#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
IDS	3423	broad.mit.edu	37	X	148579704	148579704	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000422081.2_Silent_p.T3T|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000370441.4_Silent_p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTGGCTGACGTTTTCATCT	0.532																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(640-642)acG>acT		iduronate 2-sulfatase							160.0	136.0	144.0					X																	148579704		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148579704C>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.642G>T	X.37:g.148579704C>A						IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000370441.4_Silent_p.T214T	p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			5	851	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		214					D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.642G>T	CCDS14685.1																																																																																				0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			23	647	1	0	4.16121e-05	1	4.4034e-05	23	647				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			0							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	75	0	0	0	1	0	5	75				
APOL5	80831	broad.mit.edu	37	22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGGAGACAGGCCCCGGGAAG	0.612																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1279-1281)Gcc>Acc		apolipoprotein L, 5							68.0	62.0	64.0					22																	36124922		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124922G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1279G>A	22.37:g.36124922G>A	ENSP00000249044:p.Ala427Thr						p.A427T	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			4	1279	+			427					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.1279G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555711	0.65425	.	.	ENSG00000128313	ENST00000249044	T	0.05139	3.49	2.28	1.18	0.20946	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.42155	-0.9468	9	0.87932	D	0	.	2.8292	0.05495	0.5743:0.0:0.4257:0.0	.	427	Q9BWW9	APOL5_HUMAN	T	427	ENSP00000249044:A427T	ENSP00000249044:A427T	A	+	1	0	APOL5	34454868	0.002000	0.14202	0.057000	0.19452	0.873000	0.50193	1.096000	0.30976	0.380000	0.24823	0.430000	0.28490	GCC		0.612	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		7	290	0	0	0	1	0	7	290				
TIMM50	92609	broad.mit.edu	37	19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A	rs202166024	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000607714.1	+	11	1068	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000314349.4_Missense_Mutation_p.R452H			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		16295	0.0		0.002	False		,,,				2504	0.0					ENST00000314349.4																			1	Substitution - Missense(1)	p.R452H(1)	large_intestine(1)	NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(1354-1356)cGc>cAc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							52.0	46.0	48.0					19																	39980444		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39980444G>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.1046G>A	19.37:g.39980444G>A	ENSP00000475531:p.Arg349His					TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H	p.R452H	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1488	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		349					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.1355G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.56	3.650107	0.67472	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.47716	1.5	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	P;D	0.63703	0.512;0.917	T	0.65138	-0.6241	8	.	.	.	-17.7449	13.3117	0.60384	0.0775:0.0:0.9225:0.0	.	349;452	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	H	452;236	.	.	R	+	2	0	TIMM50	44672284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.227000	0.72282	1.360000	0.45960	0.655000	0.94253	CGC		0.617	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		3	43	0	0	0	1	0	3	43				
KIAA1524	57650	broad.mit.edu	37	3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	868					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAGGACTCTTTCTCTTCC	0.418																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2602-2604)Gag>Cag		KIAA1524							100.0	91.0	94.0					3																	108270112		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108270112C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2602G>C	3.37:g.108270112C>G	ENSP00000295746:p.Glu868Gln					KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	p.E868Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			21	2678	-			868					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2602G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013192	0.93346	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.55052	0.54;0.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74910	-0.3503	10	0.66056	D	0.02	-12.9123	19.4773	0.94994	0.0:1.0:0.0:0.0	.	868	Q8TCG1	CIP2A_HUMAN	Q	709;868	ENSP00000419487:E709Q;ENSP00000295746:E868Q	ENSP00000295746:E868Q	E	-	1	0	KIAA1524	109752802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.308000	0.65768	2.593000	0.87608	0.655000	0.94253	GAG		0.418	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		45	143	0	0	0	1	0	45	143				
FAT4	79633	broad.mit.edu	37	4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3057	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTTTTTTATCACAGTCACTG	0.398																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9169-9171)atC>atG		FAT atypical cadherin 4							81.0	81.0	81.0					4																	126371342		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371342C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9171C>G	4.37:g.126371342C>G	ENSP00000377862:p.Ile3057Met					FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	p.I3057M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9184	+			3057			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9171C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429562	0.04701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;1.95	5.53	3.77	0.43336	Cadherin (4);Cadherin-like (1);	0.250386	0.20094	U	0.099377	T	0.36082	0.0954	L	0.34521	1.04	0.31081	N	0.711959	B;B;B	0.20459	0.006;0.045;0.016	B;B;B	0.23716	0.005;0.048;0.019	T	0.41251	-0.9519	10	0.72032	D	0.01	.	1.0954	0.01672	0.1406:0.3872:0.2043:0.2679	.	1355;3057;3057	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3057;1355	ENSP00000377862:I3057M;ENSP00000335169:I1355M	ENSP00000335169:I1355M	I	+	3	3	FAT4	126590792	0.985000	0.35326	0.990000	0.47175	0.286000	0.27126	0.286000	0.18902	1.340000	0.45581	0.655000	0.94253	ATC		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	397	0	0	0	1	0	8	397				
MROH9	80133	broad.mit.edu	37	1	170967515	170967515	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967515G>T	ENST00000367758.3	+	15	1795	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	566																	TCTGAATGTTGGTTCTTACCA	0.403																																						ENST00000367758.3																			0											c.(1696-1698)Ggt>Tgt		maestro heat-like repeat family member 9							132.0	113.0	119.0					1																	170967515		1836	4093	5929	SO:0001583	missense	80133							g.chr1:170967515G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1696G>T	1.37:g.170967515G>T	ENSP00000356732:p.Gly566Cys					MROH9_ENST00000367759.4_Intron	p.G566C	NM_025063.2	NP_079339.2					15	1795	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1696G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455111	0.26161	.	.	ENSG00000117501	ENST00000367758	T	0.19394	2.15	3.5	0.187	0.15109	.	0.828757	0.10249	N	0.697367	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.42699	-0.9436	10	0.87932	D	0	0.8303	4.3614	0.11205	0.13:0.0:0.318:0.552	.	566	Q5TGP6	CA129_HUMAN	C	566	ENSP00000356732:G566C	ENSP00000356732:G566C	G	+	1	0	C1orf129	169234139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.564000	0.05936	0.015000	0.14971	0.446000	0.29264	GGT		0.403	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		45	281	1	0	3.43241e-23	1	3.87843e-23	45	281				
OR9G1	390174	broad.mit.edu	37	11	56468064	56468064	+	Silent	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCTGTCGTTTCTGGATCTCT	0.463																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(199-201)ttT>ttC		olfactory receptor, family 9, subfamily G, member 1							141.0	124.0	130.0					11																	56468064		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468064T>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.201T>C	11.37:g.56468064T>C							p.F67F	NM_001005213.1	NP_001005213.1					1	201	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.201T>C	CCDS31536.1																																																																																				0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		28	303	0	0	0	1	0	28	303				
HOMER2	9455	broad.mit.edu	37	15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	151					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CGTGAGAGGCCTTTTCATCGT	0.498																																						ENST00000304231.8																			0				cervix(1)|endometrium(2)|lung(6)	9						c.(451-453)aaG>aaT		homer homolog 2 (Drosophila)							159.0	163.0	162.0					15																	83527855		2007	4158	6165	SO:0001583	missense	0				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83527855C>A	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.453G>T	15.37:g.83527855C>A	ENSP00000305632:p.Lys151Asn					HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N	p.K151N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN			5	645	-			151					O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	c.453G>T	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741498	0.69304	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.79454	2.15;-1.27;2.42;2.43	5.39	3.46	0.39613	.	0.094216	0.64402	D	0.000001	T	0.77883	0.4197	L	0.60455	1.87	0.39080	D	0.960886	B;D;D;P	0.57899	0.338;0.981;0.96;0.893	B;P;P;P	0.53360	0.187;0.724;0.711;0.486	T	0.75777	-0.3198	10	0.25106	T	0.35	.	9.2512	0.37555	0.0:0.7746:0.0:0.2254	.	140;151;140;151	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	N	151;140;151;140	ENSP00000305632:K151N;ENSP00000407634:K140N;ENSP00000394293:K151N;ENSP00000382119:K140N	ENSP00000305632:K151N	K	-	3	2	HOMER2	81324909	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.921000	0.40035	1.478000	0.48253	0.651000	0.88453	AAG		0.498	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			134	713	1	0	3.45176e-74	1	4.0609e-74	134	713				
LRRK1	79705	broad.mit.edu	37	15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A	rs368091026		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000388948.3	+	6	1003	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	LRRK1_ENST00000284395.5_Missense_Mutation_p.R212Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTGCTTCGGCATGGGGCC	0.483																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(634-636)cGg>cAg		leucine-rich repeat kinase 1		G	GLN/ARG	1,3995		0,1,1997	157.0	153.0	154.0		644	4.4	0.2	15		154	0,8382		0,0,4191	no	missense	LRRK1	NM_024652.3	43	0,1,6188	AA,AG,GG		0.0,0.025,0.0081	benign	215/2016	101529485	1,12377	1998	4191	6189	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101529485G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.644G>A	15.37:g.101529485G>A	ENSP00000373600:p.Arg215Gln					LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q|LRRK1_ENST00000388948.3_Missense_Mutation_p.R215Q	p.R212Q			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		7	1035	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		215						Missense_Mutation	SNP	ENST00000388948.3	37	c.635G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200254	0.38905	2.5E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.70164	-0.46;-0.06;-0.46	5.27	4.36	0.52297	Ankyrin repeat-containing domain (3);	0.357809	0.27245	N	0.020253	T	0.43590	0.1254	N	0.11560	0.145	0.27090	N	0.962887	B;B	0.23891	0.0;0.093	B;B	0.17098	0.001;0.017	T	0.27468	-1.0073	10	0.26408	T	0.33	.	9.4521	0.38731	0.1609:0.0:0.8391:0.0	.	215;215	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	Q	215;212;215	ENSP00000373600:R215Q;ENSP00000284395:R212Q;ENSP00000433268:R215Q	ENSP00000284395:R212Q	R	+	2	0	LRRK1	99347008	0.896000	0.30565	0.239000	0.24122	0.988000	0.76386	3.161000	0.50747	1.362000	0.46000	0.650000	0.86243	CGG		0.483	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		98	554	0	0	0	1	0	98	554				
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C506S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333																																						ENST00000506729.1																			1	Substitution - Missense(1)	p.C506S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1516-1518)tGt>tAt		solute carrier organic anion transporter family, member 6A1							45.0	46.0	46.0					5																	101748803		2203	4293	6496	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748803C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1517G>A	5.37:g.101748803C>T	ENSP00000421339:p.Cys506Tyr					SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y	p.C506Y			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1688	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	506			Kazal-like.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1517G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077737	0.55753	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.86264	0.5891	H	0.97440	4.005	0.50313	D	0.999866	P;D;D	0.89917	0.933;1.0;0.957	P;D;P	0.87578	0.479;0.998;0.688	D	0.90071	0.4163	10	0.56958	D	0.05	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	444;253;506	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	506;506;444;253;253	ENSP00000421339:C506Y;ENSP00000369135:C506Y;ENSP00000373671:C444Y;ENSP00000421990:C253Y;ENSP00000369138:C253Y	ENSP00000369135:C506Y	C	-	2	0	SLCO6A1	101776702	0.999000	0.42202	0.564000	0.28396	0.046000	0.14306	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	TGT		0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		32	159	0	0	0	1	0	32	159				
PCDH10	57575	broad.mit.edu	37	4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGCTACTTGTACGCCCTGCG	0.597																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1576-1578)Tac>Gac		protocadherin 10							64.0	69.0	67.0					4																	134072871		2200	4293	6493	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072871T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1576T>G	4.37:g.134072871T>G	ENSP00000264360:p.Tyr526Asp						p.Y526D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2402	+			526			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1576T>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427385	0.62733	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001442	T	0.68026	0.2956	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.73020	-0.4114	10	0.87932	D	0	.	12.9618	0.58462	0.0:0.0:0.0:1.0	.	526;526	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	526	ENSP00000264360:Y526D	ENSP00000264360:Y526D	Y	+	1	0	PCDH10	134292321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.836000	0.86788	1.889000	0.54706	0.533000	0.62120	TAC		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		79	407	0	0	0	1	0	79	407				
DAB2IP	153090	broad.mit.edu	37	9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGCCTGAGGCAGCAGTCCT	0.652																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2902-2904)agG>agT		DAB2 interacting protein							13.0	16.0	15.0					9																	124535711		2198	4297	6495	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535711G>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2904G>T	9.37:g.124535711G>T	ENSP00000386183:p.Arg968Ser					DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S	p.R968S			Q5VWQ8	DAB2P_HUMAN			12	3086	+			968					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2904G>T		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397162	0.25205	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.7	3.73	0.42828	.	0.237534	0.39759	N	0.001274	T	0.17534	0.0421	L	0.53561	1.675	0.46954	D	0.999269	B;P	0.35033	0.271;0.481	B;B	0.42738	0.079;0.396	T	0.03852	-1.0998	10	0.13108	T	0.6	.	13.3473	0.60582	0.0:0.1591:0.8409:0.0	.	968;940	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	S	940;968;877;844	ENSP00000259371:R940S;ENSP00000386183:R968S;ENSP00000362887:R877S;ENSP00000310827:R844S	ENSP00000259371:R940S	R	+	3	2	DAB2IP	123575532	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.058000	0.30504	2.169000	0.68431	0.313000	0.20887	AGG		0.652	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		10	60	1	0	0.00010058	1	0.000104771	10	60				
CAPN12	147968	broad.mit.edu	37	19	39221822	39221822	+	Missense_Mutation	SNP	G	G	A	rs143345899	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39221822G>A	ENST00000328867.4	-	19	2307	c.1999C>T	c.(1999-2001)Cgc>Tgc	p.R667C	ACTN4_ENST00000252699.2_3'UTR|CAPN12_ENST00000601953.1_Missense_Mutation_p.R518C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	667	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCCGGTAGCGGCTGGTGAGG	0.627													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		15396	0.001		0.001	False		,,,				2504	0.0					ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1999-2001)Cgc>Tgc		calpain 12		G	CYS/ARG	0,4404		0,0,2202	63.0	46.0	52.0		1999	2.6	1.0	19	dbSNP_134	52	20,8580	14.6+/-50.1	0,20,4280	yes	missense	CAPN12	NM_144691.3	180	0,20,6482	AA,AG,GG		0.2326,0.0,0.1538	probably-damaging	667/720	39221822	20,12984	2202	4300	6502	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39221822G>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1999C>T	19.37:g.39221822G>A	ENSP00000331636:p.Arg667Cys					ACTN4_ENST00000252699.2_3'UTR|CAPN12_ENST00000601953.1_Missense_Mutation_p.R518C	p.R667C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		19	2307	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		667			Domain IV.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1999C>T	CCDS12519.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.64	3.865729	0.71949	0.0	0.002326	ENSG00000182472	ENST00000328867	T	0.32023	1.47	4.74	2.59	0.31030	EF-hand-like domain (1);	0.063724	0.64402	D	0.000018	T	0.56337	0.1978	M	0.89534	3.04	0.49130	D	0.999751	D	0.89917	1.0	D	0.70935	0.971	T	0.58831	-0.7567	10	0.87932	D	0	.	7.6395	0.28286	0.1953:0.0:0.8047:0.0	.	667	Q6ZSI9	CAN12_HUMAN	C	667	ENSP00000331636:R667C	ENSP00000331636:R667C	R	-	1	0	CAPN12	43913662	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.567000	0.45956	0.617000	0.30160	0.491000	0.48974	CGC		0.627	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			4	162	0	0	0	1	0	4	162				
GRSF1	2926	broad.mit.edu	37	4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000254799.6	-	8	1435	c.1318A>G	c.(1318-1320)Act>Gct	p.T440A	GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	440	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCTTCTCCAGTGGCCTTCCCA	0.488																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1318-1320)Act>Gct		G-rich RNA sequence binding factor 1							68.0	67.0	67.0					4																	71691088		1989	4182	6171	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691088T>C	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1318A>G	4.37:g.71691088T>C	ENSP00000254799:p.Thr440Ala					GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A	p.T440A	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1435	-		all_hematologic(202;0.21)	440			RRM 3.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1318A>G	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665232	0.88251	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	6.07	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.044997	0.85682	D	0.000000	T	0.26159	0.0638	M	0.72576	2.205	0.53005	D	0.999964	D;P	0.60160	0.987;0.581	D;P	0.70016	0.967;0.702	T	0.00660	-1.1622	10	0.62326	D	0.03	-9.2706	12.0784	0.53657	0.0:0.0668:0.0:0.9332	.	353;440	B7Z5F9;Q12849	.;GRSF1_HUMAN	A	440;278;372;413;278;322	ENSP00000254799:T440A;ENSP00000389219:T278A;ENSP00000427354:T413A;ENSP00000425430:T278A;ENSP00000443380:T322A	ENSP00000254799:T440A	T	-	1	0	GRSF1	71909952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.967000	0.70403	1.114000	0.41781	0.533000	0.62120	ACT		0.488	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		23	108	0	0	0	1	0	23	108				
EGR1	1958	broad.mit.edu	37	5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	539					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCAGGACAATTGAAAT	0.502																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1615-1617)Aca>Gca		early growth response 1							59.0	64.0	62.0					5																	137803753		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803753A>G	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1615A>G	5.37:g.137803753A>G	ENSP00000239938:p.Thr539Ala						p.T539A	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1887	+			539						Missense_Mutation	SNP	ENST00000239938.4	37	c.1615A>G	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461456	0.43736	.	.	ENSG00000120738	ENST00000411801;ENST00000239938	T	0.10960	2.82	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58101	1.795	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	T	0.01375	-1.1371	10	0.87932	D	0	-6.6955	12.7025	0.57041	1.0:0.0:0.0:0.0	.	539	P18146	EGR1_HUMAN	A	196;539	ENSP00000239938:T539A	ENSP00000239938:T539A	T	+	1	0	EGR1	137831652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.536000	0.90627	1.781000	0.52344	0.533000	0.62120	ACA		0.502	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		80	508	0	0	0	1	0	80	508				
CSNK2A3	283106	broad.mit.edu	37	11	11373917	11373917	+	Silent	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:11373917C>G	ENST00000528848.2	-	1	987	c.750G>C	c.(748-750)ggG>ggC	p.G250G	RP11-567I13.1_ENST00000526867.1_RNA|GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										AATCTTCTGTCCCCAGAAACT	0.418																																						ENST00000528848.2																			0											c.(748-750)ggG>ggC		casein kinase 2, alpha 3 polypeptide																																				SO:0001819	synonymous_variant	283106							g.chr11:11373917C>G	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.750G>C	11.37:g.11373917C>G						GALNT18_ENST00000227756.4_Intron	p.G250G	NM_001256686.1	NP_001243615.1					1	987	-									Silent	SNP	ENST00000528848.2	37	c.750G>C	CCDS59224.1																																																																																				0.418	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		44	524	0	0	0	1	0	44	524				
KIAA1217	56243	broad.mit.edu	37	10	24762714	24762714	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000376454.3	+	6	1434	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S	KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000396446.1_Silent_p.S186S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	468					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACTGGGCTCCAAAACACCCC	0.507																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(556-558)tcC>tcA		KIAA1217							86.0	72.0	77.0					10																	24762714		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762714C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1404C>A	10.37:g.24762714C>A						KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S	p.S186S			Q5T5P2	SKT_HUMAN			2	818	+			468					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.558C>A	CCDS31165.1																																																																																				0.507	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		78	348	1	0	3.1711e-36	1	3.62411e-36	78	348				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			26	108	1	0	2.91434e-09	1	3.15063e-09	26	108				
MYOZ1	58529	broad.mit.edu	37	10	75399731	75399731	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAGCTTGCTGGATTTCCTCT	0.517																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(43-45)tcC>tcT		myozenin 1							171.0	147.0	155.0					10																	75399731		2203	4300	6503	SO:0001819	synonymous_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75399731G>A	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.45C>T	10.37:g.75399731G>A							p.S15S	NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN			2	409	-	Prostate(51;0.0112)		15						Silent	SNP	ENST00000359322.4	37	c.45C>T	CCDS7330.1																																																																																				0.517	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			74	339	0	0	0	1	0	74	339				
