#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COL12A1	1303	broad.mit.edu	37	6	75892975	75892975	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:75892975G>A	ENST00000322507.8	-	10	1991	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	561	VWFA 2. {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)			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						CAGTTTTATCGCAGGATCTCT	0.443																																						ENST00000322507.8																			0				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						c.(1681-1683)gCg>gTg		collagen, type XII, alpha 1							161.0	151.0	154.0					6																	75892975		1914	4130	6044	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892975G>A	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.1682C>T	6.37:g.75892975G>A	ENSP00000325146:p.Ala561Val					COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V	p.A561V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1991	-			561			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1682C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068994	0.93950	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.81330	-1.48;-1.48;-1.48	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.88062	0.6336	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85005	0.0902	10	0.34782	T	0.22	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	561;561	D6RGG3;Q99715	.;COCA1_HUMAN	V	561	ENSP00000325146:A561V;ENSP00000412864:A561V;ENSP00000421216:A561V	ENSP00000325146:A561V	A	-	2	0	COL12A1	75949695	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.813000	0.99286	2.777000	0.95525	0.655000	0.94253	GCG		0.443	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		18	131	0	0	0	0.007413	0	18	131				
F12	2161	broad.mit.edu	37	5	176830536	176830536	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:176830536G>A	ENST00000253496.3	-	11	1381	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CGGTAGGAGCGCACGGCCAAC	0.721									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1333-1335)Cgc>Tgc		coagulation factor XII (Hageman factor)							15.0	18.0	17.0					5																	176830536		2184	4291	6475	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830536G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1333C>T	5.37:g.176830536G>A	ENSP00000253496:p.Arg445Cys						p.R445C	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1381	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	445			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1333C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280221	0.80692	.	.	ENSG00000131187	ENST00000253496	D	0.89196	-2.48	5.31	5.31	0.75309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136308	0.34245	N	0.004124	D	0.91798	0.7405	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.92464	0.5980	10	0.87932	D	0	.	14.4726	0.67526	0.0:0.0:1.0:0.0	.	445	P00748	FA12_HUMAN	C	445	ENSP00000253496:R445C	ENSP00000253496:R445C	R	-	1	0	F12	176763142	0.988000	0.35896	0.999000	0.59377	0.712000	0.41017	2.320000	0.43797	2.489000	0.83994	0.491000	0.48974	CGC		0.721	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			3	16	0	0	0	0.004672	0	3	16				
CCAR2	57805	broad.mit.edu	37	8	22472959	22472959	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:22472959G>A	ENST00000308511.4	+	12	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	CCAR2_ENST00000520861.1_Silent_p.Q84Q|CCAR2_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	409					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CCGAGTTTCAGTACCTGCAGC	0.582																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1225-1227)caG>caA									71.0	82.0	79.0					8																	22472959		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472959G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1227G>A	8.37:g.22472959G>A						KIAA1967_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.Q84Q	p.Q409Q			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	12	1476	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	409					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	c.1227G>A	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954196	0.53293	.	.	ENSG00000158941	ENST00000520738	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.65091	0.2658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61282	-0.7094	4	.	.	.	-27.9391	12.7286	0.57185	0.0:0.1644:0.8355:0.0	.	.	.	.	N	101	.	.	S	+	2	0	KIAA1967	22528904	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.387000	0.44389	2.941000	0.99782	0.655000	0.94253	AGT		0.582	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		30	132	0	0	0	0.012213	0	30	132				
THSD7B	80731	broad.mit.edu	37	2	137814555	137814555	+	Silent	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:137814555G>T	ENST00000409968.1	+	3	883	c.705G>T	c.(703-705)ggG>ggT	p.G235G	THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G|THSD7B_ENST00000413152.2_Silent_p.G204G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	235						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTCTTGGGGAAGAGGAAT	0.463																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(703-705)ggG>ggT		thrombospondin, type I, domain containing 7B							163.0	159.0	160.0					2																	137814555		1893	4132	6025	SO:0001819	synonymous_variant	80731							g.chr2:137814555G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.705G>T	2.37:g.137814555G>T						THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G	p.G235G						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	883	+									Silent	SNP	ENST00000409968.1	37	c.705G>T																																																																																					0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		32	254	1	0	1.61788e-16	0.012213	2.1426e-16	32	254				
