#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
KAL1	3730	broad.mit.edu	37	X	8536357	8536357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chrX:8536357G>A	ENST00000262648.3	-	8	1272	c.1123C>T	c.(1123-1125)Caa>Taa	p.Q375*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	375	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTTATGGCTTGCAATTCCACA	0.438																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1123-1125)Caa>Taa		Kallmann syndrome 1 sequence							172.0	106.0	128.0					X																	8536357		2203	4300	6503	SO:0001587	stop_gained	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8536357G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1123C>T	X.37:g.8536357G>A	ENSP00000262648:p.Gln375*						p.Q375*	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			8	1272	-			375			Fibronectin type-III 2.		B2RPF8	Nonsense_Mutation	SNP	ENST00000262648.3	37	c.1123C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611318	0.87258	.	.	ENSG00000011201	ENST00000262648	.	.	.	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-21.7786	14.6012	0.68443	0.0:0.0:1.0:0.0	.	.	.	.	X	375	.	ENSP00000262648:Q375X	Q	-	1	0	KAL1	8496357	1.000000	0.71417	0.451000	0.26982	0.067000	0.16453	7.422000	0.80217	1.608000	0.50180	0.594000	0.82650	CAA		0.438	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		13	19	0	0	0	1	0	13	19				
ESPNP	284729	broad.mit.edu	37	1	17017717	17017717	+	RNA	SNP	C	C	T	rs12561804	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:17017717C>T	ENST00000492551.1	-	0	2010					NR_026567.1				espin pseudogene																		GCTCACCTCTCTTCTTCCAGC	0.622																																						ENST00000492551.1																			0																																																			0							g.chr1:17017717C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017717C>T								NR_026567.1						0	2010	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	24	0	0	0	1	0	5	24				
PRC1	9055	broad.mit.edu	37	15	91513730	91513730	+	Silent	SNP	G	G	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr15:91513730G>T	ENST00000361188.5	-	12	2687	c.1476C>A	c.(1474-1476)acC>acA	p.T492T	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.T492T|PRC1_ENST00000361919.3_Silent_p.T492T|PRC1_ENST00000442656.2_Silent_p.T451T					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CATTGGACATGGTGGTAGTGT	0.502																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1474-1476)acC>acA		protein regulator of cytokinesis 1							212.0	155.0	174.0					15																	91513730		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91513730G>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1476C>A	15.37:g.91513730G>T						PRC1_ENST00000442656.2_Silent_p.T451T|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.T492T|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.T492T	p.T492T			O43663	PRC1_HUMAN			12	2687	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		492			Unstructured, Arg/Lys rich.			Silent	SNP	ENST00000361188.5	37	c.1476C>A	CCDS45352.1																																																																																				0.502	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		3	53	1	0	0.150653	1	0.150653	3	53				
ZNF423	23090	broad.mit.edu	37	16	49671795	49671795	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr16:49671795G>A	ENST00000561648.1	-	4	1321	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	ZNF423_ENST00000535559.1_Missense_Mutation_p.A306V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A363V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A306V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A363V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A423V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A363V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	423					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCAGCACGGCCAGGCTGTT	0.607																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1267-1269)gCc>gTc		zinc finger protein 423							92.0	81.0	85.0					16																	49671795		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671795G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1268C>T	16.37:g.49671795G>A	ENSP00000455426:p.Ala423Val					ZNF423_ENST00000562871.1_Missense_Mutation_p.A363V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A363V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A423V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A363V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A306V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A306V	p.A423V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1321	-		all_cancers(37;0.0155)	423					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1268C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591664	0.66219	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.28255	1.62;1.62	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.46947	1.48	0.54753	D	0.999985	D	0.59767	0.986	P	0.62014	0.897	T	0.30149	-0.9988	9	.	.	.	-20.2911	18.4335	0.90634	0.0:0.0:1.0:0.0	.	423	Q2M1K9	ZN423_HUMAN	V	423;306	ENSP00000262383:A423V;ENSP00000442321:A306V	.	A	-	2	0	ZNF423	48229296	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.863000	0.87023	2.346000	0.79739	0.561000	0.74099	GCC		0.607	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	76	0	0	0	1	0	4	76				