FLG	2312	broad.mit.edu	37	1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	789	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCGAGACCTT	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2365-2367)Cgt>Tgt		filaggrin							305.0	293.0	297.0					1																	152284997		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284997G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2365C>T	1.37:g.152284997G>A	ENSP00000357789:p.Arg789Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R789C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2400	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		789			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2365C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.373	0.254012	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.52	-0.503	0.12000	.	.	.	.	.	T	0.00906	0.0030	M	0.77820	2.39	0.09310	N	1	D	0.64830	0.994	B	0.40038	0.317	T	0.43245	-0.9403	9	0.62326	D	0.03	.	2.9569	0.05880	0.1583:0.0:0.4366:0.4051	.	789	P20930	FILA_HUMAN	C	789	ENSP00000357789:R789C	ENSP00000357789:R789C	R	-	1	0	FLG	150551621	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.133000	0.10451	-0.248000	0.09583	0.479000	0.44913	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		40	1782	0	0	0	1	0	40	1782				
DMD	1756	broad.mit.edu	37	X	31198512	31198512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3354	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACCATGGGATAGTGCATTTT	0.418																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10060-10062)tAt>tTt		dystrophin							128.0	109.0	115.0					X																	31198512		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31198512T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10061A>T	X.37:g.31198512T>A	ENSP00000354923:p.Tyr3354Phe					DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F	p.Y3354F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			69	10267	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3354			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10061A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417414	0.83449	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.03	3.8	0.43715	Zinc finger, ZZ-type (1);	0.000000	0.32372	U	0.006187	D	0.92590	0.7646	M	0.83953	2.67	0.58432	D	0.999999	B;D;D;B;D;D;D;D;D;D;D;D;D;D;P;D	0.89917	0.002;0.957;0.997;0.06;0.997;0.997;0.995;0.996;0.996;0.999;0.999;1.0;0.974;0.985;0.743;0.997	B;P;D;B;D;D;D;D;D;D;D;D;D;P;P;D	0.80764	0.003;0.754;0.97;0.018;0.97;0.97;0.962;0.917;0.917;0.986;0.994;0.986;0.969;0.871;0.493;0.97	D	0.92983	0.6408	10	0.87932	D	0	.	10.1983	0.43067	0.1502:0.0:0.0:0.8498	.	286;3346;3354;3350;2013;2010;894;894;894;894;894;3231;286;286;286;286	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	F	3346;2013;2010;286;1050;3350;3354;894;894;3354;3231;894;894;286;894;286;286;144	ENSP00000367997:Y286F;ENSP00000350765:Y1050F;ENSP00000367948:Y3350F;ENSP00000354923:Y3354F;ENSP00000352894:Y894F;ENSP00000340057:Y894F;ENSP00000367979:Y894F;ENSP00000444119:Y894F;ENSP00000367974:Y286F;ENSP00000417123:Y894F;ENSP00000354464:Y286F;ENSP00000367951:Y286F;ENSP00000367977:Y144F	ENSP00000340057:Y894F	Y	-	2	0	DMD	31108433	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.825000	0.86693	1.868000	0.54150	0.441000	0.28932	TAT		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	409	0	0	0	1	0	16	409				
PCDH11X	27328	broad.mit.edu	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(484-486)gCg>gTg		protocadherin 11 X-linked							36.0	37.0	37.0					X																	91090988		2200	4298	6498	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090988C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val					PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V	p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1330	+			162			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.485C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		67	422	0	0	0	1	0	67	422				
COL5A3	50509	broad.mit.edu	37	19	10081324	10081324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:10081324C>T	ENST00000264828.3	-	54	3995	c.3910G>A	c.(3910-3912)Ggc>Agc	p.G1304S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1304	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ccgggggcgccgggcTCCCCA	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3910-3912)Ggc>Agc		collagen, type V, alpha 3							8.0	9.0	8.0					19																	10081324		2154	4209	6363	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10081324C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3910G>A	19.37:g.10081324C>T	ENSP00000264828:p.Gly1304Ser						p.G1304S	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		54	3995	-			1304			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3910G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851005	0.32699	.	.	ENSG00000080573	ENST00000264828	D	0.99607	-6.27	3.28	3.28	0.37604	.	0.000000	0.64402	U	0.000001	D	0.99651	0.9871	H	0.94658	3.565	0.51482	D	0.999926	D	0.89917	1.0	D	0.85130	0.997	D	0.97697	1.0182	10	0.87932	D	0	.	10.3456	0.43903	0.0:1.0:0.0:0.0	.	1304	P25940	CO5A3_HUMAN	S	1304	ENSP00000264828:G1304S	ENSP00000264828:G1304S	G	-	1	0	COL5A3	9942324	0.354000	0.24912	0.334000	0.25495	0.015000	0.08874	2.226000	0.42963	2.126000	0.65437	0.486000	0.48141	GGC		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	26	0	0	0	1	0	5	26				
KCNA2	3737	broad.mit.edu	37	1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000485317.1	-	3	723	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	17					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CTGTGGGTGCCCAGGGAGGGC	0.597																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(49-51)gGg>gTg		potassium voltage-gated channel, shaker-related subfamily, member 2							97.0	101.0	100.0					1																	111147355		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147355C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.50G>T	1.37:g.111147355C>A	ENSP00000433109:p.Gly17Val					KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V	p.G17V			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	723	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	17					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.50G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638576	0.67130	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96334	-1.29;-3.98;-3.98;-3.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.56769	1.78	0.80722	D	1	B;P	0.45011	0.262;0.848	B;P	0.52823	0.101;0.71	D	0.94141	0.7397	10	0.17369	T	0.5	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	17;17	Q86XG6;P16389	.;KCNA2_HUMAN	V	17	ENSP00000358785:G17V;ENSP00000433109:G17V;ENSP00000415257:G17V;ENSP00000314520:G17V	ENSP00000314520:G17V	G	-	2	0	KCNA2	110948878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.713000	0.92767	0.655000	0.94253	GGG		0.597	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		149	764	1	0	2.2932e-79	1	2.71384e-79	149	764				
NPAT	4863	broad.mit.edu	37	11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T	rs576905510		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1245	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTAACATTTCTGTGGTAATC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19177	0.0		0.001	False		,,,				2504	0.0					ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3733-3735)Gaa>Aaa		nuclear protein, ataxia-telangiectasia locus							170.0	172.0	171.0					11																	108032080		1854	4102	5956	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032080C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3733G>A	11.37:g.108032080C>T	ENSP00000278612:p.Glu1245Lys						p.E1245K	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3838	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1245			Required for acceleration of G1 phase.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3733G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616831	0.66672	.	.	ENSG00000149308	ENST00000278612	T	0.07567	3.18	5.24	5.24	0.73138	.	0.300838	0.34580	N	0.003851	T	0.23289	0.0563	M	0.69823	2.125	0.58432	D	0.999999	D	0.55385	0.971	P	0.53401	0.725	T	0.00164	-1.1968	10	0.66056	D	0.02	-12.4987	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1245	Q14207	NPAT_HUMAN	K	1245	ENSP00000278612:E1245K	ENSP00000278612:E1245K	E	-	1	0	NPAT	107537290	1.000000	0.71417	0.909000	0.35828	0.109000	0.19521	6.781000	0.75068	2.890000	0.99128	0.650000	0.86243	GAA		0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		39	1394	0	0	0	1	0	39	1394				
FLNB	2317	broad.mit.edu	37	3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000295956.4	+	35	6021	c.5856T>A	c.(5854-5856)tgT>tgA	p.C1952*	FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1952	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGAGCCCTGTCTCCTGAAGA	0.602																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(5854-5856)tgT>tgA		filamin B, beta							41.0	36.0	38.0					3																	58134060		2203	4300	6503	SO:0001587	stop_gained	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58134060T>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5856T>A	3.37:g.58134060T>A	ENSP00000295956:p.Cys1952*					FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952*	p.C1952*			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	35	6021	+			1952			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	c.5856T>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	T	46	12.749215	0.99693	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	-0.893	0.10567	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3262	0.55011	0.0:0.4478:0.0:0.5522	.	.	.	.	X	1952;1983;1928;1941;1952;1952;1759;1772	.	ENSP00000295956:C1952X	C	+	3	2	FLNB	58109100	0.944000	0.32072	0.994000	0.49952	0.995000	0.86356	0.021000	0.13489	-0.232000	0.09811	0.533000	0.62120	TGT		0.602	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		11	122	0	0	0	1	0	11	122				
FLNA	2316	broad.mit.edu	37	X	153577233	153577233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000369850.3	-	48	8164	c.7928G>A	c.(7927-7929)cGc>cAc	p.R2643H	FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2643	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCACAACGCGGTAGGGGCT	0.687																																						ENST00000422373.1																			0				breast(6)	6						c.(7903-7905)cGc>cAc		filamin A, alpha							60.0	65.0	64.0					X																	153577233		2061	4161	6222	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577233C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7928G>A	X.37:g.153577233C>T	ENSP00000358866:p.Arg2643His					FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H	p.R2635H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			47	8152	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2643			Self-association site, tail.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7904G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570226	0.28003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.74	3.7	0.42460	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062457	0.64402	D	0.000011	T	0.61022	0.2314	N	0.03948	-0.315	0.35918	D	0.831602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.001;0.001;0.013;0.013	T	0.53809	-0.8386	10	0.17832	T	0.49	.	2.1844	0.03882	0.0:0.3694:0.3076:0.323	.	776;2635;2643;2643	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	H	2635;2311;2635;2643;776;2603	ENSP00000353467:R2635H;ENSP00000416926:R2635H;ENSP00000358866:R2643H;ENSP00000358872:R776H;ENSP00000358863:R2603H	ENSP00000358863:R2603H	R	-	2	0	FLNA	153230427	0.644000	0.27277	0.766000	0.31476	0.858000	0.48976	1.084000	0.30828	1.172000	0.42781	0.529000	0.55759	CGC		0.687	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			12	384	0	0	0	1	0	12	384				
PTGS1	5742	broad.mit.edu	37	9	125140773	125140773	+	Silent	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000373698.5_5'UTR	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	91					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCACTTCCTGCTCACTCACG	0.622																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(271-273)ctG>ctT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						87.0	90.0	89.0					9																	125140773		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140773G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.273G>T	9.37:g.125140773G>T						PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	p.L91L	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			4	278	+			91					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.273G>T	CCDS6842.1																																																																																				0.622	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			117	580	1	0	2.51308e-46	1	2.90529e-46	117	580				
ASB9	140462	broad.mit.edu	37	X	15266926	15266926	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000380488.4	-	6	973	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.R234C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	234					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TCCACAGGACGTTTGCCTTCA	0.557																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(700-702)Cgt>Tgt		ankyrin repeat and SOCS box containing 9							89.0	77.0	81.0					X																	15266926		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15266926G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.700C>T	X.37:g.15266926G>A	ENSP00000369855:p.Arg234Cys					ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C	p.R234C	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1183	-	Hepatocellular(33;0.183)		234					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.700C>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580533	0.28180	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.92	4.17	0.49024	Ankyrin repeat-containing domain (3);	0.273432	0.42420	N	0.000717	T	0.41328	0.1154	L	0.54965	1.715	0.49483	D	0.999798	B;B;B;B	0.29188	0.236;0.05;0.03;0.157	B;B;B;B	0.29598	0.104;0.019;0.012;0.026	T	0.29941	-0.9995	10	0.62326	D	0.03	-10.1573	7.8005	0.29172	0.1464:0.0:0.7222:0.1313	.	205;224;234;234	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	224;234;234;234	ENSP00000369850:R224C;ENSP00000369852:R234C;ENSP00000369855:R234C;ENSP00000438943:R234C	ENSP00000369850:R224C	R	-	1	0	ASB9	15176847	0.993000	0.37304	0.143000	0.22291	0.565000	0.35776	1.270000	0.33086	0.638000	0.30545	-0.208000	0.12717	CGT		0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			75	394	0	0	0	1	0	75	394				
DAAM1	23002	broad.mit.edu	37	14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S|DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	161	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTATCATGTATCCTCAACTTT	0.418																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(481-483)aTc>aGc		dishevelled associated activator of morphogenesis 1							147.0	141.0	143.0					14																	59789651		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789651T>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.482T>G	14.37:g.59789651T>G	ENSP00000378557:p.Ile161Ser					DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	505	+			161			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.482T>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954100	0.73902	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89050	-2.46;-2.46;-2.46	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	L	0.44542	1.39	0.80722	D	1	D;D	0.54207	0.957;0.965	P;P	0.55749	0.677;0.783	D	0.91609	0.5301	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	161;161	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	161	ENSP00000354162:I161S;ENSP00000247170:I161S;ENSP00000378557:I161S	ENSP00000247170:I161S	I	+	2	0	DAAM1	58859404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATC		0.418	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		99	503	0	0	0	1	0	99	503				
PTPN13	5783	broad.mit.edu	37	4	87684337	87684337	+	Silent	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000411767.2	+	24	4074	c.4011A>T	c.(4009-4011)ccA>ccT	p.P1337P	PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000436978.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1337					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAAACACCAAAACAGGCAT	0.363																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4009-4011)ccA>ccT		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							95.0	93.0	94.0					4																	87684337		1865	4115	5980	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87684337A>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4011A>T	4.37:g.87684337A>T						PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P	p.P1337P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	24	4491	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1337					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.4011A>T	CCDS47094.1																																																																																				0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			94	462	0	0	0	1	0	94	462				
ZFYVE9	9372	broad.mit.edu	37	1	52740258	52740258	+	Splice_Site	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000371591.1	+	7	2877		c.e7+2		ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000287727.3_Splice_Site	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9						endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAAAAGGAGGTAAGTGGACTA	0.398																																						ENST00000287727.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.e8+2		zinc finger, FYVE domain containing 9							122.0	109.0	113.0					1																	52740258		2203	4300	6503	SO:0001630	splice_region_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52740258T>C	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2746+2T>C	1.37:g.52740258T>C						ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000371591.1_Splice_Site		NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			8	2918	+								Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Splice_Site	SNP	ENST00000371591.1	37		CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598319	0.46318	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	5.27	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3915	0.55360	0.0:0.0:0.1407:0.8593	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE9	52512846	1.000000	0.71417	0.998000	0.56505	0.451000	0.32288	7.744000	0.85034	0.832000	0.34804	-0.313000	0.08912	.		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	Intron	83	400	0	0	0	1	0	83	400				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	153	0	0	0	1	0	6	153				
TERT	7015	broad.mit.edu	37	5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGGCAGTGCCGGGTTGGCTGC	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(3361-3363)cCg>cAg		telomerase reverse transcriptase							21.0	29.0	27.0					5																	1253880		2170	4259	6429	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1253880G>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3362C>A	5.37:g.1253880G>T	ENSP00000309572:p.Pro1121Gln					TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	p.P1121Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		16	3419	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1121			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.3362C>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	16.53	3.147750	0.57151	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.97870	-4.58;-4.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	10	0.66056	D	0.02	-17.5136	11.4366	0.50072	0.0:0.0:1.0:0.0	.	1058;1121	O14746-3;O14746	.;TERT_HUMAN	Q	1121;1058	ENSP00000309572:P1121Q;ENSP00000334346:P1058Q	ENSP00000309572:P1121Q	P	-	2	0	TERT	1306880	0.987000	0.35691	0.320000	0.25306	0.012000	0.07955	2.740000	0.47418	2.134000	0.65973	0.561000	0.74099	CCG		0.662	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			17	69	1	0	2.37509e-13	1	2.62441e-13	17	69				
FLNB	2317	broad.mit.edu	37	3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000295956.4	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1033					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTACACAGTGGAGGCCTCGCT	0.567																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3097-3099)Gag>Aag		filamin B, beta							100.0	106.0	104.0					3																	58107201		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58107201G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3097G>A	3.37:g.58107201G>A	ENSP00000295956:p.Glu1033Lys					FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K	p.E1033K			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	20	3262	+			1033					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3097G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855482	0.91355	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.87	5.87	0.94306	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.136651	0.64402	D	0.000004	T	0.49660	0.1570	L	0.35723	1.085	0.80722	D	1	P;P;B;B;P;P	0.48640	0.913;0.893;0.415;0.121;0.774;0.774	P;P;B;B;B;B	0.52217	0.693;0.493;0.299;0.246;0.345;0.345	T	0.36480	-0.9746	10	0.46703	T	0.11	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1033;1033;864;864;1033;1033	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1033;1033;1033;1033;1033;1033;864;864	ENSP00000295956:E1033K;ENSP00000420213:E1033K;ENSP00000351339:E1033K;ENSP00000415599:E1033K;ENSP00000232447:E1033K;ENSP00000349819:E1033K;ENSP00000418510:E864K;ENSP00000414532:E864K	ENSP00000295956:E1033K	E	+	1	0	FLNB	58082241	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.890000	0.87313	2.780000	0.95670	0.655000	0.94253	GAG		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		119	534	0	0	0	1	0	119	534				
DLGAP2	9228	broad.mit.edu	37	8	1497384	1497384	+	Silent	SNP	C	C	T	rs373372500		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	254					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCAACGCCAACGGCACCAAGG	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(523-525)aaC>aaT		discs, large (Drosophila) homolog-associated protein 2		C		6,4336		0,6,2165	14.0	21.0	19.0		525	-4.4	0.0	8		19	1,8561		0,1,4280	no	coding-synonymous	DLGAP2	NM_004745.3		0,7,6445	TT,TC,CC		0.0117,0.1382,0.0542		175/976	1497384	7,12897	2171	4281	6452	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497384C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.525C>T	8.37:g.1497384C>T							p.N175N	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	659	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	254					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.525C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	1.430	-0.570388	0.03910	0.001382	1.17E-4	ENSG00000198010	ENST00000520901	.	.	.	5.57	-4.39	0.03611	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63377	-0.6651	4	.	.	.	-13.2071	15.0453	0.71822	0.0:0.285:0.0:0.715	.	.	.	.	M	192	.	.	T	+	2	0	DLGAP2	1484791	0.085000	0.21516	0.019000	0.16419	0.196000	0.23810	-0.644000	0.05415	-0.909000	0.03852	-0.783000	0.03347	ACG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		18	53	0	0	0	1	0	18	53				
CCSER2	54462	broad.mit.edu	37	10	86131917	86131917	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:86131917A>T	ENST00000224756.8	+	2	1294	c.1109A>T	c.(1108-1110)aAt>aTt	p.N370I	CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	370					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CTGATTGAAAATGAAAGTTAT	0.378																																						ENST00000224756.8																			0											c.(1108-1110)aAt>aTt		coiled-coil serine-rich protein 2							93.0	91.0	92.0					10																	86131917		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86131917A>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1109A>T	10.37:g.86131917A>T	ENSP00000224756:p.Asn370Ile					CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I	p.N370I	NM_018999.2	NP_061872.2					2	1294	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1109A>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699591	0.48307	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50001	0.76;2.1;2.08	5.73	5.73	0.89815	.	0.239465	0.36665	N	0.002479	T	0.57814	0.2079	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.992	D;P;P	0.65010	0.931;0.837;0.839	T	0.61382	-0.7074	10	0.72032	D	0.01	-21.1188	8.5083	0.33201	0.9147:0.0:0.0853:0.0	.	370;370;370	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	I	370	ENSP00000353068:N370I;ENSP00000224756:N370I;ENSP00000361160:N370I	ENSP00000224756:N370I	N	+	2	0	FAM190B	86121897	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.214000	0.51161	2.197000	0.70478	0.533000	0.62120	AAT		0.378	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		114	411	0	0	0	1	0	114	411				