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T	rs200131790	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGGCCTGCACGACTCTGCGA	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701278C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701278C>T								NR_003264.2						0	1546	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	63	0	0	0	0.006214	0	5	63				
ABHD8	79575	broad.mit.edu	37	19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:17411726T>C	ENST00000247706.3	-	2	939	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	234							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATTGCTCGCATGTCCTCAGCC	0.617																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(700-702)Atg>Gtg		abhydrolase domain containing 8							81.0	86.0	85.0					19																	17411726		2203	4299	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411726T>C	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.700A>G	19.37:g.17411726T>C	ENSP00000247706:p.Met234Val					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.M234V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	939	-			234					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.700A>G	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192410	0.21954	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.62788	0.0	5.6	5.6	0.85130	.	0.088628	0.85682	D	0.000000	T	0.29223	0.0727	N	0.01109	-1.01	0.45806	D	0.998685	B	0.06786	0.001	B	0.04013	0.001	T	0.38415	-0.9662	10	0.05959	T	0.93	-58.7545	13.7295	0.62779	0.0:0.0:0.0:1.0	.	234	Q96I13	ABHD8_HUMAN	V	234;180	ENSP00000247706:M234V	ENSP00000247706:M234V	M	-	1	0	ABHD8	17272726	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.734000	0.68580	2.135000	0.66039	0.459000	0.35465	ATG		0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		13	143	0	0	0	0.002450	0	13	143				
ZBTB11	27107	broad.mit.edu	37	3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:101384241G>C	ENST00000312938.4	-	4	1770	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTACTGATGACAGGGCAGA	0.438																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1189-1191)tCa>tGa		zinc finger and BTB domain containing 11							84.0	86.0	85.0					3																	101384241		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101384241G>C	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1190C>G	3.37:g.101384241G>C	ENSP00000326200:p.Ser397*						p.S397*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	1770	-			397					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1190C>G	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	37	6.621083	0.97714	.	.	ENSG00000066422	ENST00000312938	.	.	.	4.87	4.87	0.63330	.	0.482216	0.20981	N	0.082214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.6623	16.3246	0.82970	0.0:0.0:1.0:0.0	.	.	.	.	X	397	.	ENSP00000326200:S397X	S	-	2	0	ZBTB11	102866931	0.169000	0.23002	0.017000	0.16124	0.174000	0.22865	3.130000	0.50508	2.635000	0.89317	0.655000	0.94253	TCA		0.438	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		13	106	0	0	0	0.013537	0	13	106				
MDN1	23195	broad.mit.edu	37	6	90426386	90426386	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:90426386G>A	ENST00000369393.3	-	44	6841	c.6726C>T	c.(6724-6726)gaC>gaT	p.D2242D	MDN1_ENST00000428876.1_Silent_p.D2242D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2242					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTAACATTGTCCATCAGAA	0.463																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6724-6726)gaC>gaT		MDN1, midasin homolog (yeast)							104.0	85.0	91.0					6																	90426386		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90426386G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6726C>T	6.37:g.90426386G>A						MDN1_ENST00000428876.1_Silent_p.D2242D	p.D2242D			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	44	6841	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2242					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.6726C>T	CCDS5024.1																																																																																				0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	51	0	0	0	0.006214	0	8	51				
CARF	79800	broad.mit.edu	37	2	203839140	203839140	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:203839140T>C	ENST00000402905.3	+	12	1736	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	CARF_ENST00000320443.8_Missense_Mutation_p.I472T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|CARF_ENST00000414439.1_Missense_Mutation_p.I370T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	472					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTAAATGATATAAAAAATCAC	0.328																																						ENST00000320443.8																			0											c.(1414-1416)aTa>aCa		calcium responsive transcription factor							87.0	91.0	90.0					2																	203839140		1824	4070	5894	SO:0001583	missense	79800							g.chr2:203839140T>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1415T>C	2.37:g.203839140T>C	ENSP00000384006:p.Ile472Thr					CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000402905.2_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T	p.I472T							12	2458	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.1415T>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046323	0.75846	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.04	5.04	0.67666	.	0.189532	0.42548	D	0.000690	T	0.67924	0.2945	M	0.71581	2.175	0.36789	D	0.88475	P;P;P	0.45827	0.642;0.867;0.642	P;P;P	0.51777	0.58;0.679;0.557	T	0.77664	-0.2503	9	0.87932	D	0	-7.4137	14.2623	0.66092	0.0:0.0:0.0:1.0	.	384;396;472	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	T	472;370;396;384;396;472;472	.	ENSP00000316224:I472T	I	+	2	0	ALS2CR8	203547385	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	5.922000	0.70036	2.018000	0.59344	0.455000	0.32223	ATA		0.328	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		8	65	0	0	0	0.003080	0	8	65				