TGOLN2	10618	broad.mit.edu	37	2	85554616	85554616	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:85554616G>C	ENST00000409232.3	-	2	300	c.239C>G	c.(238-240)aCc>aGc	p.T80S	TGOLN2_ENST00000444342.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000377386.3_Missense_Mutation_p.T80S|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T80S			O43493	TGON2_HUMAN	trans-golgi network protein 2	80	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTGTTGGGGGTGTCTTCTGG	0.597																																						ENST00000377386.3																			0											c.(238-240)aCc>aGc		trans-golgi network protein 2							216.0	215.0	215.0					2																	85554616		1937	4148	6085	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554616G>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.239C>G	2.37:g.85554616G>C	ENSP00000386443:p.Thr80Ser					TGOLN2_ENST00000409232.3_Missense_Mutation_p.T80S|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T80S|TGOLN2_ENST00000398263.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000444342.2_Missense_Mutation_p.T80S|TGOLN2_ENST00000282120.2_Intron	p.T80S			O43493	TGON2_HUMAN			2	701	-			80			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.239C>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.387884	0.00014	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.09445	3.07;2.98;3.07;3.07;3.08	2.35	-4.69	0.03299	.	.	.	.	.	T	0.01940	0.0061	N	0.00268	-1.735	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39292	-0.9621	9	0.11485	T	0.65	.	7.7138	0.28692	0.0:0.1391:0.3327:0.5282	.	80;80;80;80	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	S	80	ENSP00000366603:T80S;ENSP00000381312:T80S;ENSP00000386443:T80S;ENSP00000387035:T80S;ENSP00000391190:T80S	ENSP00000366603:T80S	T	-	2	0	TGOLN2	85408127	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.198000	0.00561	-2.955000	0.00292	-1.392000	0.01152	ACC		0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	414	0	0	0	1	0	6	414				
FAM71B	153745	broad.mit.edu	37	5	156592716	156592716	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:156592716C>A	ENST00000302938.4	-	1	559	c.464G>T	c.(463-465)tGt>tTt	p.C155F		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	155						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGAGGGACACAACTGCAG	0.478																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(463-465)tGt>tTt		family with sequence similarity 71, member B							118.0	122.0	120.0					5																	156592716		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592716C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.464G>T	5.37:g.156592716C>A	ENSP00000305596:p.Cys155Phe						p.C155F	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	559	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	155					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.464G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202973	0.58234	.	.	ENSG00000170613	ENST00000302938	T	0.19250	2.16	4.56	4.56	0.56223	.	0.242105	0.37136	N	0.002236	T	0.47746	0.1462	M	0.82056	2.57	0.43798	D	0.996347	D	0.76494	0.999	D	0.85130	0.997	T	0.51236	-0.8731	10	0.66056	D	0.02	-9.0875	13.5619	0.61795	0.0:1.0:0.0:0.0	.	155	Q8TC56	FA71B_HUMAN	F	155	ENSP00000305596:C155F	ENSP00000305596:C155F	C	-	2	0	FAM71B	156525294	0.996000	0.38824	0.998000	0.56505	0.814000	0.46013	2.520000	0.45554	2.469000	0.83416	0.655000	0.94253	TGT		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		38	63	1	0	1.60099e-16	1	1.8452e-16	38	63				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	73	0	0	0	1	0	4	73				
ANK2	287	broad.mit.edu	37	4	114251469	114251469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr4:114251469C>T	ENST00000357077.4	+	27	3021	c.2968C>T	c.(2968-2970)Cga>Tga	p.R990*	ANK2_ENST00000506722.1_Nonsense_Mutation_p.R981*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R199*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R990*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R990*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	990	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATGGGCTCCGAATCATTAT	0.473																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2968-2970)Cga>Tga		ankyrin 2, neuronal							77.0	71.0	73.0					4																	114251469		2203	4300	6503	SO:0001587	stop_gained	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114251469C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2968C>T	4.37:g.114251469C>T	ENSP00000349588:p.Arg990*					ANK2_ENST00000506722.1_Nonsense_Mutation_p.R981*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R199*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R990*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R990*	p.R990*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	27	3021	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	990			Interaction with SPTBN1.|ZU5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	c.2968C>T	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.705537|8.705537	0.98922|0.98922	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|.	.|.	.|.	5.93|5.93	3.98|3.98	0.46160|0.46160	.|.	.|0.000000	.|0.49916	.|D	.|0.000133	T|.	0.42040|.	0.1185|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30937|.	-0.9961|.	4|.	.|0.02654	.|T	.|1	.|.	15.6511|15.6511	0.77095|0.77095	0.3331:0.6669:0.0:0.0|0.3331:0.6669:0.0:0.0	.|.	.|.	.|.	.|.	L|X	35|969;936;981;69;1005;990;990;990;981;199	.|.	.|ENSP00000264366:R990X	P|R	+|+	2|1	0|2	ANK2|ANK2	114470918|114470918	0.750000|0.750000	0.28316|0.28316	0.990000|0.990000	0.47175|0.47175	0.948000|0.948000	0.59901|0.59901	1.476000|1.476000	0.35420|0.35420	1.444000|1.444000	0.47605|0.47605	0.563000|0.563000	0.77884|0.77884	CCG|CGA		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	31	0	0	0	1	0	10	31				