PRSS35	167681	broad.mit.edu	37	6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000369700.3	+	2	575	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000536636.1_Missense_Mutation_p.I133T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	133	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGGTTCAGCATCTTGGACAAA	0.458																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(397-399)aTc>aCc		protease, serine, 35							98.0	93.0	95.0					6																	84233558		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233558T>C	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.398T>C	6.37:g.84233558T>C	ENSP00000358714:p.Ile133Thr					PRSS35_ENST00000369700.3_Missense_Mutation_p.I133T	p.I133T	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	743	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	133			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.398T>C	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078192	0.76528	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72944	-0.4138	10	0.87932	D	0	-14.2535	16.0993	0.81158	0.0:0.0:0.0:1.0	.	133	Q8N3Z0	PRS35_HUMAN	T	133	ENSP00000440870:I133T;ENSP00000358714:I133T	ENSP00000358714:I133T	I	+	2	0	PRSS35	84290277	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.698000	0.84413	2.207000	0.71202	0.459000	0.35465	ATC		0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		105	421	0	0	0	1	0	105	421				
ADAMTSL2	9719	broad.mit.edu	37	9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000354484.4	+	3	739	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R170H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	61	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(508-510)cGc>cAc		ADAMTS-like 2							34.0	40.0	38.0					9																	136402618		2203	4298	6501	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136402618G>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.182G>A	9.37:g.136402618G>A	ENSP00000346478:p.Arg61His					ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H	p.R170H			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	3	941	+			61					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.509G>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156452	0.94686	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.52983	0.64;0.64;0.64	4.84	4.84	0.62591	.	0.000000	0.56097	U	0.000031	T	0.74496	0.3724	M	0.88704	2.975	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	10	0.87932	D	0	.	17.9259	0.88983	0.0:0.0:1.0:0.0	.	61	Q86TH1	ATL2_HUMAN	H	61;170;61	ENSP00000346478:R61H;ENSP00000376781:R170H;ENSP00000376780:R61H	ENSP00000346478:R61H	R	+	2	0	ADAMTSL2	135392439	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.401000	0.97294	2.229000	0.72834	0.491000	0.48974	CGC		0.672	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		51	244	0	0	0	1	0	51	244				
AC096579.13	0	broad.mit.edu	37	2	89111197	89111197	+	RNA	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:89111197C>T	ENST00000452230.1	-	0	207				MIR4436A_ENST00000585278.1_RNA																							AGCATGGTGACGAAGGCGAAG	0.562																																						ENST00000452230.1																			0																																																			0							g.chr2:89111197C>T																													2.37:g.89111197C>T														0	207	-									RNA	SNP	ENST00000452230.1	37																																																																																						0.562	AC096579.13-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323493.1			27	89	0	0	0	1	0	27	89				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			10	186	0	0	0	1	0	10	186				
ITK	3702	broad.mit.edu	37	5	156608099	156608099	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	37	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCAAAGCCAGCCTGGCATACT	0.398			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(109-111)agC>agT		IL2-inducible T-cell kinase							128.0	123.0	125.0					5																	156608099		2203	4300	6503	SO:0001819	synonymous_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608099C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.111C>T	5.37:g.156608099C>T							p.S37S	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	263	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	37			PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.111C>T	CCDS4336.1																																																																																				0.398	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			121	636	0	0	0	1	0	121	636				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		18	176	0	0	0	1	0	18	176				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	162	0	0	0	1	0	51	162				
CXorf22	170063	broad.mit.edu	37	X	35989882	35989882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	717										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCTGTGAGAAGAAAGGCA	0.368																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2149-2151)aGa>aAa		chromosome X open reading frame 22							54.0	49.0	51.0					X																	35989882		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989882G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2150G>A	X.37:g.35989882G>A	ENSP00000297866:p.Arg717Lys						p.R717K	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2216	+			717					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2150G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793016	0.00623	.	.	ENSG00000165164	ENST00000297866	T	0.13307	2.6	5.6	-7.87	0.01183	.	1.479880	0.03603	N	0.233690	T	0.05547	0.0146	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.06365	T	0.9	-14.1458	12.5433	0.56184	0.7855:0.1024:0.1122:0.0	.	717	Q6ZTR5	CX022_HUMAN	K	717	ENSP00000297866:R717K	ENSP00000297866:R717K	R	+	2	0	CXorf22	35899803	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.217000	0.02979	-1.390000	0.02087	-0.190000	0.12839	AGA		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		70	331	0	0	0	1	0	70	331				
FLT4	2324	broad.mit.edu	37	5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	189	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCATGCCCCGCCGGTCATCC	0.647																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(565-567)Cgg>Tgg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						72.0	67.0	69.0					5																	180057054		2200	4297	6497	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057054G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.565C>T	5.37:g.180057054G>A	ENSP00000261937:p.Arg189Trp					FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	p.R189W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	643	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	189			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.565C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611614	0.66558	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.05258	3.47;3.47;3.47	5.16	3.02	0.34903	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	M	0.65975	2.015	0.38025	D	0.934989	D;D;D;D	0.89917	0.999;1.0;0.989;0.989	P;D;P;P	0.65010	0.855;0.931;0.677;0.582	T	0.02138	-1.1207	9	0.56958	D	0.05	.	7.5225	0.27637	0.0:0.1296:0.4182:0.4522	.	189;189;189;189	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	189	ENSP00000261937:R189W;ENSP00000377016:R189W;ENSP00000426057:R189W	ENSP00000261937:R189W	R	-	1	2	FLT4	179989660	0.824000	0.29247	1.000000	0.80357	0.821000	0.46438	0.873000	0.28052	1.262000	0.44165	0.561000	0.74099	CGG		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			38	303	0	0	0	1	0	38	303				
ASB9	140462	broad.mit.edu	37	X	15266898	15266898	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000380488.4	-	6	1001	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.S243N	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	243	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GGCCAAGGGGCTCTCTGGAGG	0.557																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(727-729)aGc>aAc		ankyrin repeat and SOCS box containing 9							76.0	71.0	73.0					X																	15266898		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15266898C>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.728G>A	X.37:g.15266898C>T	ENSP00000369855:p.Ser243Asn					ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N	p.S243N	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1211	-	Hepatocellular(33;0.183)		243			SOCS box.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.728G>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.967	0.548435	0.13312	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	0.99;-0.17;-0.12;-0.17	5.78	1.15	0.20763	.	0.332697	0.42682	N	0.000673	T	0.47967	0.1474	L	0.39467	1.215	0.09310	N	1	B;B;B;B	0.24576	0.035;0.003;0.051;0.106	B;B;B;B	0.28139	0.019;0.005;0.086;0.063	T	0.35649	-0.9780	10	0.40728	T	0.16	-4.9969	6.2251	0.20703	0.0:0.6104:0.1283:0.2613	.	214;233;243;243	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	N	233;243;243;243	ENSP00000369850:S233N;ENSP00000369852:S243N;ENSP00000369855:S243N;ENSP00000438943:S243N	ENSP00000369850:S233N	S	-	2	0	ASB9	15176819	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.883000	0.28200	-0.105000	0.12132	-0.191000	0.12829	AGC		0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			77	421	0	0	0	1	0	77	421				
HEPH	9843	broad.mit.edu	37	X	65409671	65409671	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000343002.2	+	5	1618	c.954C>T	c.(952-954)caC>caT	p.H318H	HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000519389.1_Silent_p.H372H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H			Q9BQS7	HEPH_HUMAN	hephaestin	318	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGTGGACACCACACTGATG	0.507																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1114-1116)caC>caT		hephaestin							132.0	91.0	105.0					X																	65409671		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409671C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.954C>T	X.37:g.65409671C>T						HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H	p.H372H			Q9BQS7	HEPH_HUMAN			6	1295	+			318					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.1116C>T																																																																																					0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		45	189	0	0	0	1	0	45	189				
HCK	3055	broad.mit.edu	37	20	30662501	30662501	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000520553.1	+	5	588	c.342C>T	c.(340-342)cgC>cgT	p.R114R	HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000534862.1_Silent_p.R115R	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	135	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	ATGTCGCCCGCGTTGACTCTC	0.552																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(343-345)cgC>cgT		hemopoietic cell kinase							100.0	96.0	98.0					20																	30662501		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30662501C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.342C>T	20.37:g.30662501C>T						HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000520553.1_Silent_p.R114R	p.R115R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		6	708	+			135			SH3.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.345C>T	CCDS54455.1																																																																																				0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			98	487	0	0	0	1	0	98	487				
OR1K1	392392	broad.mit.edu	37	9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGGCACTCCGAGCCCTTCTC	0.582																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(907-909)cGa>cAa		olfactory receptor, family 1, subfamily K, member 1							47.0	43.0	44.0					9																	125563309		2203	4300	6503	SO:0001583	missense	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563309G>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.908G>A	9.37:g.125563309G>A	ENSP00000277309:p.Arg303Gln						p.R303Q	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	940	+			303					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.908G>A	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211147	0.09757	.	.	ENSG00000165204	ENST00000277309	T	0.39406	1.08	4.49	1.68	0.24146	.	0.252216	0.20517	N	0.090769	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.16867	-1.0388	10	0.23891	T	0.37	.	8.1058	0.30885	0.2689:0.0:0.7311:0.0	.	303	Q8NGR3	OR1K1_HUMAN	Q	303	ENSP00000277309:R303Q	ENSP00000277309:R303Q	R	+	2	0	OR1K1	124603130	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.119000	0.15626	0.171000	0.19730	-0.244000	0.11960	CGA		0.582	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			108	224	0	0	0	1	0	108	224				
PPEF1	5475	broad.mit.edu	37	X	18845404	18845404	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	587	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCTGATCTCCGTGGAAGAAT	0.418																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1759-1761)tcC>tcT		protein phosphatase, EF-hand calcium binding domain 1							80.0	75.0	77.0					X																	18845404		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18845404C>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1761C>T	X.37:g.18845404C>T						PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S	p.S587S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			19	2255	+	Hepatocellular(33;0.183)		587			EF-hand 2.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1761C>T	CCDS14188.1																																																																																				0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		108	439	0	0	0	1	0	108	439				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		4	83	0	0	0	1	0	4	83				
CCDC81	60494	broad.mit.edu	37	11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000445632.2	+	14	2058	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	596										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GATGAAGAAGCAGCGAGACCT	0.517																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(991-993)Cag>Tag		coiled-coil domain containing 81							136.0	113.0	121.0					11																	86131064		2202	4299	6501	SO:0001587	stop_gained	60494							g.chr11:86131064C>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1786C>T	11.37:g.86131064C>T	ENSP00000415528:p.Gln596*					CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*	p.Q331*			Q6ZN84	CCD81_HUMAN			13	2070	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	596					A0AVL7|Q53FW3|Q9H5E5	Nonsense_Mutation	SNP	ENST00000445632.2	37	c.991C>T	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	47	13.881331	0.99768	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.69	5.69	0.88448	.	0.208392	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0404	17.2949	0.87168	0.0:1.0:0.0:0.0	.	.	.	.	X	506;331;596;331	.	.	Q	+	1	0	CCDC81	85808712	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.566000	0.45948	2.685000	0.91497	0.555000	0.69702	CAG		0.517	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		63	271	0	0	0	1	0	63	271				
ZEB1	6935	broad.mit.edu	37	10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000320985.10	+	7	2661	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	851					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGTCAGCCCTGCAGTCCA	0.463																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2503-2505)Cct>Tct		zinc finger E-box binding homeobox 1							83.0	83.0	83.0					10																	31810814		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810814C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2551C>T	10.37:g.31810814C>T	ENSP00000319248:p.Pro851Ser					ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S	p.P835S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2894	+		Prostate(175;0.0156)	851					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2503C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067296	0.36470	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13778	2.86;2.57;2.59;2.56;2.6	5.68	4.78	0.61160	.	0.000000	0.56097	D	0.000028	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	B;D;D;P;D;B;D;P	0.89917	0.328;1.0;1.0;0.615;1.0;0.04;1.0;0.615	B;D;D;B;D;B;D;B	0.87578	0.076;0.998;0.996;0.158;0.996;0.034;0.996;0.158	T	0.03566	-1.1024	10	0.15499	T	0.54	-7.6384	15.0713	0.72040	0.0:0.9318:0.0:0.0682	.	784;851;835;851;851;831;852;851	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	633;851;852;846;784;851;831;742;835	ENSP00000444282:P633S;ENSP00000354487:P852S;ENSP00000444891:P784S;ENSP00000319248:P851S;ENSP00000391612:P835S	ENSP00000319248:P851S	P	+	1	0	ZEB1	31850820	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.779000	0.55379	1.534000	0.49203	0.650000	0.86243	CCT		0.463	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		62	269	0	0	0	1	0	62	269				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	189	0	0	0	1	0	7	189				
E2F3	1871	broad.mit.edu	37	6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	452	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGATGCTTACGATTTGGAAAA	0.468																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1354-1356)Gat>Aat		E2F transcription factor 3							123.0	120.0	121.0					6																	20490617		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20490617G>A	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1354G>A	6.37:g.20490617G>A	ENSP00000262904:p.Asp452Asn					E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	p.D452N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		7	1420	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		452			Transactivation (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.1354G>A	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.470974	0.84533	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.10288	2.89;3.01	5.79	5.79	0.91817	.	0.046857	0.85682	D	0.000000	T	0.21841	0.0526	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.57911	0.829	T	0.00379	-1.1777	10	0.66056	D	0.02	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	452	O00716	E2F3_HUMAN	N	115;452;321	ENSP00000262904:D452N;ENSP00000443418:D321N	ENSP00000262904:D452N	D	+	1	0	E2F3	20598596	1.000000	0.71417	0.941000	0.38009	0.685000	0.39939	9.476000	0.97823	2.746000	0.94184	0.561000	0.74099	GAT		0.468	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			155	731	0	0	0	1	0	155	731				
DNAH17	8632	broad.mit.edu	37	17	76571032	76571032	+	Silent	SNP	G	G	A	rs190167225	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000585328.1	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000389840.5_Silent_p.N36N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	36	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGCCACGTTCTCCTCGG	0.587													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17375	0.0		0.002	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(106-108)aaC>aaT		dynein, axonemal, heavy chain 17		G		0,4168		0,0,2084	57.0	61.0	59.0		108	2.6	0.8	17		59	2,8426		0,2,4212	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6296	AA,AG,GG		0.0237,0.0,0.0159		36/4463	76571032	2,12594	2084	4214	6298	SO:0001819	synonymous_variant	8632							g.chr17:76571032G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.108C>T	17.37:g.76571032G>A						DNAH17_ENST00000585328.1_Silent_p.N36N	p.N36N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	232	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.108C>T																																																																																					0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		10	137	0	0	0	1	0	10	137				
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	lincRNA	SNP	T	T	C	rs6583273	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837									long intergenic non-protein coding RNA 969																		TTGATGAGTATGATCACTCCA	0.468																																						ENST00000445430.1																			0																																																			0							g.chr3:195410640T>C	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410640T>C														0	1837	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.468	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	24	0	0	0	1	0	3	24				
SLC22A11	55867	broad.mit.edu	37	11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000301891.4	+	4	1129	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	252					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCTTTGCCCTGCGGGACTGG	0.627																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(754-756)cTg>cAg		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						74.0	80.0	78.0					11																	64329841		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329841T>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.755T>A	11.37:g.64329841T>A	ENSP00000301891:p.Leu252Gln					SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q	p.L252Q	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			4	1129	+			252					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.755T>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	18.76	3.692873	0.68271	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.68181	-0.31;-0.31;-0.31	3.58	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173586	0.38326	U	0.001730	T	0.81772	0.4893	M	0.86502	2.82	0.38636	D	0.951485	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.969;0.998;0.98;0.98	D	0.85294	0.1069	10	0.87932	D	0	.	10.2369	0.43288	0.0:0.0:0.0:1.0	.	252;46;252;252	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	Q	252	ENSP00000301891:L252Q;ENSP00000366809:L252Q;ENSP00000366804:L252Q	ENSP00000301891:L252Q	L	+	2	0	SLC22A11	64086417	0.996000	0.38824	1.000000	0.80357	0.752000	0.42762	6.548000	0.73896	1.512000	0.48834	0.454000	0.30748	CTG		0.627	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		11	660	0	0	0	1	0	11	660				
ASB1	51665	broad.mit.edu	37	2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000264607.4	+	2	385	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	46					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGCAGCTTACGTCGGGGACC	0.597																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(136-138)taC>taG		ankyrin repeat and SOCS box containing 1							66.0	61.0	63.0					2																	239342283		2203	4300	6503	SO:0001587	stop_gained	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239342283C>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.138C>G	2.37:g.239342283C>G	ENSP00000264607:p.Tyr46*					ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*	p.Y46*	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	2	385	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	46					A6NL50|Q4ZG29|Q9ULS4	Nonsense_Mutation	SNP	ENST00000264607.4	37	c.138C>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436599	0.96168	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	.	.	.	5.49	0.519	0.17035	.	0.253973	0.41823	D	0.000807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4737	0.38858	0.0:0.574:0.0:0.426	.	.	.	.	X	46	.	ENSP00000264607:Y46X	Y	+	3	2	ASB1	239007022	0.656000	0.27385	0.998000	0.56505	0.974000	0.67602	-0.326000	0.07965	0.037000	0.15575	-0.258000	0.10820	TAC		0.597	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		6	226	0	0	0	1	0	6	226				
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	lincRNA	SNP	A	A	G	rs201050938	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78212618A>G																													15.37:g.78212618A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			8	341	0	0	0	1	0	8	341				
FAT2	2196	broad.mit.edu	37	5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2249	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCCCAGAGCTGTATCCGT	0.473																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6745-6747)gCt>gAt		FAT atypical cadherin 2							101.0	102.0	102.0					5																	150923942		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923942G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6746C>A	5.37:g.150923942G>T	ENSP00000261800:p.Ala2249Asp						p.A2249D	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6758	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2249			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6746C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261414	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.65080	0.2657	L	0.42008	1.315	0.47245	D	0.999369	D	0.89917	1.0	D	0.77557	0.99	T	0.57365	-0.7824	10	0.12103	T	0.63	.	13.0521	0.58960	0.0733:0.0:0.9267:0.0	.	2249	Q9NYQ8	FAT2_HUMAN	D	2249	ENSP00000261800:A2249D	ENSP00000261800:A2249D	A	-	2	0	FAT2	150904135	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.043000	0.71004	2.683000	0.91414	0.561000	0.74099	GCT		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		104	552	1	0	2.68927e-46	1	3.09112e-46	104	552				