ERN2	10595	broad.mit.edu	37	16	23716455	23716455	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:23716455C>T	ENST00000457008.2	-	8	641	c.603G>A	c.(601-603)ctG>ctA	p.L201L	ERN2_ENST00000256797.4_Silent_p.L249L					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCAGGACGCCAGGTGGCTCA	0.637																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(745-747)ctG>ctA		endoplasmic reticulum to nucleus signaling 2							40.0	40.0	40.0					16																	23716455		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23716455C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.603G>A	16.37:g.23716455C>T						ERN2_ENST00000457008.2_Silent_p.L201L	p.L249L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	915	-			201						Silent	SNP	ENST00000457008.2	37	c.747G>A																																																																																					0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			5	50	0	0	0	0.000602	0	5	50				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	72	0	0	0	0.003080	0	6	72				
COL5A1	1289	broad.mit.edu	37	9	137657572	137657572	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:137657572G>A	ENST00000371817.3	+	21	2494	c.2080G>A	c.(2080-2082)Gga>Aga	p.G694R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	694	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTCCTCCCGGACCTCCCGT	0.637																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2080-2082)Gga>Aga		collagen, type V, alpha 1							91.0	93.0	92.0					9																	137657572		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137657572G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2080G>A	9.37:g.137657572G>A	ENSP00000360882:p.Gly694Arg						p.G694R	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	21	2494	+		Myeloproliferative disorder(178;0.0341)	694	PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).		Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2080G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412147	0.42817	.	.	ENSG00000130635	ENST00000371817	D	0.99186	-5.53	4.28	3.37	0.38596	.	0.000000	0.64402	U	0.000001	D	0.98893	0.9625	H	0.99435	4.565	0.44345	D	0.997235	B	0.15473	0.013	B	0.08055	0.003	D	0.97256	0.9901	10	0.87932	D	0	.	5.38	0.16186	0.1045:0.0:0.693:0.2025	.	694	P20908	CO5A1_HUMAN	R	694	ENSP00000360882:G694R	ENSP00000360882:G694R	G	+	1	0	COL5A1	136797393	1.000000	0.71417	0.543000	0.28128	0.868000	0.49771	5.514000	0.67043	0.783000	0.33636	0.561000	0.74099	GGA		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		21	116	0	0	0	0.002780	0	21	116				
NMUR2	56923	broad.mit.edu	37	5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T	rs368505984		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:151784352C>T	ENST00000255262.3	-	1	488	c.323G>A	c.(322-324)cGc>cAc	p.R108H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGGTAGTTGCGCCACATCTC	0.587																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(322-324)cGc>cAc		neuromedin U receptor 2		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	89.0	94.0	92.0		323	-2.8	1.0	5		92	0,8600		0,0,4300	no	missense	NMUR2	NM_020167.4	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	108/416	151784352	2,13004	2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784352C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.323G>A	5.37:g.151784352C>T	ENSP00000255262:p.Arg108His					NMUR2_ENST00000518933.1_Intron	p.R108H	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	488	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	108					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.323G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790184	0.16258	4.54E-4	0.0	ENSG00000132911	ENST00000255262	T	0.37058	1.22	5.54	-2.77	0.05877	GPCR, rhodopsin-like superfamily (1);	0.631366	0.15933	N	0.237584	T	0.16041	0.0386	N	0.11154	0.105	0.21064	N	0.999792	B	0.13145	0.007	B	0.04013	0.001	T	0.28618	-1.0038	10	0.14252	T	0.57	-3.716	12.1639	0.54119	0.0:0.4542:0.0:0.5458	.	108	Q9GZQ4	NMUR2_HUMAN	H	108	ENSP00000255262:R108H	ENSP00000255262:R108H	R	-	2	0	NMUR2	151764545	0.964000	0.33143	0.962000	0.40283	0.984000	0.73092	0.152000	0.16302	-0.460000	0.07003	-0.136000	0.14681	CGC		0.587	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		19	149	0	0	0	0.007413	0	19	149				
PIPSL	266971	broad.mit.edu	37	10	95719791	95719791	+	RNA	SNP	C	C	A	rs180839525	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:95719791C>A	ENST00000480546.1	-	0	1506					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TCAGGACAACCAAGGTGAACA	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		20456	0.002		0.0	False		,,,				2504	0.0					ENST00000480546.1																			0																																																			0							g.chr10:95719791C>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719791C>A								NR_002319.2						0	1506	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.507	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		6	24	1	0	2.7689e-08	0.001984	3.57042e-08	6	24				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	64	0	0	0	0.009096	0	4	64				