ZFHX3	463	broad.mit.edu	37	16	72984599	72984599	+	Silent	SNP	G	G	C	rs367709501		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr16:72984599G>C	ENST00000268489.5	-	3	3657	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	ZFHX3_ENST00000397992.5_Silent_p.L81L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	995					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTTGGCCTTGAGCTGGGTGT	0.612																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2983-2985)ctC>ctG		zinc finger homeobox 3		G	,	0,4396		0,0,2198	158.0	130.0	140.0		243,2985	3.2	1.0	16		140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,1,6497	CC,CG,GG		0.0116,0.0,0.0077	,	81/2790,995/3704	72984599	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984599G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2985C>G	16.37:g.72984599G>C						ZFHX3_ENST00000397992.5_Silent_p.L81L	p.L995L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			3	3657	-		Ovarian(137;0.13)	995					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2985C>G	CCDS10908.1																																																																																				0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	13	0	0	0	1	0	14	13				
HAUS6	54801	broad.mit.edu	37	9	19063090	19063090	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr9:19063090A>T	ENST00000380502.3	-	14	2012	c.1545T>A	c.(1543-1545)aaT>aaA	p.N515K	SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Missense_Mutation_p.N379K	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	515					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACTCTCTGTATTCTTTGCAA	0.358																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1543-1545)aaT>aaA		HAUS augmin-like complex, subunit 6							134.0	124.0	127.0					9																	19063090		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19063090A>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1545T>A	9.37:g.19063090A>T	ENSP00000369871:p.Asn515Lys					HAUS6_ENST00000380496.1_Missense_Mutation_p.N379K	p.N515K	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			14	2012	-			515					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1545T>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	5.211	0.224406	0.09863	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.52754	1.89;1.88;0.65	5.49	-1.41	0.08941	.	0.820514	0.11608	N	0.547056	T	0.48114	0.1482	M	0.67953	2.075	0.09310	N	1	B;B;P;B	0.37207	0.225;0.25;0.587;0.112	B;B;B;B	0.41894	0.055;0.066;0.369;0.013	T	0.50338	-0.8840	10	0.72032	D	0.01	-2.3304	10.3439	0.43895	0.6034:0.0:0.3966:0.0	.	480;515;379;515	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	K	515;379;31	ENSP00000369871:N515K;ENSP00000369865:N379K;ENSP00000409615:N31K	ENSP00000369865:N379K	N	-	3	2	HAUS6	19053090	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.093000	0.11111	-0.142000	0.11354	0.379000	0.24179	AAT		0.358	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		51	78	0	0	0	1	0	51	78				
KRT6A	3853	broad.mit.edu	37	12	52884407	52884407	+	Silent	SNP	A	A	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:52884407A>G	ENST00000330722.6	-	5	1091	c.1023T>C	c.(1021-1023)taT>taC	p.Y341Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	341	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAATCTCCTCATATTGGGCCT	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1021-1023)taT>taC		keratin 6A							176.0	169.0	172.0					12																	52884407		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884407A>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1023T>C	12.37:g.52884407A>G							p.Y341Y	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1091	-			341			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1023T>C	CCDS41786.1																																																																																				0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		12	143	0	0	0	1	0	12	143				
TNR	7143	broad.mit.edu	37	1	175334155	175334155	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:175334155T>C	ENST00000367674.2	-	12	3286	c.2578A>G	c.(2578-2580)Atc>Gtc	p.I860V	TNR_ENST00000263525.2_Missense_Mutation_p.I860V			Q92752	TENR_HUMAN	tenascin R	860	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGTGGTGATGGAGCCCACA	0.502																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2578-2580)Atc>Gtc		tenascin R							72.0	72.0	72.0					1																	175334155		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334155T>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2578A>G	1.37:g.175334155T>C	ENSP00000356646:p.Ile860Val					TNR_ENST00000263525.2_Missense_Mutation_p.I860V	p.I860V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			12	3286	-	Renal(580;0.146)		860			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2578A>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	6.584	0.476141	0.12521	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.50813	0.73;0.73	5.91	5.91	0.95273	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.113069	0.64402	D	0.000009	T	0.24005	0.0581	N	0.04132	-0.27	0.40078	D	0.976107	B	0.22909	0.077	B	0.15052	0.012	T	0.18461	-1.0336	10	0.22109	T	0.4	.	10.3717	0.44058	0.0:0.0731:0.0:0.9269	.	860	Q92752	TENR_HUMAN	V	860	ENSP00000356646:I860V;ENSP00000263525:I860V	ENSP00000263525:I860V	I	-	1	0	TNR	173600778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.489000	0.60309	2.254000	0.74563	0.533000	0.62120	ATC		0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		21	29	0	0	0	1	0	21	29				