FMO1	2326	broad.mit.edu	37	1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	494					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCAGTGGGACCGAACATTCAA	0.478																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(1480-1482)Cga>Tga		flavin containing monooxygenase 1							101.0	96.0	98.0					1																	171254564		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171254564C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1480C>T	1.37:g.171254564C>T	ENSP00000346901:p.Arg494*					FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR	p.R494*			Q01740	FMO1_HUMAN			8	1611	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		494					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.1480C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316156	0.97467	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1246	9.8702	0.41168	0.139:0.7877:0.0:0.0732	.	.	.	.	X	494;431;494	.	ENSP00000346901:R494X	R	+	1	2	FMO1	169521188	0.653000	0.27358	0.971000	0.41717	0.929000	0.56500	1.341000	0.33907	1.372000	0.46190	-0.259000	0.10710	CGA		0.478	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		78	338	0	0	0	1	0	78	338				
DNAJC13	23317	broad.mit.edu	37	3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1187					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACCTGAAAAGTTTTCTGAGA	0.323																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3559-3561)aaG>aaT		DnaJ (Hsp40) homolog, subfamily C, member 13							40.0	46.0	44.0					3																	132209833		2200	4296	6496	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132209833G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3561G>T	3.37:g.132209833G>T	ENSP00000260818:p.Lys1187Asn						p.K1187N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			32	3809	+			1187					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3561G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367442	0.61513	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.13	3.06	0.35304	Armadillo-type fold (1);	0.072208	0.56097	D	0.000039	T	0.27832	0.0685	M	0.72576	2.205	0.50467	D	0.999872	P	0.52577	0.954	P	0.47981	0.563	T	0.03829	-1.1000	10	0.46703	T	0.11	.	8.6112	0.33804	0.2823:0.0:0.7177:0.0	.	1187	O75165	DJC13_HUMAN	N	1187	ENSP00000260818:K1187N	ENSP00000260818:K1187N	K	+	3	2	DNAJC13	133692523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.013000	0.29937	1.166000	0.42689	0.591000	0.81541	AAG		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		15	200	1	0	9.16793e-09	1	9.85799e-09	15	200				
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(622-624)cGa>cAa		calcium channel, voltage-dependent, gamma subunit 3							121.0	113.0	116.0					16																	24372859		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372859G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.623G>A	16.37:g.24372859G>A	ENSP00000005284:p.Arg208Gln						p.R208Q	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1825	+			208						Missense_Mutation	SNP	ENST00000005284.3	37	c.623G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189450	0.94923	.	.	ENSG00000006116	ENST00000005284	T	0.81163	-1.46	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87820	0.2637	10	0.32370	T	0.25	-7.4112	17.8423	0.88718	0.0:0.0:1.0:0.0	.	208	O60359	CCG3_HUMAN	Q	208	ENSP00000005284:R208Q	ENSP00000005284:R208Q	R	+	2	0	CACNG3	24280360	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGA		0.488	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		68	609	0	0	0	1	0	68	609				
CXorf21	80231	broad.mit.edu	37	X	30578132	30578132	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	114										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCAAGAAGATGGAACCAAGTA	0.443																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(340-342)cCa>cAa		chromosome X open reading frame 21							97.0	98.0	98.0					X																	30578132		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578132G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.341C>A	X.37:g.30578132G>T	ENSP00000368245:p.Pro114Gln						p.P114Q	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	663	-			114						Missense_Mutation	SNP	ENST00000378962.3	37	c.341C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515532	0.64634	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.94	4.05	0.47172	.	0.000000	0.64402	D	0.000005	T	0.75221	0.3820	M	0.66939	2.045	0.52501	D	0.999955	D	0.89917	1.0	D	0.81914	0.995	T	0.76934	-0.2775	9	0.54805	T	0.06	-14.154	12.9145	0.58199	0.0824:0.0:0.9176:0.0	.	114	Q9HAI6	CX021_HUMAN	Q	114	.	ENSP00000368245:P114Q	P	-	2	0	CXorf21	30488053	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.264000	0.78432	2.279000	0.76181	0.422000	0.28245	CCA		0.443	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		155	713	1	0	1.56038e-73	1	1.825e-73	155	713				
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGGAAGAACGTGGTTGCCAC	0.373													a|||	60	0.0119808	0.0401	0.0043	5008	,	,		17673	0.002		0.001	False		,,,				2504	0.001					ENST00000400153.2																			0																																																			0							g.chr15:23205098G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205098G>A								NR_003521.1						0	756	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	79	0	0	0	1	0	5	79				
SCN1A	6323	broad.mit.edu	37	2	166848439	166848439	+	Silent	SNP	G	G	A	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000303395.4	-	26	5345	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.I1782I|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1782			I -> M (in EIEE6; dbSNP:rs121918763). {ECO:0000269|PubMed:20522430}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATGACCGCGATGTACATGT	0.443																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5344-5346)atC>atT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						124.0	123.0	123.0					2																	166848439		2203	4297	6500	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848439G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5346C>T	2.37:g.166848439G>A						AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1782I|SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I	p.I1782I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5363	-			1782		I -> M (in SMEI; dbSNP:rs121918763).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5346C>T	CCDS54413.1																																																																																				0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		190	914	0	0	0	1	0	190	914				
FLNC	2318	broad.mit.edu	37	7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	441					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACATACAGACCTGCCATGG	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1321-1323)agA>agT		filamin C, gamma							87.0	97.0	94.0					7																	128478769		2127	4223	6350	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478769A>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1323A>T	7.37:g.128478769A>T	ENSP00000327145:p.Arg441Ser					FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1584	+			441					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1323A>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522233	0.44866	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	4.9	4.01	0.46588	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.483889	0.21640	N	0.071355	T	0.51924	0.1703	L	0.48642	1.525	0.43164	D	0.994953	B;B	0.21225	0.053;0.039	B;B	0.29440	0.038;0.102	T	0.52578	-0.8557	10	0.48119	T	0.1	.	4.0045	0.09595	0.1951:0.0:0.6163:0.1886	.	441;441	Q14315-2;Q14315	.;FLNC_HUMAN	S	441	ENSP00000327145:R441S;ENSP00000344002:R441S	ENSP00000327145:R441S	R	+	3	2	FLNC	128266005	0.385000	0.25172	0.997000	0.53966	0.975000	0.68041	-0.139000	0.10358	1.257000	0.44085	-0.366000	0.07423	AGA		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			104	604	0	0	0	1	0	104	604				
FANK1	92565	broad.mit.edu	37	10	127585212	127585212	+	Start_Codon_SNP	SNP	A	A	T	rs145156460		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:127585212A>T	ENST00000368693.1	+	1	105	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368695.1_De_novo_Start_InFrame			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	1						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M1L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCAGCCGACCATGGAGCCCCA	0.761																																						ENST00000368695.1																			1	Substitution - Missense(1)	p.M1L(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21								fibronectin type III and ankyrin repeat domains 1							9.0	12.0	11.0					10																	127585212		2172	4263	6435	SO:0001582	initiator_codon_variant	92565					cytoplasm|nucleus		g.chr10:127585212A>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.1A>T	10.37:g.127585212A>T	ENSP00000357682:p.Met1Leu					FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368693.1_Start_Codon_SNP_p.M1L		NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			0	105	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)						Q6UXY9|Q6X7T6	Translation_Start_Site	SNP	ENST00000368693.1	37		CCDS31309.1	.	.	.	.	.	.	.	.	.	.	A	7.904	0.735016	0.15574	.	.	ENSG00000203780	ENST00000368693	T	0.36520	1.25	2.62	2.62	0.31277	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.05886	-1.0858	8	0.25751	T	0.34	.	7.1163	0.25418	1.0:0.0:0.0:0.0	.	1;1	Q8TC84-3;Q8TC84	.;FANK1_HUMAN	L	1	ENSP00000357682:M1L	ENSP00000357682:M1L	M	+	1	0	FANK1	127575202	0.921000	0.31238	0.955000	0.39395	0.220000	0.24768	1.121000	0.31283	1.433000	0.47394	0.379000	0.24179	ATG		0.761	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	Missense_Mutation	3	41	0	0	0	1	0	3	41				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	85	0	0	0	1	0	8	85				
PDS5B	23047	broad.mit.edu	37	13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	352					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGACTTAACAGGTACTAT	0.368																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1054-1056)Aca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							98.0	85.0	89.0					13																	33253063		1833	4087	5920	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33253063A>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1054A>T	13.37:g.33253063A>T	ENSP00000313851:p.Thr352Ser						p.T352S	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	10	1240	+		Lung SC(185;0.0367)	352					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1054A>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770135	0.90108	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	L	0.54323	1.7	0.80722	D	1	P;B	0.45827	0.867;0.057	P;B	0.53062	0.717;0.058	T	0.67166	-0.5739	10	0.18276	T	0.48	-0.3507	15.5881	0.76502	1.0:0.0:0.0:0.0	.	352;352	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	S	352	ENSP00000313851:T352S	ENSP00000313851:T352S	T	+	1	0	PDS5B	32151063	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.191000	0.94940	2.090000	0.63153	0.459000	0.35465	ACA		0.368	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		36	185	0	0	0	1	0	36	185				
KCNT1	57582	broad.mit.edu	37	9	138675926	138675926	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000263604.3	+	25	2841	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A	KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000487664.1_Silent_p.A921A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	947					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTTCGCCGCCGGCCGCGTCT	0.667																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2896-2898)gcC>gcT		potassium channel, subfamily T, member 1							73.0	64.0	67.0					9																	138675926		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138675926C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2841C>T	9.37:g.138675926C>T						KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A	p.A966A			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	25	2972	+		Myeloproliferative disorder(178;0.0821)	966					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2898C>T																																																																																					0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		38	341	0	0	0	1	0	38	341				
HECW2	57520	broad.mit.edu	37	2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.3	-	3	578	c.396G>C	c.(394-396)atG>atC	p.M132I	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACTTACGTTCCATGAAATAGG	0.358																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(394-396)atG>atC		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							166.0	183.0	177.0					2																	197208385		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208385C>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.396G>C	2.37:g.197208385C>G	ENSP00000260983:p.Met132Ile					HECW2_ENST00000409111.1_5'UTR	p.M132I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			3	578	-			132					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.396G>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953035	0.53293	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.31247	1.5	6.06	6.06	0.98353	.	0.046101	0.85682	D	0.000000	T	0.31358	0.0794	L	0.54323	1.7	0.50171	D	0.99985	B	0.12013	0.005	B	0.15484	0.013	T	0.02533	-1.1145	10	0.37606	T	0.19	.	14.2555	0.66048	0.1491:0.8509:0.0:0.0	.	132	Q9P2P5	HECW2_HUMAN	I	132	ENSP00000260983:M132I	ENSP00000260983:M132I	M	-	3	0	HECW2	196916630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	ATG		0.358	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		79	1027	0	0	0	1	0	79	1027				
TCEAL5	340543	broad.mit.edu	37	X	102529240	102529240	+	Silent	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTCACTTTGTGGCTTGTCCT	0.587																																						ENST00000372680.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(250-252)ccA>ccT		transcription elongation factor A (SII)-like 5							144.0	117.0	126.0					X																	102529240		2203	4300	6503	SO:0001819	synonymous_variant	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529240T>A		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.252A>T	X.37:g.102529240T>A							p.P84P	NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN			3	546	-			84					A2RUJ4	Silent	SNP	ENST00000372680.1	37	c.252A>T	CCDS35356.1																																																																																				0.587	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		143	707	0	0	0	1	0	143	707				
SEMA6B	10501	broad.mit.edu	37	19	4555520	4555520	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000586965.1_Silent_p.Y176Y|SEMA6B_ENST00000301293.3_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	176	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGGGTCGTACGGGCAGC	0.602																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(526-528)taC>taT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							112.0	101.0	105.0					19																	4555520		2203	4300	6503	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4555520G>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.528C>T	19.37:g.4555520G>A						SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	838	-		Hepatocellular(1079;0.137)	176			Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.528C>T	CCDS12131.1																																																																																				0.602	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		39	177	0	0	0	1	0	39	177				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			11	222	1	0	1.08611e-07	1	1.16161e-07	11	222				
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs373357111		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AACAGCCCTGTCCCAAGGAAG	0.507																																						ENST00000411500.1																			0																																																			0							g.chr6:32521666T>C	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521666T>C								NR_001298.1						0	817	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.507	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	83	0	0	0	1	0	4	83				
CCT8L2	150160	broad.mit.edu	37	22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	127					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCGAGGCAGGCCAGCCTT	0.642																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(379-381)cTg>cAg		chaperonin containing TCP1, subunit 8 (theta)-like 2							47.0	40.0	42.0					22																	17073061		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073061A>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.380T>A	22.37:g.17073061A>T	ENSP00000353048:p.Leu127Gln						p.L127Q	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	639	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	127					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.380T>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	11.60	1.688445	0.29962	.	.	ENSG00000198445	ENST00000359963	T	0.80909	-1.43	2.0	2.0	0.26442	.	0.000000	0.29073	U	0.013223	D	0.86969	0.6061	M	0.80982	2.52	0.34168	D	0.669424	D	0.89917	1.0	D	0.83275	0.996	D	0.87908	0.2695	10	0.87932	D	0	-12.4381	5.9541	0.19263	1.0:0.0:0.0:0.0	.	127	Q96SF2	TCPQM_HUMAN	Q	127	ENSP00000353048:L127Q	ENSP00000353048:L127Q	L	-	2	0	CCT8L2	15453061	1.000000	0.71417	0.739000	0.30968	0.152000	0.21847	3.227000	0.51262	0.930000	0.37217	0.324000	0.21423	CTG		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			39	160	0	0	0	1	0	39	160				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		6	83	0	0	0	1	0	6	83				
OR13F1	138805	broad.mit.edu	37	9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTAATCATGCTGGTGATCA	0.433																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(595-597)atG>atA		olfactory receptor, family 13, subfamily F, member 1							341.0	304.0	317.0					9																	107267140		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267140G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.597G>A	9.37:g.107267140G>A	ENSP00000334452:p.Met199Ile						p.M199I	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	686	+			199					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.597G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918213	0.17982	.	.	ENSG00000186881	ENST00000334726	T	0.00048	8.82	4.29	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.091249	0.47093	N	0.000241	T	0.00073	0.0002	N	0.05608	-0.01	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.06391	-1.0829	10	0.30078	T	0.28	.	5.7443	0.18112	0.3867:0.0:0.6133:0.0	.	199	Q8NGS4	O13F1_HUMAN	I	199	ENSP00000334452:M199I	ENSP00000334452:M199I	M	+	3	0	OR13F1	106306961	0.006000	0.16342	0.148000	0.22405	0.993000	0.82548	0.163000	0.16520	0.572000	0.29383	0.650000	0.86243	ATG		0.433	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			80	1121	0	0	0	1	0	80	1121				
U2SURP	23350	broad.mit.edu	37	3	142741878	142741878	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142741878C>T	ENST00000473835.2	+	12	1292	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L|U2SURP_ENST00000397933.2_Missense_Mutation_p.H7Y	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	401	Pro-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGTTACCGCCACCTAAAAAC	0.403																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(19-21)Cac>Tac		U2 snRNP-associated SURP domain containing							32.0	30.0	30.0					3																	142741878		1843	4093	5936	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741878C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1202C>T	3.37:g.142741878C>T	ENSP00000418563:p.Pro401Leu					U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L|U2SURP_ENST00000473835.2_Missense_Mutation_p.P401L	p.H7Y			O15042	SR140_HUMAN			12	1301	+			0					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.19C>T	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639128|1.639128	0.29157|0.29157	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000397933|ENST00000473835;ENST00000319822;ENST00000493598	.|T;T	.|0.14144	.|2.53;2.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046853	.|0.85682	.|D	.|0.000000	T|T	0.14917|0.14917	0.0360|0.0360	L|L	0.48642|0.48642	1.525|1.525	0.37451|0.37451	D|D	0.914836|0.914836	B|B;B;B	0.15473|0.10296	0.013|0.003;0.002;0.001	B|B;B;B	0.17098|0.10450	0.017|0.002;0.005;0.002	T|T	0.03148|0.03148	-1.1067|-1.1067	8|10	0.87932|0.45353	D|T	0|0.12	-11.0642|-11.0642	13.5241|13.5241	0.61584|0.61584	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	7|401;400;401	O15042-3|B4DK81;O15042-2;O15042	.|.;.;SR140_HUMAN	Y|L	7|401;401;400	.|ENSP00000418563:P401L;ENSP00000422011:P400L	ENSP00000381027:H7Y|ENSP00000322376:P401L	H|P	+|+	1|2	0|0	U2SURP|U2SURP	144224568|144224568	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.600000|5.600000	0.67599|0.67599	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.403	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		7	58	0	0	0	1	0	7	58				
MROH9	80133	broad.mit.edu	37	1	170967516	170967516	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967516G>T	ENST00000367758.3	+	15	1796	c.1697G>T	c.(1696-1698)gGt>gTt	p.G566V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	566																	CTGAATGTTGGTTCTTACCAA	0.408																																						ENST00000367758.3																			0											c.(1696-1698)gGt>gTt		maestro heat-like repeat family member 9							130.0	112.0	117.0					1																	170967516		1836	4093	5929	SO:0001583	missense	80133							g.chr1:170967516G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1697G>T	1.37:g.170967516G>T	ENSP00000356732:p.Gly566Val					MROH9_ENST00000367759.4_Intron	p.G566V	NM_025063.2	NP_079339.2					15	1796	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1697G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	4.954	0.177286	0.09443	.	.	ENSG00000117501	ENST00000367758	T	0.18657	2.2	3.5	-5.73	0.02398	.	0.828757	0.10249	N	0.697367	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.33042	0.157	T	0.35549	-0.9784	10	0.87932	D	0	0.8303	0.4664	0.00525	0.2894:0.1345:0.3038:0.2723	.	566	Q5TGP6	CA129_HUMAN	V	566	ENSP00000356732:G566V	ENSP00000356732:G566V	G	+	2	0	C1orf129	169234140	0.050000	0.20438	0.000000	0.03702	0.015000	0.08874	-0.045000	0.12003	-1.222000	0.02587	0.446000	0.29264	GGT		0.408	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		43	282	1	0	6.2361e-21	1	6.96771e-21	43	282				
LRP1B	53353	broad.mit.edu	37	2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAGTGTAGTTCTTAGGGAGC	0.458										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4105-4107)agA>agT		low density lipoprotein receptor-related protein 1B							172.0	167.0	169.0					2																	141641448		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641448T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4107A>T	2.37:g.141641448T>A	ENSP00000374135:p.Arg1369Ser	TSP Lung(27;0.18)					p.R1369S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5078	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1369					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4107A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782993	0.49891	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97598	-4.45;-4.45	5.64	1.83	0.25207	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.92691	3.335	0.46725	D	0.999171	P;D	0.89917	0.771;1.0	P;D	0.87578	0.531;0.998	D	0.96886	0.9649	10	0.66056	D	0.02	.	6.582	0.22600	0.0:0.249:0.119:0.632	.	552;1369	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1369;1307;514	ENSP00000374135:R1369S;ENSP00000413239:R514S	ENSP00000374135:R1369S	R	-	3	2	LRP1B	141357918	0.999000	0.42202	0.982000	0.44146	0.896000	0.52359	0.411000	0.21115	0.125000	0.18397	0.533000	0.62120	AGA		0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		113	546	0	0	0	1	0	113	546				
CXADRP3	440224	broad.mit.edu	37	18	14478229	14478229	+	lincRNA	SNP	T	T	C	rs9956181	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:14478229T>C	ENST00000581457.1	-	0	1679					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CCCATTCGACTTAGATTAGGG	0.478													T|||	1611	0.321685	0.2201	0.3991	5008	,	,		16129	0.131		0.6183	False		,,,				2504	0.2955					ENST00000581457.1																			0																																																			0							g.chr18:14478229T>C			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478229T>C								NR_024076.1						0	1679	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.478	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		5	198	0	0	0	1	0	5	198				