CELSR2	1952	broad.mit.edu	37	1	109803688	109803688	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:109803688G>T	ENST00000271332.3	+	3	4044	c.3983G>T	c.(3982-3984)cGc>cTc	p.R1328L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1328	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGAGTGCTCGCTCAGGCCGT	0.597																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3982-3984)cGc>cTc		cadherin, EGF LAG seven-pass G-type receptor 2							80.0	75.0	77.0					1																	109803688		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803688G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3983G>T	1.37:g.109803688G>T	ENSP00000271332:p.Arg1328Leu						p.R1328L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4044	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1328			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3983G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028650	0.93518	.	.	ENSG00000143126	ENST00000271332	D	0.86627	-2.15	4.77	3.84	0.44239	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91456	0.7303	M	0.87456	2.885	0.52501	D	0.999956	D	0.89917	1.0	D	0.70016	0.967	D	0.90687	0.4610	9	0.32370	T	0.25	.	13.486	0.61366	0.0764:0.0:0.9236:0.0	.	1328	Q9HCU4	CELR2_HUMAN	L	1328	ENSP00000271332:R1328L	ENSP00000271332:R1328L	R	+	2	0	CELSR2	109605211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.554000	0.60760	1.203000	0.43233	0.561000	0.74099	CGC		0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	96	1	0	5.18039e-06	0.003080	6.5087e-06	6	96				
RTEL1	51750	broad.mit.edu	37	20	62320908	62320908	+	Silent	SNP	G	G	T	rs374107857		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:62320908G>T	ENST00000360203.5	+	23	2257	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000318100.4_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGATTGTCACGGGCCTCCCGT	0.662																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1930-1932)acG>acT		regulator of telomere elongation helicase 1							43.0	39.0	40.0					20																	62320908		2194	4288	6482	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62320908G>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1932G>T	20.37:g.62320908G>T						RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T	p.T644T			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		23	2759	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		644						Silent	SNP	ENST00000360203.5	37	c.1932G>T																																																																																					0.662	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	49	1	0	0.004672	0.004672	0.00558361	3	49				
CBX4	8535	broad.mit.edu	37	17	77809099	77809099	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:77809099C>T	ENST00000269397.4	-	5	519	c.342G>A	c.(340-342)aaG>aaA	p.K114K	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	114	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGGCCCTTCCCCTGCG	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(340-342)aaG>aaA		chromobox homolog 4							97.0	92.0	93.0					17																	77809099		2203	4300	6503	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77809099C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.342G>A	17.37:g.77809099C>T			OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.K114K	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	519	-			114			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.342G>A	CCDS32758.1																																																																																				0.657	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		16	127	0	0	0	0.004990	0	16	127				
ATIC	471	broad.mit.edu	37	2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:216177305G>A	ENST00000236959.9	+	2	430	c.104G>A	c.(103-105)gGa>gAa	p.G35E	ATIC_ENST00000435675.1_Missense_Mutation_p.G34E|ATIC_ENST00000540518.1_5'UTR	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	35					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTCGCTTCCGGAGGGACTGCA	0.473			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(100-102)gGa>gAa		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						86.0	85.0	86.0					2																	216177305		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216177305G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.104G>A	2.37:g.216177305G>A	ENSP00000236959:p.Gly35Glu					ATIC_ENST00000236959.9_Missense_Mutation_p.G35E|ATIC_ENST00000540518.1_5'UTR	p.G34E			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	1	492	+		Renal(323;0.229)	35					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.101G>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382004	0.95967	.	.	ENSG00000138363	ENST00000236959;ENST00000435675	D;D	0.82711	-1.64;-1.64	5.41	5.41	0.78517	Methylglyoxal synthase-like domain (4);	0.053204	0.85682	D	0.000000	D	0.93006	0.7774	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94135	0.7392	10	0.87932	D	0	-18.1947	18.8107	0.92057	0.0:0.0:1.0:0.0	.	34;35	E9PBU3;P31939	.;PUR9_HUMAN	E	35;34	ENSP00000236959:G35E;ENSP00000415935:G34E	ENSP00000236959:G35E	G	+	2	0	ATIC	215885550	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.103000	0.89550	2.544000	0.85801	0.655000	0.94253	GGA		0.473	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		20	84	0	0	0	0.008871	0	20	84				
WIPI1	55062	broad.mit.edu	37	17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:66425017A>C	ENST00000262139.5	-	10	1025	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	342					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GAGGATCCAAATTGTACATAT	0.468																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1024-1026)aaT>aaG		WD repeat domain, phosphoinositide interacting 1							110.0	90.0	97.0					17																	66425017		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66425017A>C		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1026T>G	17.37:g.66425017A>C	ENSP00000262139:p.Asn342Lys					WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|WIPI1_ENST00000589459.1_5'UTR	p.N342K	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			10	1025	-			342					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.1026T>G	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511724	0.64522	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.50001	0.76;2.22	5.46	-4.29	0.03721	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.80847	2.515	0.40530	D	0.980921	P	0.51537	0.946	P	0.52957	0.714	T	0.65717	-0.6100	10	0.34782	T	0.22	-21.4324	16.9577	0.86264	0.2194:0.0:0.7806:0.0	.	342	Q5MNZ9	WIPI1_HUMAN	K	342;260	ENSP00000262139:N342K;ENSP00000437345:N260K	ENSP00000262139:N342K	N	-	3	2	WIPI1	63936612	0.002000	0.14202	0.023000	0.16930	0.737000	0.42083	-0.069000	0.11542	-0.905000	0.03871	0.528000	0.53228	AAT		0.468	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		4	56	0	0	0	0.000602	0	4	56				
