense_Mutation_p.A629D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	784					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.A784D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CGACTCCTCAGCTCCTGGGTG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											53.0	49.0	50.0					20																	44586316		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2351C>A	20.37:g.44586316G>T	ENSP00000325326:p.Ala784Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749948	0.30955	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09350	3.11;2.99	5.02	5.02	0.67125	.	0.517121	0.19701	N	0.108027	T	0.08223	0.0205	N	0.19112	0.55	0.32617	N	0.523848	B;B	0.31859	0.343;0.079	B;B	0.38954	0.286;0.096	T	0.19257	-1.0311	10	0.15952	T	0.53	-6.1699	8.5936	0.33701	0.105:0.0:0.895:0.0	.	629;784	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	784;561;629	ENSP00000325326:A784D;ENSP00000397098:A629D	ENSP00000243961:A561D	A	-	2	0	ZNF335	44019723	1.000000	0.71417	0.999000	0.59377	0.161000	0.22273	2.851000	0.48302	2.620000	0.88729	0.563000	0.77884	GCT		0.622	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095	
ALDH3B2	222	broad.mit.edu	37	11	67433825	67433825	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr11:67433825T>C	ENST00000349015.3	-	5	637	c.199A>G	c.(199-201)Aag>Gag	p.K67E	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.K67E|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	67					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.K67E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GCCAGGACCTTCTCTGTGCCC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											26.0	26.0	26.0					11																	67433825		2199	4293	6492	SO:0001583	missense	222			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.199A>G	11.37:g.67433825T>C	ENSP00000255084:p.Lys67Glu	Somatic		WXS	Illumina GAIIx	Phase_I	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822755	0.32237	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.2	3.01	0.34805	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.290348	0.37715	N	0.001966	T	0.61148	0.2324	L	0.31420	0.93	0.38613	D	0.950947	B	0.20368	0.044	B	0.25614	0.062	T	0.55554	-0.8123	10	0.30854	T	0.27	.	10.1468	0.42769	0.0:0.0:0.3194:0.6806	.	67	P48448	AL3B2_HUMAN	E	67	ENSP00000431595:K67E;ENSP00000255084:K67E;ENSP00000433718:K67E;ENSP00000433466:K67E	ENSP00000255084:K67E	K	-	1	0	ALDH3B2	67190401	0.000000	0.05858	0.971000	0.41717	0.595000	0.36748	0.854000	0.27791	0.708000	0.31955	0.533000	0.62120	AAG		0.657	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1		NM_000695	
EPHA8	2046	broad.mit.edu	37	1	22913109	22913109	+	Silent	SNP	G	G	A	rs201432613		TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr1:22913109G>A	ENST00000166244.3	+	4	1032	c.960G>A	c.(958-960)ccG>ccA	p.P320P	EPHA8_ENST00000538803.1_Silent_p.P320P|EPHA8_ENST00000374644.4_Silent_p.P320P	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	320	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P320P(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTGGACCCGCCGTCCTCAG	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14865	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)											42.0	42.0	42.0					1																	22913109		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.960G>A	1.37:g.22913109G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526	
FAT3	120114	broad.mit.edu	37	11	92616485	92616485	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr11:92616485A>C	ENST00000298047.6	+	23	12880	c.12863A>C	c.(12862-12864)aAc>aCc	p.N4288T	FAT3_ENST00000525166.1_Missense_Mutation_p.N4138T|FAT3_ENST00000409404.2_Missense_Mutation_p.N4288T|FAT3_ENST00000533797.1_Missense_Mutation_p.N623T|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4288					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N4288T(4)|p.N863T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGCCCCCAACCTCCCCGCC	0.657										TCGA Ovarian(4;0.039)																																							6	Substitution - Missense(6)	lung(3)|kidney(3)											23.0	28.0	27.0					11																	92616485		2081	4183	6264	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12863A>C	11.37:g.92616485A>C	ENSP00000298047:p.Asn4288Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.63	3.177419	0.57692	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.89196	-1.11;-1.11;-1.12;-2.48	5.64	5.64	0.86602	.	.	.	.	.	D	0.89726	0.6798	M	0.72353	2.195	0.80722	D	1	P;P	0.48294	0.908;0.889	P;B	0.45753	0.492;0.348	D	0.89114	0.3498	9	0.35671	T	0.21	.	15.8571	0.78987	1.0:0.0:0.0:0.0	.	4288;4288	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4288;4288;4138;623	ENSP00000298047:N4288T;ENSP00000387040:N4288T;ENSP00000432586:N4138T;ENSP00000436399:N623T	ENSP00000298047:N4288T	N	+	2	0	FAT3	92256133	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.319000	0.79040	2.149000	0.67028	0.533000	0.62120	AAC		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491	
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000414583.2	37																																																																																					0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-CZ-5984-01A-11D-1669-08	TCGA-CZ-5984-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e8e486-0c93-4056-88ed-83fd0d5a7f2c	671ebef6-9c6d-48b6-909c-7cfe2c2e44d0	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																																	0													194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365																															4.37:g.69870669C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.448									