FSTL4	23105	broad.mit.edu	37	5	132535363	132535363	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	651						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCGCCCAGGTGGGTGTGTG	0.622																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1951-1953)caC>caT		follistatin-like 4							40.0	42.0	42.0					5																	132535363		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132535363G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1953C>T	5.37:g.132535363G>A						CTB-49A3.2_ENST00000509051.1_RNA	p.H651H	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2202	-		all_cancers(142;0.244)	651					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1953C>T	CCDS34238.1																																																																																				0.622	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		38	148	0	0	0	1	0	38	148				
FAM86EP	348926	broad.mit.edu	37	4	3944184	3944184	+	RNA	SNP	C	C	T	rs34583792	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:3944184C>T	ENST00000313946.8	-	0	2147									family with sequence similarity 86, member E, pseudogene																		CTGCGGGAGTCGCAGCAGCTC	0.532													.|||	3093	0.617612	0.6104	0.7651	5008	,	,		17189	0.4544		0.6978	False		,,,				2504	0.6084					ENST00000313946.8																			0																																																			0							g.chr4:3944184C>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3944184C>T														0	2147	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.532	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			5	164	0	0	0	1	0	5	164				
PCDHA4	56144	broad.mit.edu	37	5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1507-1509)gCg>gTg									55.0	56.0	56.0					5																	140188280		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188280C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1508C>T	5.37:g.140188280C>T	ENSP00000435300:p.Ala503Val					PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A503V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1508C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350279	0.41599	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.65;0.59;0.62	4.18	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.47097	0.1427	L	0.28344	0.845	0.19300	N	0.999977	P;P;D	0.54047	0.902;0.937;0.964	P;P;P	0.56398	0.559;0.797;0.596	T	0.32771	-0.9894	10	0.72032	D	0.01	.	3.1704	0.06550	0.1412:0.561:0.1371:0.1606	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	503	ENSP00000423470:A503V;ENSP00000349344:A503V;ENSP00000435300:A503V	ENSP00000349344:A503V	A	+	2	0	PCDHA4	140168464	0.000000	0.05858	0.562000	0.28370	0.709000	0.40893	-0.289000	0.08365	0.030000	0.15379	0.580000	0.79431	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		60	361	0	0	0	1	0	60	361				
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443																																						ENST00000383555.2																			1	Substitution - Missense(1)	p.L249V(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(745-747)Ctt>Att		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							218.0	214.0	216.0					6																	29365221		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365221C>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.745C>A	6.37:g.29365221C>A	ENSP00000373047:p.Leu249Ile					OR5V1_ENST00000377154.1_Intron	p.L249I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	806	+			249					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.745C>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306945	0.23821	.	.	ENSG00000168787	ENST00000383555	T	0.00256	8.42	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00073	0.0002	L	0.37630	1.12	0.09310	N	1	B	0.33755	0.424	B	0.43916	0.436	T	0.07693	-1.0759	10	0.22109	T	0.4	.	6.48	0.22057	0.0:0.5558:0.275:0.1692	.	249	P58182	O12D2_HUMAN	I	249	ENSP00000373047:L249I	ENSP00000373047:L249I	L	+	1	0	OR12D2	29473200	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.686000	0.05161	0.314000	0.23086	0.205000	0.17691	CTT		0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			157	757	1	0	3.63811e-69	1	4.23036e-69	157	757				
AGBL1	123624	broad.mit.edu	37	15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	716					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAGATGTTCTCTGCCAGACG	0.483																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2146-2148)cTc>cCc		ATP/GTP binding protein-like 1							84.0	83.0	83.0					15																	86838550		1968	4159	6127	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838550T>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2147T>C	15.37:g.86838550T>C	ENSP00000413001:p.Leu716Pro					AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	p.L716P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2242	+			716					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2147T>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040625	0.75732	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13307	2.6;2.6	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000003	T	0.50701	0.1631	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.66500	-0.5908	10	0.87932	D	0	-23.9349	13.6996	0.62599	0.0:0.0:0.0:1.0	.	415;447;716	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	745;716;447	ENSP00000397173:L716P;ENSP00000373949:L447P	ENSP00000373949:L447P	L	+	2	0	AGBL1	84639554	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	6.505000	0.73708	2.170000	0.68504	0.528000	0.53228	CTC		0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		10	284	0	0	0	1	0	10	284				
OR10A6	390093	broad.mit.edu	37	11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAAATATAATTAATTTCAT	0.338																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(433-435)aTt>aCt		olfactory receptor, family 10, subfamily A, member 6							37.0	43.0	41.0					11																	7949776		2187	4292	6479	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949776A>G	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.434T>C	11.37:g.7949776A>G	ENSP00000312470:p.Ile145Thr						p.I145T	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	433	-			145					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.434T>C	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	1.813	-0.474282	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.43688	0.94	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.614618	0.13200	N	0.406025	T	0.30039	0.0752	N	0.16862	0.45	0.09310	N	1	B	0.22080	0.064	B	0.23852	0.049	T	0.24225	-1.0166	10	0.62326	D	0.03	.	11.9092	0.52729	1.0:0.0:0.0:0.0	.	145	Q8NH74	O10A6_HUMAN	T	145	ENSP00000312470:I145T	ENSP00000312470:I145T	I	-	2	0	OR10A6	7906352	0.000000	0.05858	0.154000	0.22540	0.014000	0.08584	1.296000	0.33389	1.983000	0.57843	0.533000	0.62120	ATT		0.338	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		82	266	0	0	0	1	0	82	266				
PCNXL2	80003	broad.mit.edu	37	1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	446						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTGCCTTCGGGACAGGGAAC	0.572																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1336-1338)cCc>cGc		pecanex-like 2 (Drosophila)							77.0	82.0	80.0					1																	233394271		1967	4157	6124	SO:0001583	missense	80003					integral to membrane		g.chr1:233394271G>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1337C>G	1.37:g.233394271G>C	ENSP00000258229:p.Pro446Arg					PCNXL2_ENST00000430153.1_5'UTR	p.P446R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1571	-		all_cancers(173;0.0347)|Prostate(94;0.137)	446					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1337C>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439400	0.25900	.	.	ENSG00000135749	ENST00000258229	T	0.08458	3.09	4.82	4.82	0.62117	.	.	.	.	.	T	0.06462	0.0166	N	0.19112	0.55	0.23293	N	0.997962	B	0.28713	0.22	B	0.24006	0.05	T	0.33292	-0.9874	9	0.23891	T	0.37	.	13.897	0.63778	0.0:0.0:0.8472:0.1528	.	446	A6NKB5	PCX2_HUMAN	R	446	ENSP00000258229:P446R	ENSP00000258229:P446R	P	-	2	0	PCNXL2	231460894	0.205000	0.23458	0.018000	0.16275	0.005000	0.04900	2.254000	0.43214	2.484000	0.83849	0.655000	0.94253	CCC		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		106	376	0	0	0	1	0	106	376				
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000331010.6	+	1	664	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R207Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	194					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			1	Substitution - Missense(1)	p.R194P(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(619-621)cGa>cAa		neurotrophin 3							56.0	55.0	56.0					12																	5603961		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603961G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.581G>A	12.37:g.5603961G>A	ENSP00000328738:p.Arg194Gln					NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q	p.R207Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	832	+			194					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.620G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118561	0.77323	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.68181	-0.31;-0.31	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.049532	0.64402	D	0.000001	T	0.72203	0.3431	M	0.64997	1.995	0.46564	D	0.999104	D;D	0.76494	0.999;0.999	P;P	0.48815	0.591;0.591	T	0.76664	-0.2876	10	0.87932	D	0	-29.9681	18.2818	0.90101	0.0:0.0:1.0:0.0	.	194;207	P20783;B7Z1T5	NTF3_HUMAN;.	Q	207;194	ENSP00000397297:R207Q;ENSP00000328738:R194Q	ENSP00000328738:R194Q	R	+	2	0	NTF3	5474222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	3.780000	0.55386	2.583000	0.87209	0.650000	0.86243	CGA		0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			47	250	0	0	0	1	0	47	250				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		8	68	0	0	0	1	0	8	68				
SPARC	6678	broad.mit.edu	37	5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	147	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TTGCAAGGCCCGATGTAGTCC	0.572																																						ENST00000231061.4																			0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(439-441)Ggg>Agg		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						106.0	93.0	98.0					5																	151049237		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151049237C>T		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.439G>A	5.37:g.151049237C>T	ENSP00000231061:p.Gly147Arg						p.G147R	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	6	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	147			Kazal-like.		D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.439G>A	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075918	0.94000	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	D;D;D	0.87650	-2.28;-2.28;-2.28	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.093699	0.85682	D	0.000000	D	0.95252	0.8460	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95663	0.8717	10	0.87932	D	0	-29.1188	19.8471	0.96713	0.0:1.0:0.0:0.0	.	147	P09486	SPRC_HUMAN	R	147;56;56	ENSP00000231061:G147R;ENSP00000440127:G56R;ENSP00000428119:G56R	ENSP00000231061:G147R	G	-	1	0	SPARC	151029430	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.311000	0.78958	2.688000	0.91661	0.655000	0.94253	GGG		0.572	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		26	245	0	0	0	1	0	26	245				
RAB39A	54734	broad.mit.edu	37	11	107832887	107832887	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:107832887A>T	ENST00000320578.2	+	2	509	c.443A>T	c.(442-444)gAc>gTc	p.D148V		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	148					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										CTGTCAGCAGACTGTGGAATG	0.373																																						ENST00000320578.2																			0											c.(442-444)gAc>gTc		RAB39A, member RAS oncogene family							83.0	82.0	82.0					11																	107832887		2201	4298	6499	SO:0001583	missense	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832887A>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.443A>T	11.37:g.107832887A>T	ENSP00000322594:p.Asp148Val						p.D148V	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	509	+			148					A8KAA4|Q8N6W2	Missense_Mutation	SNP	ENST00000320578.2	37	c.443A>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021180	0.35701	.	.	ENSG00000179331	ENST00000320578	T	0.77229	-1.08	4.97	3.83	0.44106	Small GTP-binding protein domain (1);	0.101127	0.42964	D	0.000638	T	0.68860	0.3047	L	0.38838	1.175	0.54753	D	0.999984	B	0.15719	0.014	B	0.21151	0.033	T	0.69705	-0.5073	10	0.87932	D	0	.	11.9655	0.53033	0.7684:0.2315:0.0:0.0	.	148	Q14964	RB39A_HUMAN	V	148	ENSP00000322594:D148V	ENSP00000322594:D148V	D	+	2	0	RAB39	107338097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.952000	0.40343	2.064000	0.61679	0.482000	0.46254	GAC		0.373	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		87	408	0	0	0	1	0	87	408				
PCDHA7	56141	broad.mit.edu	37	5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGCGTTCGCGCAGCCCGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1366-1368)Gcg>Acg									56.0	60.0	59.0					5																	140215334		2203	4299	6502	SO:0001583	missense	0							g.chr5:140215334G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1366G>A	5.37:g.140215334G>A	ENSP00000436426:p.Ala456Thr					PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	p.A456T	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1366	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1366G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624705	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01359	4.98;4.98	4.0	-1.5	0.08691	Cadherin (3);Cadherin-like (1);	0.287183	0.17581	U	0.169114	T	0.00815	0.0027	N	0.05534	-0.03	0.09310	N	1	B;B	0.25105	0.118;0.091	B;B	0.30495	0.069;0.116	T	0.45775	-0.9238	10	0.44086	T	0.13	.	1.4843	0.02444	0.2051:0.1061:0.364:0.3248	.	456;456	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	456	ENSP00000436426:A456T;ENSP00000367365:A456T	ENSP00000367365:A456T	A	+	1	0	PCDHA7	140195518	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.809000	0.04510	-0.802000	0.04421	-2.305000	0.00258	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		84	483	0	0	0	1	0	84	483				
ARHGEF37	389337	broad.mit.edu	37	5	149001460	149001460	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	390	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGAGGAGGCCGCCCGGCACA	0.577																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1168-1170)gcC>gcT		Rho guanine nucleotide exchange factor (GEF) 37							64.0	76.0	72.0					5																	149001460		2097	4214	6311	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149001460C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1170C>T	5.37:g.149001460C>T							p.A390A	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			9	1333	+			390			BAR.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.1170C>T	CCDS43385.1																																																																																				0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		36	411	0	0	0	1	0	36	411				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		8	142	0	0	0	1	0	8	142				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		14	371	0	0	0	1	0	14	371				
MRPL45P2	653479	broad.mit.edu	37	17	45567651	45567651	+	RNA	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:45567651A>T	ENST00000575291.1	-	0	265									mitochondrial ribosomal protein L45 pseudogene 2																		CATAGGCATCAAATATACCAG	0.343																																						ENST00000575291.1																			0																																																			0							g.chr17:45567651A>T			17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45567651A>T														0	265	-									RNA	SNP	ENST00000575291.1	37			.	.	.	.	.	.	.	.	.	.	.	15.56	2.870598	0.51588	.	.	ENSG00000228782	ENST00000425159	.	.	.	2.85	2.85	0.33270	.	.	.	.	.	T	0.43567	0.1253	.	.	.	.	.	.	.	.	.	.	.	.	T	0.53034	-0.8495	4	0.34782	T	0.22	-8.6028	7.4655	0.27320	1.0:0.0:0.0:0.0	.	.	.	.	L	85	.	ENSP00000411291:F85L	F	-	3	2	AC040934.1	42922650	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	2.466000	0.45084	1.305000	0.44909	0.373000	0.22412	TTT		0.343	MRPL45P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441112.1	NR_033934		7	154	0	0	0	1	0	7	154				
VPS13D	55187	broad.mit.edu	37	1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGAGCCTGTGTTTGCATC	0.542																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(724-726)Gtg>Ctg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							172.0	159.0	163.0					1																	12316444		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12316444G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.724G>C	1.37:g.12316444G>C	ENSP00000350854:p.Val242Leu					VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	p.V242L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	8	854	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	242						Missense_Mutation	SNP	ENST00000358136.3	37	c.724G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748117	0.69533	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41400	1.0;1.0	5.94	5.03	0.67393	.	0.125158	0.53938	D	0.000060	T	0.37598	0.1009	L	0.50333	1.59	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.30572	0.117;0.055	T	0.26744	-1.0094	10	0.54805	T	0.06	.	9.8912	0.41292	0.1488:0.0:0.8512:0.0	.	242;242	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	242	ENSP00000348666:V242L;ENSP00000350854:V242L	ENSP00000348666:V242L	V	+	1	0	VPS13D	12239031	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	5.297000	0.65704	2.820000	0.97059	0.650000	0.86243	GTG		0.542	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		294	669	0	0	0	1	0	294	669				
SPTBN4	57731	broad.mit.edu	37	19	41009810	41009810	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:41009810C>T	ENST00000352632.3	+	12	1522	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	479					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGACATTGCGGCCTACGAG	0.637																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1435-1437)gCg>gTg		spectrin, beta, non-erythrocytic 4							45.0	44.0	44.0					19																	41009810		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009810C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1436C>T	19.37:g.41009810C>T	ENSP00000263373:p.Ala479Val					SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V	p.A479V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1522	+			479					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1436C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.792428	0.31685	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54279	0.58;0.58;0.58	4.2	4.2	0.49525	.	0.093190	0.41194	U	0.000921	T	0.41743	0.1172	L	0.39566	1.225	0.80722	D	1	P;P	0.40032	0.699;0.501	B;B	0.36719	0.231;0.054	T	0.29274	-1.0017	10	0.16896	T	0.51	.	15.4391	0.75168	0.0:1.0:0.0:0.0	.	479;479	Q9H254;Q71S06	SPTN4_HUMAN;.	V	479	ENSP00000263373:A479V;ENSP00000340345:A479V;ENSP00000340741:A479V	ENSP00000340345:A479V	A	+	2	0	SPTBN4	45701650	0.786000	0.28738	0.982000	0.44146	0.761000	0.43186	4.710000	0.61873	2.180000	0.69256	0.486000	0.48141	GCG		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			5	173	0	0	0	1	0	5	173				
NOBOX	135935	broad.mit.edu	37	7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(904-906)cGc>cAc		NOBOX oogenesis homeobox							87.0	80.0	83.0					7																	144097345		1892	4124	6016	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097345C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His					NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			5	904	-	Melanoma(164;0.14)		302					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC		0.557	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		68	288	0	0	0	1	0	68	288				
FDXACB1	91893	broad.mit.edu	37	11	111749420	111749420	+	Silent	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000260257.4	-	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	63					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGTCCACACCGAAACGTACAT	0.458											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(187-189)ttC>ttT		ALG9, alpha-1,2-mannosyltransferase							35.0	34.0	35.0					11																	111749420		1922	4123	6045	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111749420G>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.189C>T	11.37:g.111749420G>A			OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	FDXACB1_ENST00000260257.4_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron	p.F63F			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	2	481	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.189C>T	CCDS44729.1																																																																																				0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		3	73	0	0	0	1	0	3	73				
ERO1L	30001	broad.mit.edu	37	14	53110325	53110325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:53110325A>T	ENST00000395686.3	-	16	1593	c.1370T>A	c.(1369-1371)tTa>tAa	p.L457*	RP11-841O20.2_ENST00000554055.1_RNA	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	457					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAGTTTTCTAATTCTTTCAC	0.303																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1369-1371)tTa>tAa		ERO1-like (S. cerevisiae)							44.0	40.0	41.0					14																	53110325		2184	4289	6473	SO:0001587	stop_gained	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53110325A>T	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1370T>A	14.37:g.53110325A>T	ENSP00000379042:p.Leu457*						p.L457*	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			16	1593	-	Breast(41;0.226)		457					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Nonsense_Mutation	SNP	ENST00000395686.3	37	c.1370T>A	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	A	38	7.030927	0.98013	.	.	ENSG00000197930	ENST00000395686	.	.	.	5.54	5.54	0.83059	.	0.224298	0.37906	N	0.001898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.329	15.1606	0.72782	1.0:0.0:0.0:0.0	.	.	.	.	X	457	.	ENSP00000379042:L457X	L	-	2	0	ERO1L	52180075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.104000	0.89551	2.230000	0.72887	0.528000	0.53228	TTA		0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		4	43	0	0	0	1	0	4	43				
CSMD2	114784	broad.mit.edu	37	1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T	rs373586316		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373380.1	-	22	3495	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373381.4_Missense_Mutation_p.R2219H|CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2221	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTTGAGGCGGACGCCATG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18234	0.0		0.0	False		,,,				2504	0.001					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6655-6657)cGc>cAc		CUB and Sushi multiple domains 2		C	HIS/ARG	0,4406		0,0,2203	69.0	70.0	70.0		6662	-3.3	0.7	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2221/3488	34068023	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34068023C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3275G>A	1.37:g.34068023C>T	ENSP00000362478:p.Arg1092His					CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR	p.R2219H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			43	6832	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2221			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6656G>A		.	.	.	.	.	.	.	.	.	.	C	11.50	1.657455	0.29425	0.0	1.16E-4	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.28	-3.3	0.05003	CUB (5);	0.777035	0.12272	N	0.483686	T	0.07773	0.0195	N	0.16478	0.41	0.26223	N	0.979134	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.39375	-0.9617	10	0.18710	T	0.47	.	7.3106	0.26473	0.1403:0.1536:0.0:0.7061	.	1092;2221;2219	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	2219;1092;318;318	ENSP00000362479:R2219H;ENSP00000362478:R1092H;ENSP00000362475:R318H;ENSP00000362486:R318H	ENSP00000241312:R2221H	R	-	2	0	CSMD2	33840610	0.246000	0.23909	0.678000	0.29963	0.858000	0.48976	0.231000	0.17872	-0.459000	0.07013	-0.143000	0.13931	CGC		0.577	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		39	177	0	0	0	1	0	39	177				