RAB3GAP1	22930	broad.mit.edu	37	2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:135870798T>G	ENST00000264158.8	+	6	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	147					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGTGCAACCTTCTTCTGAGT	0.398																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(439-441)cTt>cGt		RAB3 GTPase activating protein subunit 1 (catalytic)							170.0	153.0	159.0					2																	135870798		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135870798T>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.440T>G	2.37:g.135870798T>G	ENSP00000264158:p.Leu147Arg					RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR	p.L147R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	6	483	+			147					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.440T>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120222	0.77323	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.53640	0.65;0.61;0.65	5.12	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.69823	2.125	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.963	T	0.62205	-0.6903	10	0.39692	T	0.17	-16.2928	11.4543	0.50171	0.1351:0.0:0.0:0.8649	.	147;147	C9J837;Q15042	.;RB3GP_HUMAN	R	147;103;147	ENSP00000264158:L147R;ENSP00000444306:L103R;ENSP00000411418:L147R	ENSP00000264158:L147R	L	+	2	0	RAB3GAP1	135587268	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.601000	0.82783	0.870000	0.35726	0.260000	0.18958	CTT		0.398	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		16	111	0	0	0	0.004990	0	16	111				
WDR17	116966	broad.mit.edu	37	4	177058761	177058761	+	Splice_Site	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:177058761A>G	ENST00000280190.4	+	10	1586	c.1430A>G	c.(1429-1431)gAg>gGg	p.E477G	WDR17_ENST00000508596.1_Splice_Site_p.E453G|WDR17_ENST00000393643.2_Splice_Site_p.E453G|WDR17_ENST00000507824.2_Splice_Site_p.E460G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	477										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGATTTAATGAGGTAAGATTT	0.249																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.e9+1		WD repeat domain 17							59.0	62.0	61.0					4																	177058761		2201	4293	6494	SO:0001630	splice_region_variant	116966							g.chr4:177058761A>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1431+1A>G	4.37:g.177058761A>G						WDR17_ENST00000507824.2_Splice_Site_p.E460_splice|WDR17_ENST00000508596.1_Splice_Site_p.E453_splice|WDR17_ENST00000280190.4_Splice_Site_p.E477_splice	p.E453_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	9	1610	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	477					E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	c.1359_splice	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440224	0.83993	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60299	3.87;0.2;3.87	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63129	-0.6706	10	0.31617	T	0.26	-22.0046	15.5766	0.76397	1.0:0.0:0.0:0.0	.	453;477	E7EQX0;Q8IZU2	.;WDR17_HUMAN	G	453;453;477;460	ENSP00000422763:E453G;ENSP00000377258:E453G;ENSP00000280190:E477G	ENSP00000280190:E477G	E	+	2	0	WDR17	177295755	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.899000	0.87370	2.138000	0.66242	0.533000	0.62120	GAG		0.249	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	5	52	0	0	0	0.000602	0	5	52				
PRPF19	27339	broad.mit.edu	37	11	60666069	60666069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:60666069C>A	ENST00000227524.4	-	13	1289	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGATGAGTCCGTCAGGGTGG	0.562																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(1084-1086)Gga>Tga		pre-mRNA processing factor 19							95.0	84.0	88.0					11																	60666069		2203	4299	6502	SO:0001587	stop_gained	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60666069C>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1084G>T	11.37:g.60666069C>A	ENSP00000227524:p.Gly362*						p.G362*	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			13	1289	-			362						Nonsense_Mutation	SNP	ENST00000227524.4	37	c.1084G>T	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853116	0.91355	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.6313	18.4838	0.90821	0.0:1.0:0.0:0.0	.	.	.	.	X	362;34	.	ENSP00000227524:G362X	G	-	1	0	PRPF19	60422645	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	7.296000	0.78790	2.683000	0.91414	0.655000	0.94253	GGA		0.562	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		9	56	1	0	0.000274275	0.004482	0.000335987	9	56				
ESF1	51575	broad.mit.edu	37	20	13763318	13763318	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:13763318C>T	ENST00000202816.1	-	2	576	c.469G>A	c.(469-471)Gat>Aat	p.D157N	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	157	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTTTGCTATCCTTCTTCGGA	0.279																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(469-471)Gat>Aat		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							38.0	39.0	38.0					20																	13763318		2196	4288	6484	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763318C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.469G>A	20.37:g.13763318C>T	ENSP00000202816:p.Asp157Asn						p.D157N	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	576	-			157			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.469G>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	4.731	0.135985	0.09032	.	.	ENSG00000089048	ENST00000202816	T	0.22743	1.94	4.96	-0.326	0.12698	.	1.210830	0.05615	N	0.578808	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36601	-0.9741	10	0.14656	T	0.56	.	9.4105	0.38489	0.0:0.5319:0.0:0.4681	.	157	Q9H501	ESF1_HUMAN	N	157	ENSP00000202816:D157N	ENSP00000202816:D157N	D	-	1	0	ESF1	13711318	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.338000	0.07842	-0.335000	0.08451	0.591000	0.81541	GAT		0.279	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		5	34	0	0	0	0.001168	0	5	34				
PKD2L1	9033	broad.mit.edu	37	10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:102048747G>A	ENST00000318222.3	-	15	2699	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	BLOC1S2_ENST00000370372.2_5'Flank|BLOC1S2_ENST00000361832.2_5'Flank|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|PKD2L1_ENST00000353274.3_Intron|BLOC1S2_ENST00000441611.1_5'Flank	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	773					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCCACCCTGGACTCCCCAG	0.602																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2317-2319)Cag>Tag		polycystic kidney disease 2-like 1							49.0	52.0	51.0					10																	102048747		2203	4300	6503	SO:0001587	stop_gained	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102048747G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2317C>T	10.37:g.102048747G>A	ENSP00000325296:p.Gln773*					PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|PKD2L1_ENST00000353274.3_Intron	p.Q773*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	15	2699	-		Colorectal(252;0.117)	773					O75972|Q5W039|Q9UP35|Q9UPA2	Nonsense_Mutation	SNP	ENST00000318222.3	37	c.2317C>T	CCDS7492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.142496|8.142496	0.98675|0.98675	.|.	.|.	ENSG00000107593|ENSG00000107593	ENST00000339977|ENST00000338519;ENST00000318222	.|.	.|.	.|.	4.28|4.28	1.33|1.33	0.21861|0.21861	.|.	.|1.626820	.|0.03478	.|N	.|0.214668	T|.	0.28200|.	0.0696|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22591|.	-1.0212|.	5|.	0.87932|0.41790	D|T	0|0.15	.|.	2.9142|2.9142	0.05746|0.05746	0.0996:0.18:0.5344:0.186|0.0996:0.18:0.5344:0.186	.|.	.|.	.|.	.|.	L|X	770|698;773	.|.	ENSP00000343736:P770L|ENSP00000325296:Q773X	P|Q	-|-	2|1	0|0	PKD2L1|PKD2L1	102038737|102038737	0.006000|0.006000	0.16342|0.16342	0.009000|0.009000	0.14445|0.14445	0.885000|0.885000	0.51271|0.51271	0.249000|0.249000	0.18216|0.18216	0.311000|0.311000	0.23014|0.23014	0.484000|0.484000	0.47621|0.47621	CCA|CAG		0.602	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		15	90	0	0	0	0.007413	0	15	90				
EDNRA	1909	broad.mit.edu	37	4	148407185	148407185	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:148407185C>T	ENST00000324300.5	+	2	867	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCCCAACGCGCTGATAGCCAG	0.418																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(352-354)Ctg>Ttg		endothelin receptor type A	Bosentan(DB00559)						115.0	107.0	110.0					4																	148407185		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148407185C>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.352C>T	4.37:g.148407185C>T						EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L	p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	867	+	all_hematologic(180;0.151)		118					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	c.352C>T	CCDS3769.1																																																																																				0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			15	86	0	0	0	0.002450	0	15	86				
OR4P4	81300	broad.mit.edu	37	11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	rs143338269	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:55406192G>A	ENST00000314612.2	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403													g|||	5	0.000998403	0.0038	0.0	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0					ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily P, member 4		G	HIS/ARG	10,4348		1,8,2170	92.0	80.0	84.0		359	3.5	1.0	11	dbSNP_134	84	0,8032		0,0,4016	yes	missense	OR4P4	NM_001004124.1	29	1,8,6186	AA,AG,GG		0.0,0.2295,0.0807	benign	120/313	55406192	10,12380	2179	4016	6195	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406192G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.359G>A	11.37:g.55406192G>A	ENSP00000324831:p.Arg120His						p.R120H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.359G>A	CCDS31504.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.25	1.582094	0.28180	0.002295	0.0	ENSG00000181927	ENST00000314612	T	0.77489	-1.1	5.37	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.78117	0.4233	M	0.84773	2.715	0.34429	D	0.698286	B	0.22480	0.07	B	0.19148	0.024	T	0.79581	-0.1744	10	0.59425	D	0.04	-3.8644	10.5555	0.45114	0.1571:0.0:0.8429:0.0	.	120	Q8NGL7	OR4P4_HUMAN	H	120	ENSP00000324831:R120H	ENSP00000324831:R120H	R	+	2	0	OR4P4	55162768	0.865000	0.29922	0.965000	0.40720	0.063000	0.16089	4.768000	0.62293	0.645000	0.30675	-0.154000	0.13518	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		16	41	0	0	0	0.004007	0	16	41				
ZNF675	171392	broad.mit.edu	37	19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(688-690)tGt>tAt		zinc finger protein 675							51.0	53.0	52.0					19																	23837046		2201	4296	6497	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837046C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.689G>A	19.37:g.23837046C>T	ENSP00000352836:p.Cys230Tyr					ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	p.C230Y	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	857	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	230					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.689G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.66	2.003977	0.35320	.	.	ENSG00000197372	ENST00000359788	T	0.38560	1.13	0.916	0.916	0.19373	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57548	0.2061	M	0.88570	2.965	0.38238	D	0.941234	P	0.46912	0.886	P	0.52823	0.71	T	0.64084	-0.6490	9	0.66056	D	0.02	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	230	Q8TD23	ZN675_HUMAN	Y	230	ENSP00000352836:C230Y	ENSP00000352836:C230Y	C	-	2	0	ZNF675	23628886	0.985000	0.35326	0.280000	0.24747	0.278000	0.26855	4.786000	0.62425	0.300000	0.22699	0.305000	0.20034	TGT		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		12	37	0	0	0	0.001855	0	12	37				