ASPM	259266	broad.mit.edu	37	1	197071382	197071382	+	Silent	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCTGTGCATCTCTCGCATCC	0.408																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6997-6999)gaG>gaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							147.0	137.0	141.0					1																	197071382		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071382C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6999G>A	1.37:g.197071382C>T						ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.E2333E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7255	-			2333			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6999G>A	CCDS1389.1																																																																																				0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		116	561	0	0	0	1	0	116	561				
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	lincRNA	SNP	A	A	G	rs6583272	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824									long intergenic non-protein coding RNA 969																		CCTCAGGTGCAGATTGATGAG	0.473																																						ENST00000445430.1																			0																																																			0							g.chr3:195410627A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410627A>G														0	1824	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.473	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	25	0	0	0	1	0	4	25				
FOXO3	2309	broad.mit.edu	37	6	108985160	108985160	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:108985160C>G	ENST00000343882.6	+	3	1428	c.1124C>G	c.(1123-1125)aCc>aGc	p.T375S	FOXO3_ENST00000406360.1_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	375					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATGGCAGGCACCATGAATCTG	0.582																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1123-1125)aCc>aGc		forkhead box O3							44.0	42.0	43.0					6																	108985160		2203	4300	6503	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985160C>G	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1124C>G	6.37:g.108985160C>G	ENSP00000339527:p.Thr375Ser					FOXO3_ENST00000343882.6_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	p.T375S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1467	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	375					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1124C>G	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488937	0.26686	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.89681	-2.55;-2.55	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.43923	1.385	0.80722	D	1	P	0.40660	0.726	B	0.39617	0.305	T	0.80350	-0.1419	10	0.07325	T	0.83	-33.6779	19.4179	0.94709	0.0:1.0:0.0:0.0	.	375	O43524	FOXO3_HUMAN	S	375;375;155;155	ENSP00000339527:T375S;ENSP00000385824:T375S	ENSP00000339527:T375S	T	+	2	0	FOXO3	109091853	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.412000	0.80091	2.595000	0.87683	0.462000	0.41574	ACC		0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			6	227	0	0	0	1	0	6	227				
A4GNT	51146	broad.mit.edu	37	3	137849964	137849964	+	Silent	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	45					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTGGCTCAGGAGGGCTTCCA	0.537																																						ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(133-135)ctC>ctG		alpha-1,4-N-acetylglucosaminyltransferase							81.0	83.0	82.0					3																	137849964		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849964G>C	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.135C>G	3.37:g.137849964G>C							p.L45L	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			2	336	-			45					Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.135C>G	CCDS3097.1																																																																																				0.537	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		68	345	0	0	0	1	0	68	345				
SVEP1	79987	broad.mit.edu	37	9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000401783.2	-	38	9069	c.8733G>C	c.(8731-8733)aaG>aaC	p.K2911N	SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2911	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGTTACTTCCTTCATGAAGC	0.552																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8731-8733)aaG>aaC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							103.0	104.0	104.0					9																	113169147		2061	4208	6269	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169147C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8733G>C	9.37:g.113169147C>G	ENSP00000384917:p.Lys2911Asn					SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	p.K2911N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9069	-			2911			Sushi 25.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8733G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927013	0.34002	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.285646	0.43919	D	0.000511	T	0.44808	0.1311	L	0.31526	0.94	0.80722	D	1	P	0.40578	0.722	B	0.39617	0.305	T	0.29912	-0.9996	10	0.30854	T	0.27	.	5.6066	0.17383	0.0:0.6236:0.0:0.3764	.	2911	Q4LDE5	SVEP1_HUMAN	N	2911;2888;837	ENSP00000384917:K2911N;ENSP00000363593:K2888N;ENSP00000297826:K837N	ENSP00000297826:K837N	K	-	3	2	SVEP1	112208968	0.920000	0.31207	1.000000	0.80357	0.876000	0.50452	-0.039000	0.12124	1.303000	0.44873	0.591000	0.81541	AAG		0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				92	652	0	0	0	1	0	92	652				
IGSF1	3547	broad.mit.edu	37	X	130409231	130409231	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000361420.3	-	17	3293	c.3214C>G	c.(3214-3216)Cag>Gag	p.Q1072E	IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1072	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Q1072*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGACCAGGCTGGGCTAATAGG	0.542																																						ENST00000370904.1																			1	Substitution - Nonsense(1)	p.Q1072*(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3187-3189)Cag>Gag		immunoglobulin superfamily, member 1							79.0	82.0	81.0					X																	130409231		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409231G>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3214C>G	X.37:g.130409231G>C	ENSP00000355010:p.Gln1072Glu					IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E	p.Q1063E			Q8N6C5	IGSF1_HUMAN			23	4097	-			1072					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3187C>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474766	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.751183	0.12360	N	0.475750	T	0.03651	0.0104	L	0.38953	1.18	0.28842	N	0.89655	B;B;B	0.23650	0.082;0.089;0.079	B;B;B	0.25614	0.036;0.062;0.039	T	0.25293	-1.0136	10	0.29301	T	0.29	.	12.231	0.54488	0.0:0.0:1.0:0.0	.	1063;516;1072	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	1063;1072;1063;1077	ENSP00000359947:Q1063E;ENSP00000355010:Q1072E;ENSP00000359941:Q1063E;ENSP00000359940:Q1077E	ENSP00000355010:Q1072E	Q	-	1	0	IGSF1	130236912	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	1.912000	0.39946	2.376000	0.81061	0.594000	0.82650	CAG		0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			162	945	0	0	0	1	0	162	945				
AK7	122481	broad.mit.edu	37	14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	46					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGGGCTTCGCTTGAAGAAATT	0.418																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(136-138)cTt>cGt		adenylate kinase 7							99.0	100.0	100.0					14																	96864443		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864443T>G	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.137T>G	14.37:g.96864443T>G	ENSP00000267584:p.Leu46Arg					AK7_ENST00000555570.1_Missense_Mutation_p.L46R	p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	181	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	46					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.137T>G	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934844	0.52866	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.59906	0.23	5.35	5.35	0.76521	.	0.410741	0.24182	N	0.040799	T	0.72771	0.3502	L	0.60455	1.87	0.54753	D	0.99998	B;D	0.89917	0.206;1.0	B;D	0.91635	0.043;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.42	14.9864	0.71351	0.0:0.0:0.0:1.0	.	46;46	Q96M32;G3V365	KAD7_HUMAN;.	R	46	ENSP00000267584:L46R	ENSP00000267584:L46R	L	+	2	0	AK7	95934196	0.996000	0.38824	0.290000	0.24890	0.970000	0.65996	5.104000	0.64584	2.044000	0.60594	0.402000	0.26972	CTT		0.418	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			78	485	0	0	0	1	0	78	485				
TAS2R42	353164	broad.mit.edu	37	12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	216					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAGGAACTGAGCTTCAAATTT	0.418																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(646-648)Ctc>Ttc		taste receptor, type 2, member 42							62.0	65.0	64.0					12																	11338898		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338898G>A	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.646C>T	12.37:g.11338898G>A	ENSP00000334050:p.Leu216Phe						p.L216F	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	645	-			216					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.646C>T	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472116	0.12461	.	.	ENSG00000186136	ENST00000334266	T	0.00832	5.64	3.46	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.571166	0.14537	N	0.313489	T	0.02304	0.0071	M	0.69248	2.105	0.09310	N	1	P	0.41475	0.751	P	0.50860	0.652	T	0.38650	-0.9651	10	0.49607	T	0.09	.	6.0575	0.19819	0.0:0.2103:0.5725:0.2171	.	216	Q7RTR8	T2R42_HUMAN	F	216	ENSP00000334050:L216F	ENSP00000334050:L216F	L	-	1	0	TAS2R42	11230165	0.000000	0.05858	0.250000	0.24296	0.001000	0.01503	0.335000	0.19806	0.302000	0.22762	-1.083000	0.02208	CTC		0.418	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		82	383	0	0	0	1	0	82	383				
MUC4	4585	broad.mit.edu	37	3	195517059	195517059	+	Silent	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195517059C>A	ENST00000463781.3	-	2	1851	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	469					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCATGAGGCCGTCCTGTGG	0.493																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1390-1392)cgG>cgT		mucin 4, cell surface associated							179.0	177.0	177.0					3																	195517059		1964	4143	6107	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517059C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1392G>T	3.37:g.195517059C>A						MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.R464R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1851	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	469					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1392G>T	CCDS54700.1																																																																																				0.493	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		15	755	1	0	0.000219431	1	0.000226218	15	755				
ZNF521	25925	broad.mit.edu	37	18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	764					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGTCAGTTTCGTTGCGGAAG	0.473			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2290-2292)Gaa>Aaa		zinc finger protein 521							97.0	85.0	89.0					18																	22805592		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805592C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2290G>A	18.37:g.22805592C>T	ENSP00000354794:p.Glu764Lys					ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K	p.E764K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2438	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		764					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2290G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334661	0.24253	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08370	3.1;3.13	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.04116	-0.275	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.41752	-0.9491	10	0.07482	T	0.82	-36.5484	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764	Q96K83	ZN521_HUMAN	K	764;798;764	ENSP00000354794:E764K;ENSP00000382352:E764K	ENSP00000354794:E764K	E	-	1	0	ZNF521	21059590	1.000000	0.71417	0.973000	0.42090	0.406000	0.30931	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		28	260	0	0	0	1	0	28	260				
GALR1	2587	broad.mit.edu	37	18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCACTCGCGGCGCTCCTCCTC	0.657																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(424-426)Cgc>Tgc		galanin receptor 1							61.0	52.0	55.0					18																	74962928		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962928C>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.424C>T	18.37:g.74962928C>T	ENSP00000299727:p.Arg142Cys						p.R142C	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	424	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	142					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.424C>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897440	0.52121	.	.	ENSG00000166573	ENST00000299727	T	0.43294	0.95	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.053378	0.64402	D	0.000001	T	0.60919	0.2306	M	0.79805	2.47	0.58432	D	0.999997	D	0.65815	0.995	P	0.60345	0.873	T	0.67213	-0.5727	10	0.87932	D	0	.	11.9672	0.53042	0.1737:0.8263:0.0:0.0	.	142	P47211	GALR1_HUMAN	C	142	ENSP00000299727:R142C	ENSP00000299727:R142C	R	+	1	0	GALR1	73091916	0.998000	0.40836	1.000000	0.80357	0.380000	0.30137	3.631000	0.54280	2.044000	0.60594	0.591000	0.81541	CGC		0.657	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			54	210	0	0	0	1	0	54	210				
CECR2	27443	broad.mit.edu	37	22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000262608.8	+	8	1037	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron|CECR2_ENST00000342247.5_Missense_Mutation_p.R317H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	387					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGACCAGCCGTCCTGTAGCC	0.448																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1036-1038)cGt>cAt		cat eye syndrome chromosome region, candidate 2							53.0	61.0	58.0					22																	18003349		2143	4241	6384	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18003349G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000262608.8:c.1037G>A	22.37:g.18003349G>A	ENSP00000262608:p.Arg346His					CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400573.4_Intron|CECR2_ENST00000400585.2_Intron	p.R346H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	8	1037	+		all_epithelial(15;0.139)	387					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000262608.8	37	c.1037G>A		.	.	.	.	.	.	.	.	.	.	G	4.349	0.064200	0.08388	.	.	ENSG00000099954	ENST00000342247;ENST00000262608	T;T	0.25414	2.08;1.8	3.24	-6.48	0.01896	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	8	.	.	.	.	2.4034	0.04407	0.5132:0.1197:0.1998:0.1673	.	387;359	Q9BXF3;Q9BXF3-2	CECR2_HUMAN;.	H	317;346	ENSP00000341219:R317H;ENSP00000262608:R346H	.	R	+	2	0	CECR2	16383349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.710000	0.00387	-2.277000	0.00677	-2.302000	0.00260	CGT		0.448	CECR2-201	KNOWN	basic	protein_coding	protein_coding		NM_031413		6	42	0	0	0	1	0	6	42				
GPR83	10888	broad.mit.edu	37	11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000243673.2	-	1	418	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	83					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTGAGAAGACAATGATGAAG	0.557																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(247-249)Gtc>Ttc		G protein-coupled receptor 83							98.0	90.0	93.0					11																	94134167		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134167C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.247G>T	11.37:g.94134167C>A	ENSP00000243673:p.Val83Phe					GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			1	418	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	83					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.247G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475211	0.43942	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39997	1.05;1.05	4.84	-4.47	0.03525	.	0.508381	0.21011	N	0.081692	T	0.33673	0.0871	L	0.59436	1.845	0.44702	D	0.997697	B	0.19706	0.038	B	0.17433	0.018	T	0.02774	-1.1112	10	0.46703	T	0.11	.	11.5618	0.50780	0.0:0.4821:0.0:0.5179	.	83	Q9NYM4	GPR83_HUMAN	F	83	ENSP00000243673:V83F;ENSP00000441550:V83F	ENSP00000243673:V83F	V	-	1	0	GPR83	93773815	0.059000	0.20769	0.684000	0.30055	0.982000	0.71751	0.089000	0.15002	-1.110000	0.02992	0.455000	0.32223	GTC		0.557	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		38	135	1	0	4.62619e-21	1	5.19797e-21	38	135				
PDS5B	23047	broad.mit.edu	37	13	33332728	33332728	+	Silent	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1082					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGTACTACATACAGTTTGG	0.358																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(3244-3246)acA>acG		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							128.0	124.0	125.0					13																	33332728		1851	4088	5939	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33332728A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3246A>G	13.37:g.33332728A>G							p.T1082T	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	28	3432	+		Lung SC(185;0.0367)	1082					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.3246A>G	CCDS41878.1																																																																																				0.358	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		122	573	0	0	0	1	0	122	573				
PRDM12	59335	broad.mit.edu	37	9	133540159	133540159	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:133540159G>A	ENST00000253008.2	+	1	179	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	40					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTGTACGGCCGCTGGCGCAAC	0.677																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(118-120)cGc>cAc		PR domain containing 12							16.0	14.0	15.0					9																	133540159		2173	4237	6410	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540159G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.119G>A	9.37:g.133540159G>A	ENSP00000253008:p.Arg40His						p.R40H	NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	1	179	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	40					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.119G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905725	0.52333	.	.	ENSG00000130711	ENST00000253008	T	0.09723	2.95	4.48	3.51	0.40186	.	0.054397	0.64402	D	0.000002	T	0.06645	0.0170	L	0.29908	0.895	0.44079	D	0.996835	P	0.48640	0.913	B	0.36766	0.232	T	0.44190	-0.9344	10	0.16420	T	0.52	-16.2368	11.8827	0.52583	0.0:0.0:0.8247:0.1752	.	40	Q9H4Q4	PRD12_HUMAN	H	40	ENSP00000253008:R40H	ENSP00000253008:R40H	R	+	2	0	PRDM12	132529980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.872000	0.75536	2.026000	0.59711	0.462000	0.41574	CGC		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		3	62	0	0	0	1	0	3	62				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		8	315	0	0	0	1	0	8	315				
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(703-705)cGa>cAa		peroxidasin homolog (Drosophila)-like							96.0	90.0	92.0					8																	52384855		1837	4075	5912	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384855C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln					PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	804	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	235			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.704G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		17	365	0	0	0	1	0	17	365				
TRIM16	10626	broad.mit.edu	37	17	15532400	15532400	+	Silent	SNP	G	G	A	rs148258149	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:15532400G>A	ENST00000578237.1	-	11	2079	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	TRIM16_ENST00000577886.1_Silent_p.L192L|TRIM16_ENST00000579219.1_Missense_Mutation_p.S105F|TRIM16_ENST00000416464.2_Silent_p.L278L|TRIM16_ENST00000336708.7_Silent_p.L408L|RP11-385D13.1_ENST00000455584.2_Silent_p.L408L			O95361	TRI16_HUMAN	tripartite motif containing 16	408	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACCTGCTGGGGAGGTCCGGGT	0.602													G|||	10	0.00199681	0.0	0.0014	5008	,	,		19644	0.0		0.008	False		,,,				2504	0.001					ENST00000579219.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(313-315)tCc>tTc		tripartite motif containing 16		G		2,4402		0,2,2200	27.0	27.0	27.0		1224	-1.4	0.9	17	dbSNP_134	27	69,8485		0,69,4208	no	coding-synonymous	TRIM16	NM_006470.3		0,71,6408	AA,AG,GG		0.8066,0.0454,0.5479		408/565	15532400	71,12887	2202	4277	6479	SO:0001819	synonymous_variant	10626							g.chr17:15532400G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1224C>T	17.37:g.15532400G>A						TRIM16_ENST00000336708.7_Silent_p.L408L|TRIM16_ENST00000578237.1_Silent_p.L408L|RP11-385D13.1_ENST00000455584.2_Silent_p.L408L|TRIM16_ENST00000577886.1_Silent_p.L192L|TRIM16_ENST00000416464.2_Silent_p.L278L	p.S105F						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	3	560	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.314C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	9.322	1.058293	0.19987	4.54E-4	0.008066	ENSG00000251537	ENST00000455584	T	0.12465	2.68	4.53	-1.42	0.08913	.	.	.	.	.	T	0.10078	0.0247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18241	-1.0343	5	.	.	.	.	7.5572	0.27831	0.1608:0.3793:0.4599:0.0	.	.	.	.	F	423	ENSP00000402644:S423F	.	S	-	2	0	RP11-385D13.1	15473125	0.997000	0.39634	0.938000	0.37757	0.918000	0.54935	0.347000	0.20014	-0.128000	0.11641	-0.903000	0.02851	TCC		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		5	151	0	0	0	1	0	5	151				
DNAH17	8632	broad.mit.edu	37	17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000585328.1	-	57	9077	c.8953T>C	c.(8953-8955)Ttc>Ctc	p.F2985L	DNAH17_ENST00000389840.5_Missense_Mutation_p.F2976L|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2976	AAA 4. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGACATGAAGAAGCTGATG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8926-8928)Ttc>Ctc		dynein, axonemal, heavy chain 17							131.0	100.0	111.0					17																	76459132		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459132A>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8953T>C	17.37:g.76459132A>G	ENSP00000465516:p.Phe2985Leu					DNAH17_ENST00000585328.1_Missense_Mutation_p.F2985L|DNAH17_ENST00000586052.1_5'UTR	p.F2976L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9050	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8926T>C		.	.	.	.	.	.	.	.	.	.	A	25.9	4.688192	0.88639	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	4.91	4.91	0.64330	.	.	.	.	.	T	0.64283	0.2584	M	0.64676	1.99	0.47862	D	0.999534	.	.	.	.	.	.	T	0.67917	-0.5546	7	0.66056	D	0.02	.	14.2019	0.65710	1.0:0.0:0.0:0.0	.	.	.	.	L	2985;2976	ENSP00000374490:F2976L	ENSP00000300671:F2985L	F	-	1	0	DNAH17	73970727	1.000000	0.71417	0.940000	0.37924	0.747000	0.42532	8.838000	0.92115	1.847000	0.53656	0.454000	0.30748	TTC		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		46	133	0	0	0	1	0	46	133				
DDX31	64794	broad.mit.edu	37	9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	764						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGTGCTTTCCTCTTCTTTCT	0.532																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(2290-2292)aGg>aCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							228.0	181.0	197.0					9																	135487492		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135487492C>G	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2291G>C	9.37:g.135487492C>G	ENSP00000361232:p.Arg764Thr					DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	p.R764T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	19	2442	-			764					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.2291G>C	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719394	0.30503	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03717	4.33;3.83;4.29	5.84	-2.42	0.06542	.	0.976044	0.08418	N	0.948855	T	0.03434	0.0099	L	0.38175	1.15	0.80722	D	1	B;B	0.20671	0.047;0.04	B;B	0.15484	0.013;0.008	T	0.34601	-0.9822	10	0.34782	T	0.22	-5.4579	8.5087	0.33204	0.0:0.2988:0.1156:0.5855	.	691;764	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	T	764;691;635	ENSP00000361232:R764T;ENSP00000361226:R691T;ENSP00000387730:R635T	ENSP00000361226:R691T	R	-	2	0	DDX31	134477313	0.449000	0.25689	0.028000	0.17463	0.076000	0.17211	-0.315000	0.08081	-0.512000	0.06505	-0.768000	0.03414	AGG		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		126	611	0	0	0	1	0	126	611				