TRIO	7204	broad.mit.edu	37	5	14504503	14504503	+	Splice_Site	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:14504503G>A	ENST00000344204.4	+	55	8437	c.8413G>A	c.(8413-8415)Ggc>Agc	p.G2805S	TRIO_ENST00000537187.1_Splice_Site_p.G2629S|TRIO_ENST00000344135.5_Splice_Site_p.G304S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTTTACAGGGGCAGATTCTC	0.502																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.e55-1		trio Rho guanine nucleotide exchange factor							65.0	70.0	68.0					5																	14504503		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14504503G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8412-1G>A	5.37:g.14504503G>A						TRIO_ENST00000537187.1_Splice_Site_p.G2629_splice|TRIO_ENST00000344135.5_Splice_Site_p.G304_splice	p.G2805_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			55	8437	+	Lung NSC(4;0.000742)		2805			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	ENST00000344204.4	37	c.8411_splice	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092582	0.94149	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	D;D;D	0.90676	-2.71;-2.71;-2.71	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97117	0.9058	H	0.96142	3.775	0.46222	D	0.998932	D	0.89917	1.0	D	0.97110	1.0	D	0.98225	1.0480	10	0.87932	D	0	.	19.1195	0.93357	0.0:0.0:1.0:0.0	.	2805	O75962	TRIO_HUMAN	S	2805;2629;304	ENSP00000339299:G2805S;ENSP00000446348:G2629S;ENSP00000339291:G304S	ENSP00000339291:G304S	G	+	1	0	TRIO	14557503	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.441000	0.97557	2.515000	0.84797	0.491000	0.48974	GGC		0.502	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Missense_Mutation	6	85	0	0	0	0.001984	0	6	85				
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T	rs200047587	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGCACATGCCTGACCAGAC	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701304C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701304C>T								NR_003264.2						0	1520	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			10	74	0	0	0	0.013537	0	10	74				
DNAH3	55567	broad.mit.edu	37	16	21109952	21109952	+	Silent	SNP	C	C	T	rs376343061		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:21109952C>T	ENST00000261383.3	-	17	2504	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	DNAH3_ENST00000415178.1_Silent_p.A835A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	835	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2503-2505)gcG>gcA		dynein, axonemal, heavy chain 3		C		0,4402		0,0,2201	146.0	133.0	137.0		2505	-11.4	0.2	16		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		835/4117	21109952	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21109952C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2505G>A	16.37:g.21109952C>T						DNAH3_ENST00000415178.1_Silent_p.A835A	p.A835A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	17	2504	-			835			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.2505G>A	CCDS10594.1																																																																																				0.403	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	119	0	0	0	0.003080	0	7	119				
TTC13	79573	broad.mit.edu	37	1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:231069565C>A	ENST00000366661.4	-	9	950	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	315										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAATAAAGTCAACTTTCTGC	0.353																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(943-945)Gac>Tac		tetratricopeptide repeat domain 13							71.0	75.0	73.0					1																	231069565		2203	4299	6502	SO:0001583	missense	79573						binding	g.chr1:231069565C>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.943G>T	1.37:g.231069565C>A	ENSP00000355621:p.Asp315Tyr					TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	p.D315Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	950	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	315					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.943G>T	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528312|4.528312	0.85706|0.85706	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259|ENST00000522821	T;T;T|.	0.62105|.	1.02;0.05;0.05|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57755|0.57755	0.2075|0.2075	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.56287|.	0.922;0.968;0.919;0.975|.	P;P;P;P|.	0.57620|.	0.736;0.824;0.507;0.793|.	T|T	0.53258|0.53258	-0.8464|-0.8464	10|5	0.87932|.	D|.	0|.	-1.9201|-1.9201	13.0036|13.0036	0.58690|0.58690	0.0:0.9263:0.0:0.0737|0.0:0.9263:0.0:0.0737	.|.	240;262;262;315|.	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0|.	.;.;.;TTC13_HUMAN|.	Y|F	315;262;262|174	ENSP00000355621:D315Y;ENSP00000355622:D262Y;ENSP00000416631:D262Y|.	ENSP00000355621:D315Y|.	D|L	-|-	1|3	0|2	TTC13|TTC13	229136188|229136188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.727000|5.727000	0.68523|0.68523	2.657000|2.657000	0.90304|0.90304	0.563000|0.563000	0.77884|0.77884	GAC|TTG		0.353	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		9	98	1	0	0.00829132	0.008291	0.0096732	9	98				