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(514-516)Gcc>Acc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						122.0	125.0	124.0					11																	66638642		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638642C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr					PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393958.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	p.A172T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	795	-		Melanoma(852;0.0525)	172			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.514G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		48	269	0	0	0	1	0	48	269				
PARK2	5071	broad.mit.edu	37	6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(19-21)ttC>ttA		parkin RBR E3 ubiquitin protein ligase							108.0	93.0	98.0					6																	162864492		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162864492G>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.21C>A	6.37:g.162864492G>T	ENSP00000355865:p.Phe7Leu					PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L	p.F7L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	2	123	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	7			Ubiquitin-like.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.21C>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682026	0.68042	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.058575	0.64402	D	0.000002	D	0.96371	0.8816	M	0.61703	1.905	0.33160	D	0.546906	D;P;D;D	0.76494	0.999;0.88;0.997;0.995	D;D;D;D	0.80764	0.994;0.946;0.958;0.958	D	0.95618	0.8678	10	0.44086	T	0.13	.	14.8348	0.70175	0.0:0.0:0.8561:0.1438	.	7;7;7;7	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	7;7;7;7;6	ENSP00000355865:F7L;ENSP00000355863:F7L;ENSP00000355862:F7L;ENSP00000355858:F7L	ENSP00000355858:F7L	F	-	3	2	PARK2	162784482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.700000	0.54786	2.805000	0.96524	0.655000	0.94253	TTC		0.498	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			19	294	1	0	1.00905e-13	1	1.12116e-13	19	294				
MTM1	4534	broad.mit.edu	37	X	149826497	149826497	+	Silent	SNP	A	A	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	419	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAATTTGCATCTGTGAGTA	0.318																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1255-1257)gcA>gcC		myotubularin 1							87.0	79.0	82.0					X																	149826497		2203	4300	6503	SO:0001819	synonymous_variant	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149826497A>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1257A>C	X.37:g.149826497A>C						MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A	p.A419A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			11	1311	+	Acute lymphoblastic leukemia(192;6.56e-05)		419			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	37	c.1257A>C	CCDS14694.1																																																																																				0.318	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		50	270	0	0	0	1	0	50	270				
CACNA1A	773	broad.mit.edu	37	19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	895					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTAGGGTCCCTCCCGGCTCA	0.771																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2680-2682)gaG>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						6.0	7.0	7.0					19																	13409765		1767	3894	5661	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409765C>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2682G>T	19.37:g.13409765C>A	ENSP00000353362:p.Glu894Asp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	p.E894D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2681	-			895					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2682G>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944677	0.18356	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	4.22	1.84	0.25277	.	4.895700	0.00541	N	0.000225	D	0.94948	0.8366	L	0.34521	1.04	0.20703	N	0.999864	B;P;D	0.58268	0.0;0.729;0.982	B;B;D	0.67548	0.001;0.21;0.952	D	0.86068	0.1536	10	0.21540	T	0.41	.	2.0266	0.03520	0.2518:0.3677:0.0:0.3805	.	895;898;894	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	894;898;895;895	ENSP00000353362:E894D	ENSP00000317661:E895D	E	-	3	2	CACNA1A	13270765	0.044000	0.20184	0.901000	0.35422	0.017000	0.09413	-0.312000	0.08113	0.768000	0.33290	-0.481000	0.04817	GAG		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		13	47	1	0	4.36969e-10	1	4.77562e-10	13	47				
GDF11	10220	broad.mit.edu	37	12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	263					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAACGCCTTTGATCCCAGTGG	0.622																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(787-789)Gat>Cat		growth differentiation factor 11							50.0	34.0	39.0					12																	56142711		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56142711G>C	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.787G>C	12.37:g.56142711G>C	ENSP00000257868:p.Asp263His						p.D263H	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			2	824	+			263					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.787G>C	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350476|4.350476	0.82132|0.82132	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.66280|.	-0.2|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.40728|.	T|.	0.16|.	-6.1484|-6.1484	14.8487|14.8487	0.70281|0.70281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263|.	O95390|.	GDF11_HUMAN|.	H|F	263|235	ENSP00000257868:D263H|.	ENSP00000257868:D263H|.	D|L	+|+	1|3	0|2	GDF11|GDF11	54428978|54428978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.450000|2.450000	0.82876|0.82876	0.555000|0.555000	0.69702|0.69702	GAT|TTG		0.622	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			20	55	0	0	0	1	0	20	55				
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	340						7	340	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97.0	96.0	96.0					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	581						8	581	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		13	160						13	160	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-	rs557843124	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1.0			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del	p.RK307del			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.650	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		7	424						7	424	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1029					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATTTGGTGAAGAGGAGGAGGAGG	0.355																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(3073-3075)del		natural killer-tumor recognition sequence																																				SO:0001651	inframe_deletion	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680269_42680271delGAG		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3073_3075delGAG	3.37:g.42680278_42680280delGAG	ENSP00000232978:p.Glu1029del					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.E1029del	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3261_3263	+			1029						In_Frame_Del	DEL	ENST00000232978.8	37	c.3073_3075delGAG	CCDS2702.1																																																																																				0.355	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	613						7	613	---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	55021718	55021719	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:55021718_55021719delCT	ENST00000474759.1	+	31	2676_2677	c.2628_2629delCT	c.(2626-2631)gactttfs	p.F878fs	CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.F784fs|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	878						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGACTGGAGACTTTTTTGGTGA	0.436																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2626-2631)gattfs		calcium channel, voltage-dependent, alpha 2/delta subunit 3																																				SO:0001589	frameshift_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55021718_55021719delCT	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2628_2629delCT	3.37:g.55021718_55021719delCT	ENSP00000419101:p.Phe878fs					CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.DF782fs|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.DF876fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.DF876fs	p.DF876fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	31	2676_2677	+			876					B2RPL6|Q9NY16|Q9NY18	Frame_Shift_Del	DEL	ENST00000474759.1	37	c.2628_2629delCT	CCDS54598.1																																																																																				0.436	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			26	156						26	156	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aaafs	p.K92fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254																																						ENST00000351747.2																			2	Deletion - Frameshift(2)	p.G93fs*7(2)	lung(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(274-276)aafs		dynein, axonemal, heavy chain 12			,	40,140,4046		0,0,40,1,138,1934	20.0	22.0	21.0		,	4.3	1.0	3	dbSNP_126	21	45,231,7912		0,0,45,1,229,3819	no	codingComplex,codingComplex	DNAH12	NM_198564.3,NM_178504.4	,	0,0,85,2,367,5753	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3708,4.2593,3.6733	,	,	57509313	85,371,11958	2183	4274	6457	SO:0001589	frameshift_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57509313delT	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.276delA	3.37:g.57509313delT	ENSP00000295937:p.Lys92fs					DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs	p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			4	456	-			92			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37	c.276delA																																																																																					0.254	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		9	133						9	133	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			8	143						8	143	---	---	---	---
ATR	545	broad.mit.edu	37	3	142242967	142243004	+	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	rs56026468	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENST00000350721.4	-	22	4104_4141	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	c.(3982-4020)gtagaacctattatctcacagttggtgacagtgcttttgfs	p.VEPIISQLVTVLL1328fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1328					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGCAACCTTTCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTACTGTTTCACT	0.382								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3982-4020)gfs	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related																																				SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	3.37:g.142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENSP00000343741:p.Val1328fs					ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	p.VEPIISQLVTVLL1328fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			22	4104_4141	-			1328					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	CCDS3124.1																																																																																				0.382	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	453						12	453	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		9	49						9	49	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	392						7	392	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			10	333						10	333	---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81791254	81791254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:81791254delA	ENST00000358105.3	+	4	490	c.441delA	c.(439-441)ggafs	p.G147fs	C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACTTTACTGGAAAAAAAAGAC	0.373																																						ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(439-441)ggfs		chromosome 4 open reading frame 22																																				SO:0001589	frameshift_variant	255119							g.chr4:81791254delA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.441delA	4.37:g.81791254delA	ENSP00000350818:p.Gly147fs					C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs	p.G147fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			4	490	+			147					E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Del	DEL	ENST00000358105.3	37	c.441delA	CCDS3587.1																																																																																				0.373	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		7	565						7	565	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		9	427						9	427	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2017					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.C2022Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.C2022Y(1)	ovary(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6046-6078)acc>ac		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	5.37:g.32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENSP00000402033:p.Pro2017_Gly2026del					PDZD2_ENST00000282493.3_In_Frame_Del_p.TPKSPKCRAEG2016del	p.TPKSPKCRAEG2016del			O15018	PDZD2_HUMAN			20	6436_6465	+			2016					Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCDS34137.1																																																																																				0.635	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			37	1176						37	1176	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		7	517						7	517	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	359						7	359	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153755873	153755873	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:153755873delT	ENST00000297107.6	+	5	742	c.605delT	c.(604-606)cttfs	p.L202fs	GALNT10_ENST00000425427.2_Frame_Shift_Del_p.L202fs|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	202	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(604-606)ctfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							137.0	134.0	135.0					5																	153755873		2203	4300	6503	SO:0001589	frameshift_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153755873delT	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.605delT	5.37:g.153755873delT	ENSP00000297107:p.Leu202fs					GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Frame_Shift_Del_p.L202fs|SAP30L-AS1_ENST00000519727.1_RNA	p.L202fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	742	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	202			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Del	DEL	ENST00000297107.6	37	c.605delT	CCDS4325.1																																																																																				0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		8	1010						8	1010	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109802729	109802729	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:109802729delT	ENST00000230122.3	-	2	668	c.501delA	c.(499-501)aaafs	p.K167fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	167					hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATGTATTGACTTTTTTTGGTC	0.418																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(499-501)aafs		zinc finger and BTB domain containing 24							159.0	168.0	165.0					6																	109802729		2203	4300	6503	SO:0001589	frameshift_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802729delT	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.501delA	6.37:g.109802729delT	ENSP00000230122:p.Lys167fs						p.K167fs	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	668	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	167					Q17RC6|Q5TED5|Q8N455	Frame_Shift_Del	DEL	ENST00000230122.3	37	c.501delA	CCDS34509.1																																																																																				0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	1461						7	1461	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2233-2238)agt>ag		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191073_131191075delCTG	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del					EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525193.1_Intron	p.SS745del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2416_2418	-	Breast(56;0.0639)		745					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.2235_2237delCAG	CCDS5141.1																																																																																				0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			7	513						7	513	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125.0	136.0	132.0					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540delT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>-	6.37:g.152539540delT		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37		CCDS5236.2																																																																																				0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	10	1318						10	1318	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160912373	160912373	+	RNA	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:160912373delT	ENST00000335388.5	-	0	508					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CCTTCTCTTATGGTAAAGAAC	0.448																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														0							g.chr6:160912373delT	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160912373delT								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	508	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	DEL	ENST00000335388.5	37																																																																																						0.448	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		103	570						103	570	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			14	350						14	350	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			12	76						12	76	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		7	87						7	87	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74149837	74149840	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:74149837_74149840delAAGA	ENST00000324896.4	+	17	1787_1790	c.1398_1401delAAGA	c.(1396-1401)ttaagafs	p.LR466fs	GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	466					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCACTAAATTAAGAAAGATGGTGG	0.275																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1396-1401)ttfs		general transcription factor IIi			,,,,	4,1578		1,2,788					,,,,	4.4	0.1			2	20,2954		3,14,1470	no	frameshift,frameshift,frameshift,frameshift,frameshift	GTF2I	NM_033001.2,NM_033000.2,NM_032999.2,NM_001518.3,NM_001163636.1	,,,,	4,16,2258	A1A1,A1R,RR		0.6725,0.2528,0.5268	,,,,	,,,,		24,4532				SO:0001589	frameshift_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74149837_74149840delAAGA	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1398_1401delAAGA	7.37:g.74149841_74149844delAAGA	ENSP00000322542:p.Leu466fs					GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs	p.LR466fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			17	1787_1790	+			466					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	ENST00000324896.4	37	c.1398_1401delAAGA	CCDS5573.1																																																																																				0.275	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		7	32						7	32	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151845337	151845338	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:151845337_151845338insA	ENST00000262189.6	-	52	13892_13893	c.13674_13675insT	c.(13672-13677)attggtfs	p.G4559fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G4616fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4559	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGCAGCTGACCAATTGTGTGGA	0.535																																						ENST00000355193.2																			0											c.(13843-13848)atgtcafs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151845337_151845338insA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13675dupT	7.37:g.151845339_151845339dupA	ENSP00000262189:p.Gly4559fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.MS4558fs	p.MS4615fs							53	14063_14064	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.13845_13846insT	CCDS5931.1																																																																																				0.535	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			63	339						63	339	---	---	---	---
NEFL	4747	broad.mit.edu	37	8	24811843	24811843	+	RNA	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:24811843delA	ENST00000221169.5	-	0	1639				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAATAAAACAAAAAAAAAAT	0.328																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide				13,77,3392		0,0,13,0,77,1651	83.0	77.0	79.0			-0.0	0.0	8		84	21,171,7606		1,0,19,1,169,3709	no	intron	NEFL	NM_006158.3		1,0,32,1,246,5360	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4622,2.5847,2.5			24811843	34,248,10998	1807	4067	5874			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811843delA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811843delA										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1639	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	DEL	ENST00000221169.5	37																																																																																						0.328	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		15	273						15	273	---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30511012	30511014	+	In_Frame_Del	DEL	GAT	GAT	-	rs572162637|rs113662547		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:30511012_30511014delGAT	ENST00000355904.4	-	2	384_386	c.102_104delATC	c.(100-105)tcatcg>tcg	p.34_35SS>S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	34	Poly-Ser.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(100-105)tcg>tc		general transcription factor IIE, polypeptide 2, beta 34kDa				132,4130		66,0,2065						-1.2	0.3			151	153,8101		76,1,4050	no	coding	GTF2E2	NM_002095.4		142,1,6115	A1A1,A1R,RR		1.8536,3.0971,2.2771				285,12231				SO:0001651	inframe_deletion	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511012_30511014delGAT	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.102_104delATC	8.37:g.30511021_30511023delGAT	ENSP00000348168:p.Ser36del						p.SS34del	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	384_386	-			34			Poly-Ser.		D3DSV2|Q9H2B9	In_Frame_Del	DEL	ENST00000355904.4	37	c.102_104delATC	CCDS6078.1																																																																																				0.384	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		8	797						8	797	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203.0	182.0	189.0					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	912						8	912	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121240956	121240956	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:121240956delT	ENST00000297848.3	+	18	2415	c.2145delT	c.(2143-2145)agtfs	p.S715fs	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.S620fs|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.S715fs|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAGTTGACAGTTTTTGGACAG	0.333																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2143-2145)agfs		collagen, type XIV, alpha 1							149.0	142.0	145.0					8																	121240956		2203	4300	6503	SO:0001589	frameshift_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121240956delT		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2145delT	8.37:g.121240956delT	ENSP00000297848:p.Ser715fs					COL14A1_ENST00000309791.4_Frame_Shift_Del_p.S715fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.S620fs|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	p.S715fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		18	2415	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		715						Frame_Shift_Del	DEL	ENST00000297848.3	37	c.2145delT	CCDS34938.1																																																																																				0.333	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		7	590						7	590	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														0							g.chr9:40715923_40715924delAA																													9.37:g.40715923_40715924delAA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	262_263	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			10	110						10	110	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95599088	95599089	+	RNA	DEL	CA	CA	-	rs544950203|rs372688534	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:95599088_95599089delCA	ENST00000473204.1	+	0	1169_1170							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TTCACGGGCGCACACACACACA	0.421																																						ENST00000473204.1																			0																																																			0							g.chr9:95599088_95599089delCA	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599098_95599099delCA														0	1169_1170	+								A8K853|Q17RD3	RNA	DEL	ENST00000473204.1	37																																																																																						0.421	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		9	298						9	298	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135277201	135277202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135277201_135277202insT	ENST00000334270.2	-	2	1046_1047	c.1007_1008insA	c.