CCDC129	223075	broad.mit.edu	37	7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:31617858A>G	ENST00000407970.3	+	8	1018	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	CCDC129_ENST00000409210.1_Missense_Mutation_p.Y235C|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	327										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGCTACCTTATCCTCCTCAT	0.512																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(703-705)tAt>tGt		coiled-coil domain containing 129							81.0	80.0	80.0					7																	31617858		2060	4197	6257	SO:0001583	missense	223075							g.chr7:31617858A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.980A>G	7.37:g.31617858A>G	ENSP00000384416:p.Tyr327Cys					CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C	p.Y235C			Q6ZRS4	CC129_HUMAN			6	888	+			327					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.704A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.528	1.109983	0.20714	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.16597	2.6;2.59;2.33	5.08	-1.37	0.09056	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	P;P;P	0.48230	0.907;0.846;0.846	P;P;P	0.46452	0.517;0.517;0.517	T	0.29427	-1.0012	8	.	.	.	-3.2264	6.3968	0.21616	0.3229:0.2837:0.3934:0.0	.	353;337;327	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	C	327;353;337;235	ENSP00000384416:Y327C;ENSP00000395835:Y353C;ENSP00000387214:Y235C	.	Y	+	2	0	CCDC129	31584383	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	0.419000	0.21247	-0.301000	0.08882	0.533000	0.62120	TAT		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		9	75	0	0	0	0.006214	0	9	75				
NUP50	10762	broad.mit.edu	37	22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G	rs564086226		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr22:45574602A>G	ENST00000347635.4	+	5	1290	c.824A>G	c.(823-825)aAg>aGg	p.K275R	NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	275	5 X 2 AA repeats of F-G.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AATTTCGGCAAGAAAGTTGAT	0.438													A|||	1	0.000199681	0.0	0.0	5008	,	,		21736	0.001		0.0	False		,,,				2504	0.0					ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(823-825)aAg>aGg		nucleoporin 50kDa							34.0	30.0	31.0					22																	45574602		2203	4297	6500	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574602A>G	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.824A>G	22.37:g.45574602A>G	ENSP00000345895:p.Lys275Arg					NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R	p.K275R	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	1290	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	275			5 X 2 AA repeats of F-G.|Ser-rich.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.824A>G	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676245	0.47886	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	.	.	.	5.46	4.41	0.53225	Nuclear pore complex, NUP2/50/61 (1);	0.162974	0.53938	D	0.000051	T	0.55800	0.1943	L	0.58669	1.825	0.42659	D	0.993479	B;B	0.19445	0.022;0.036	B;B	0.20577	0.018;0.03	T	0.52866	-0.8518	9	0.22706	T	0.39	-33.1723	11.9419	0.52905	0.9289:0.0:0.0711:0.0	.	25;275	B4E2D3;Q9UKX7	.;NUP50_HUMAN	R	275;247;25;247	.	ENSP00000345895:K275R	K	+	2	0	NUP50	43953266	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.515000	0.73751	2.191000	0.70037	0.533000	0.62120	AAG		0.438	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			3	20	0	0	0	0.001984	0	3	20				
CHD7	55636	broad.mit.edu	37	8	61736614	61736614	+	Intron	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:61736614G>C	ENST00000423902.2	+	13	3857				CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Nonstop_Mutation_p.*1139Y	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7						adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACCTGAATAGAATTGTTGCT	0.423																																						ENST00000525508.1																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3415-3417)taG>taC		chromodomain helicase DNA binding protein 7							70.0	69.0	70.0					8																	61736614		1984	4193	6177	SO:0001627	intron_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61736614G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3378+39G>C	8.37:g.61736614G>C						CHD7_ENST00000423902.2_Intron|CHD7_ENST00000524602.1_Intron	p.*1139Y			Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3417	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	0			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonstop_Mutation	SNP	ENST00000423902.2	37	c.3417G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439238	0.12104	.	.	ENSG00000171316	ENST00000525508	.	.	.	4.56	-0.415	0.12355	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9015	0.01275	0.37:0.1548:0.3161:0.159	.	.	.	.	Y	1139	.	.	X	+	3	2	CHD7	61899168	0.019000	0.18553	0.000000	0.03702	0.203000	0.24098	0.452000	0.21795	0.007000	0.14760	0.650000	0.86243	TAG		0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	81	0	0	0	0.001168	0	6	81				
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		8	582						8	582	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000522844.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			2	4						2	4	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:72159821delT	ENST00000435769.2	-	0	1494				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCCTTAGTAATTTTTTTTTTT	0.388																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							44.0	37.0	39.0					7																	72159821		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72159821delT	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159821delT										Q6NUM6	TYW1B_HUMAN			0	984	-								A6NG09|B4DFY2|Q3KQX2	RNA	DEL	ENST00000435769.2	37																																																																																						0.388	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		8	61						8	61	---	---	---	---