(1006-1008)aagfs	p.K336fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	336	Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.51																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1006-1008)aaafs		transcription termination factor, RNA polymerase I																																				SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277201_135277202insT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1008dupA	9.37:g.135277209_135277209dupT	ENSP00000333920:p.Lys336fs						p.K336fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1046_1047	-		Myeloproliferative disorder(178;0.204)	336			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	ENST00000334270.2	37	c.1007_1008insA	CCDS6948.1																																																																																				0.510	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		7	1113						7	1113	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6075delA	c.(6073-6075)aaa>aa	p.K2025fs	JMJD1C_ENST00000542921.1_Splice_Site_p.K1843fs|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788fs|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C							153.0	141.0	145.0					10																	64952699		1873	4104	5977	SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952699delT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1A>-	10.37:g.64952699delT						JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice	p.K2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	DEL	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Del	8	642						8	642	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del|NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del|NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	196	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(571-576)aag>a		neuron navigator 2			,,	52,4210		4,44,2083					,,	5.9	1.0			68	58,8184		2,54,4065	no	coding,coding,coding	NAV2	NM_182964.5,NM_145117.4,NM_001111018.1	,,	6,98,6148	A1A1,A1R,RR		0.7037,1.2201,0.8797	,,	,,		110,12394				SO:0001651	inframe_deletion	89797					nucleus	ATP binding|helicase activity	g.chr11:19901475_19901477delAGC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.572_574delAGC	11.37:g.19901484_19901486delAGC	ENSP00000379396:p.Gln196del					NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR	p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	933_935	+			191			CH.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	In_Frame_Del	DEL	ENST00000396087.3	37	c.572_574delAGC	CCDS58126.1																																																																																				0.611	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	583						9	583	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T	rs370698632		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(310-312)tttfs	p.F104fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.51																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(307-312)cattttfs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210950_59210951insT	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.317dupT	11.37:g.59210958_59210958dupT	ENSP00000303096:p.Phe104fs						p.HF103fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	334_335	+			103					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.309_310insT	CCDS31561.1																																																																																				0.510	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		7	1039						7	1039	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63997567	63997567	+	5'Flank	DEL	A	A	-	rs10708923|rs63552063	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:63997567delA	ENST00000321685.3	+	0	0				RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|DNAJC4_ENST00000355040.4_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						GTGACTTGGGAAAAAAAAAAA	0.498													|||unknown(HR)	2125	0.424321	0.4319	0.3833	5008	,	,		15038	0.4623		0.3926	False		,,,				2504	0.4366					ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997567delA	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997567delA	Exception_encountered													0	99	-								O14716	RNA	DEL	ENST00000321685.3	37		CCDS41666.1																																																																																				0.498	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			23	54						23	54	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		8	195						8	195	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403730	89403731	+	RNA	INS	-	-	AAAC	rs377075488|rs371511332	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aaagtgaaTCAaaacaaacaaa	0.347														311	0.0621006	0.1551	0.0187	5008	,	,		18533	0.0317		0.0099	False		,,,				2504	0.0521					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403730_89403731insAAAC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403735_89403738dupAAAC										Q9HBA9	FOH1B_HUMAN			0	994	+									RNA	INS	ENST00000532352.1	37																																																																																						0.347	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		18	75						18	75	---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128354796	128354799	+	Frame_Shift_Del	DEL	TGTC	TGTC	-	rs375110149		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:128354796_128354799delTGTC	ENST00000319397.6	-	5	958_961	c.649_652delGACA	c.(649-654)gacaccfs	p.DT217fs	ETS1_ENST00000526145.2_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Frame_Shift_Del_p.DT261fs|ETS1_ENST00000531611.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000345075.4_Frame_Shift_Del_p.DT217fs	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	217	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TTCTGCAAGGTGTCTGTCTGGAGA	0.505																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(781-786)ccfs		v-ets avian erythroblastosis virus E26 oncogene homolog 1																																				SO:0001589	frameshift_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354796_128354799delTGTC		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.649_652delGACA	11.37:g.128354800_128354803delTGTC	ENSP00000324578:p.Asp217fs					ETS1_ENST00000319397.5_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000531611.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000345075.4_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000526145.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000535549.1_Intron	p.DT261fs	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	7	849_852	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	217					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Frame_Shift_Del	DEL	ENST00000319397.6	37	c.781_784delGACA	CCDS8475.1																																																																																				0.505	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		37	511						37	511	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	853						8	853	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							cgctattgctccccacccatc	0.537																																						ENST00000451298.1																			0																																																			0							g.chr13:52796688delC																													13.37:g.52796688delC						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.537	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			13	125						13	125	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444749	71444749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:71444749delA	ENST00000304743.2	+	6	2141	c.1695delA	c.(1693-1695)ggafs	p.G565fs	PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACGCACAGGAAAAAAACGGG	0.473																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1693-1695)ggfs		pecanex homolog (Drosophila)							102.0	102.0	102.0					14																	71444749		2203	4300	6503	SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71444749delA	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1695delA	14.37:g.71444749delA	ENSP00000304192:p.Gly565fs					PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs	p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2141	+			565					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.1695delA	CCDS9806.1																																																																																				0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	797						7	797	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000555523.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		8	1050						8	1050	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926652	106926653	+	RNA	DEL	TC	TC	-	rs142878466|rs372523377		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:106926652_106926653delTC	ENST00000434710.1	-	0	71_72									immunoglobulin heavy variable 3-43																		CATGGTGCGTTCTCTGTGTTCA	0.495																																						ENST00000434710.1																			0																	1556,2152		51,1454,349						-3.6	0.2		dbSNP_134	145	2136,5764		153,1830,1967	no	intergenic				204,3284,2316	A1A1,A1R,RR		27.038,41.9633,31.8057				3692,7916						0							g.chr14:106926652_106926653delTC	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926654_106926655delTC														0	71_72	-									RNA	DEL	ENST00000434710.1	37																																																																																						0.495	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		8	1033						8	1033	---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)cacdel	p.H501del	SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTTCCACGGACACCACCACCACC	0.586																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1492-1494)del		serine peptidase inhibitor, Kunitz type 1																																				SO:0001651	inframe_deletion	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41149075_41149077delCAC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1492_1494delCAC	15.37:g.41149084_41149086delCAC	ENSP00000342098:p.His501del					SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del|SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del	p.H501del			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	11	1726_1728	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	501					Q7Z7D2	In_Frame_Del	DEL	ENST00000344051.4	37	c.1492_1494delCAC	CCDS10067.1																																																																																				0.586	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		7	1313						7	1313	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-	rs562825970		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:81592162_81592164delCCT	ENST00000302987.4	+	13	2495_2497	c.2495_2497delCCT	c.(2494-2499)gcctcc>gcc	p.S838del	IL16_ENST00000394660.2_In_Frame_Del_p.S838del|IL16_ENST00000394652.2_In_Frame_Del_p.S137del|IL16_ENST00000560230.1_3'UTR			Q14005	IL16_HUMAN	interleukin 16	838					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586																																						ENST00000394660.2																			2	Deletion - In frame(2)	p.S792delS(1)|p.S838delS(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2494-2499)gcc>g		interleukin 16			,,	50,2,4208		3,0,44,0,2,2081					,,	3.2	0.1			40	99,6,8147		7,0,85,0,6,4028	no	codingComplex,codingComplex,codingComplex	IL16	NM_172217.3,NM_004513.5,NM_001172128.1	,,	10,0,129,0,8,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2724,1.2207,1.2548	,,	,,		149,8,12355				SO:0001651	inframe_deletion	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592162_81592164delCCT	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2495_2497delCCT	15.37:g.81592171_81592173delCCT	ENSP00000302935:p.Ser838del					IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del	p.AS832del	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2855_2857	+			832					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	In_Frame_Del	DEL	ENST00000302987.4	37	c.2495_2497delCCT	CCDS42069.1																																																																																				0.586	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	337						7	337	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974509	93974510	+	lincRNA	DEL	TC	TC	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:93974509_93974510delTC	ENST00000543286.1	+	0	545																											TTGGCTGGGTTCtttttttttt	0.431																																						ENST00000543286.1																			0																																																			0							g.chr15:93974509_93974510delTC																													15.37:g.93974509_93974510delTC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.431	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			7	268						7	268	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			12	245						12	245	---	---	---	---
E4F1	1877	broad.mit.edu	37	16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	rs137969975|rs552965184|rs113270919	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693																																						ENST00000301727.4																			0				ovary(1)	1						c.(1381-1401)agg>ag		E4F transcription factor 1																																				SO:0001651	inframe_deletion	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1383_1400delGCCGTTCGCCTGCGCGCA	16.37:g.2284179_2284196delGCCGTTCGCCTGCGCGCA	ENSP00000301727:p.Pro462_Gln467del					E4F1_ENST00000564139.1_In_Frame_Del_p.RPFACAQ461del|E4F1_ENST00000565090.1_Intron	p.RPFACAQ461del	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			10	1431_1448	+			461			Interaction with BMI1.|Mediates interaction with CDKN2A.		A8K2R4|O00146	In_Frame_Del	DEL	ENST00000301727.4	37	c.1383_1400delGCCGTTCGCCTGCGCGCA	CCDS32370.1																																																																																				0.693	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		16	119						16	119	---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4608074	4608075	+	5'Flank	DEL	GT	GT	-	rs367809718		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:4608074_4608075delGT	ENST00000574876.1	-	0	0				PELP1_ENST00000572293.1_5'Flank|RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000436683.2_5'Flank|PELP1_ENST00000301396.4_5'Flank|PELP1_ENST00000570823.1_5'Flank|PELP1_ENST00000269230.7_5'Flank			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1						cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCAGTAACGTGTGTGTGTGT	0.515																																						ENST00000497885.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:4608074_4608075delGT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8			17.37:g.4608084_4608085delGT	Exception_encountered							NR_103482.1						0	141	+								O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	RNA	DEL	ENST00000574876.1	37		CCDS58503.1																																																																																				0.515	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		8	82						8	82	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		8	258						8	258	---	---	---	---
RP11-156P1.3	0	broad.mit.edu	37	17	45128638	45128638	+	RNA	DEL	G	G	-	rs374777142|rs552285972	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:45128638delG	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							Gtttttttttgttttgttttt	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128638delG																													17.37:g.45128638delG														0	418	-									RNA	DEL	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	354						8	354	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			8	80						8	80	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42818632	42818632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:42818632delT	ENST00000301204.3	+	3	266	c.225delT	c.(223-225)tatfs	p.Y75fs	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000598766.1_Frame_Shift_Del_p.Y85fs	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	75					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTCCTCTATTTTGATGACC	0.602																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(253-255)tafs		transmembrane protein 145							157.0	149.0	152.0					19																	42818632		2203	4300	6503	SO:0001589	frameshift_variant	284339					integral to membrane		g.chr19:42818632delT	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.225delT	19.37:g.42818632delT	ENSP00000301204:p.Tyr75fs					TMEM145_ENST00000301204.3_Frame_Shift_Del_p.Y75fs|TMEM145_ENST00000601020.1_3'UTR	p.Y85fs			Q8NBT3	TM145_HUMAN			3	255	+		Prostate(69;0.00682)	75						Frame_Shift_Del	DEL	ENST00000301204.3	37	c.255delT	CCDS12603.1																																																																																				0.602	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		7	1155						7	1155	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		8	180						8	180	---	---	---	---
RASSF2	9770	broad.mit.edu	37	20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-	rs188515817|rs375756047|rs372791134		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	181	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(541-561)ttfs		Ras association (RalGDS/AF-6) domain family member 2																																				SO:0001589	frameshift_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.542_560delCCGTGTTCACACCAGCCTA	20.37:g.4770321_4770339delTAGGCTGGTGTGAACACGG	ENSP00000368710:p.Ser181fs					RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			8	737_755	-			181			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Frame_Shift_Del	DEL	ENST00000379400.3	37	c.542_560delCCGTGTTCACACCAGCCTA	CCDS13083.1																																																																																				0.539	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		17	240						17	240	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	535						9	535	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22664078	22664079	+	RNA	DEL	TT	TT	-	rs114253646|rs545024475	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:22664078_22664079delTT	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		TGTGTGTGTGTTTTTATCTTGC	0.381																																						ENST00000426066.1																			0																																																			0							g.chr22:22664078_22664079delTT			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664080_22664081delTT								NR_027293.1						0	623	+									RNA	DEL	ENST00000426066.1	37																																																																																						0.381	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			9	472						9	472	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(484-486)ttfs		neurofibromin 2 (merlin)							143.0	145.0	144.0					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		8	976						8	976	---	---	---	---
ISX-AS1	101926957	broad.mit.edu	37	22	35411562	35411563	+	RNA	DEL	AA	AA	-	rs140564222|rs60712836	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:35411562_35411563delAA	ENST00000448318.4	-	0	836																											CCCAAGGTGGAAAAAAAAAAAA	0.51														2453	0.489816	0.5144	0.6311	5008	,	,		12966	0.3323		0.6292	False		,,,				2504	0.3753					ENST00000448318.4																			0																																																			0							g.chr22:35411562_35411563delAA																													22.37:g.35411572_35411573delAA														0	836	-									RNA	DEL	ENST00000448318.4	37																																																																																						0.510	RP1-272J12.1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000467276.1			4	3						4	3	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:42605990_42605992delCTG	ENST00000359486.3	-	1	5456_5458	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1774					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5320-5322)del		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605990_42605992delCTG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5320_5322delCAG	22.37:g.42605999_42606001delCTG	ENSP00000352463:p.Gln1774del					TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del	p.Q1774del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5456_5458	-			1774					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.5320_5322delCAG	CCDS14033.1																																																																																				0.601	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	598						8	598	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	135						9	135	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49173752	49173752	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:49173752delA	ENST00000407599.3	+	4	406	c.313delA	c.(313-315)aaafs	p.K105fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	105										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AGAGGAGGTGAAAAGGCCTGA	0.468																																						ENST00000407599.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(313-315)aafs		G antigen 10							158.0	160.0	159.0					X																	49173752		2203	4300	6503	SO:0001589	frameshift_variant	643832							g.chrX:49173752delA			Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.313delA	X.37:g.49173752delA	ENSP00000385415:p.Lys105fs						p.K105fs	NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN			4	406	+	Ovarian(276;0.236)		105						Frame_Shift_Del	DEL	ENST00000407599.3	37	c.313delA	CCDS43938.1																																																																																				0.468	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		7	1395						7	1395	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:107430450delT	ENST00000372216.4	-	23	1930	c.1830delA	c.(1828-1830)aaafs	p.K610fs	COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000394872.2_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1828-1830)aafs		collagen, type IV, alpha 6							127.0	118.0	121.0					X																	107430450		2203	4300	6503	SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107430450delT	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1830delA	X.37:g.107430450delT	ENSP00000361290:p.Lys610fs					COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs	p.K610fs			Q14031	CO4A6_HUMAN			23	2061	-			610			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	37	c.1830delA	CCDS14541.1																																																																																				0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			8	1176						8	1176	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117742086	117742096	+	Frame_Shift_Del	DEL	TCTAAGATCAT	TCTAAGATCAT	-			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:117742086_117742096delTCTAAGATCAT	ENST00000276202.7	+	25	2796_2806	c.2733_2743delTCTAAGATCAT	c.(2731-2745)tatctaagatcattcfs	p.LRSF912fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.LRSF912fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	912					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGATAGTTATCTAAGATCATTCATAAAGGT	0.313																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2731-2745)tatcfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742086_117742096delTCTAAGATCAT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2733_2743delTCTAAGATCAT	X.37:g.117742086_117742096delTCTAAGATCAT	ENSP00000276202:p.Leu912fs					DOCK11_ENST00000276202.7_Frame_Shift_Del_p.YLRSF911fs	p.YLRSF911fs			Q5JSL3	DOC11_HUMAN			25	2807_2817	+			911					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	c.2733_2743delTCTAAGATCAT	CCDS35373.1																																																																																				0.313	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		82	665						82	665	---	---	---	---