FBN3	84467	broad.mit.edu	37	19	8196684	8196684	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:8196684A>T	ENST00000600128.1	-	15	2158	c.1744T>A	c.(1744-1746)Tgc>Agc	p.C582S	FBN3_ENST00000270509.2_Missense_Mutation_p.C582S|FBN3_ENST00000601739.1_Missense_Mutation_p.C582S			Q75N90	FBN3_HUMAN	fibrillin 3	582	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGTTCACGCAGATGCCGGGC	0.672																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1744-1746)Tgc>Agc		fibrillin 3							24.0	26.0	25.0					19																	8196684		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196684A>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1744T>A	19.37:g.8196684A>T	ENSP00000470498:p.Cys582Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.C582S|FBN3_ENST00000601739.1_Missense_Mutation_p.C582S	p.C582S			Q75N90	FBN3_HUMAN			15	2158	-			582			EGF-like 7; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1744T>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	a	14.45	2.537575	0.45176	.	.	ENSG00000142449	ENST00000270509	D	0.99429	-5.89	2.92	2.92	0.33932	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99680	0.9880	H	0.99042	4.41	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	D	0.98364	1.0550	10	0.39692	T	0.17	.	10.9744	0.47456	1.0:0.0:0.0:0.0	.	582	Q75N90	FBN3_HUMAN	S	582	ENSP00000270509:C582S	ENSP00000270509:C582S	C	-	1	0	FBN3	8102684	1.000000	0.71417	0.609000	0.28983	0.036000	0.12997	7.956000	0.87863	0.961000	0.38030	0.155000	0.16302	TGC		0.672	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	6	0	0	0	1	0	5	6				
AP1B1	162	broad.mit.edu	37	22	29750667	29750667	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr22:29750667G>A	ENST00000405198.1	-	6	941	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	AP1B1_ENST00000415447.1_Missense_Mutation_p.R304C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R304C|AP1B1_ENST00000357586.2_Missense_Mutation_p.R304C|AP1B1_ENST00000432560.2_Missense_Mutation_p.R304C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R304C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R304C			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTGATGTTGCGCAGGGCCACA	0.592																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(910-912)Cgc>Tgc		adaptor-related protein complex 1, beta 1 subunit							138.0	108.0	118.0					22																	29750667		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29750667G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.910C>T	22.37:g.29750667G>A	ENSP00000384194:p.Arg304Cys					AP1B1_ENST00000432560.2_Missense_Mutation_p.R304C|AP1B1_ENST00000405198.1_Missense_Mutation_p.R304C|AP1B1_ENST00000415447.1_Missense_Mutation_p.R304C|AP1B1_ENST00000402502.1_Missense_Mutation_p.R304C|AP1B1_ENST00000317368.7_Missense_Mutation_p.R304C|AP1B1_ENST00000356015.2_Missense_Mutation_p.R304C	p.R304C	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			7	1096	-			304					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.910C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117865	0.77323	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.75	4.75	0.60458	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044900	0.85682	D	0.000000	T	0.59348	0.2187	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	0.973;0.995;1.0;1.0	B;P;D;D	0.87578	0.388;0.491;0.993;0.998	T	0.65701	-0.6104	10	0.87932	D	0	-14.4935	17.5237	0.87793	0.0:0.0:1.0:0.0	.	304;304;304;304	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	C	304	ENSP00000350199:R304C;ENSP00000348297:R304C;ENSP00000400065:R304C;ENSP00000384194:R304C;ENSP00000319361:R304C;ENSP00000386071:R304C;ENSP00000387612:R304C;ENSP00000400022:R304C	ENSP00000319361:R304C	R	-	1	0	AP1B1	28080667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.223000	0.51231	2.487000	0.83934	0.591000	0.81541	CGC		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		21	13	0	0	0	1	0	21	13				
GPC5	2262	broad.mit.edu	37	13	92380805	92380805	+	Missense_Mutation	SNP	G	G	A	rs372530892		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr13:92380805G>A	ENST00000377067.3	+	4	1412	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R347L(2)|p.R347H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTTGTGGCCGCCCTGTAAGA	0.418																																						ENST00000377067.3																			3	Substitution - Missense(3)	p.R347L(2)|p.R347H(1)	lung(2)|large_intestine(1)	NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1039-1041)cGc>cAc		glypican 5							110.0	113.0	112.0					13																	92380805		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380805G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1040G>A	13.37:g.92380805G>A	ENSP00000366267:p.Arg347His					GPC5_ENST00000483422.1_3'UTR	p.R347H	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			4	1412	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	347					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1040G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	2.216	-0.379434	0.05000	.	.	ENSG00000179399	ENST00000377067	T	0.48836	0.8	5.88	-6.19	0.02078	.	0.766929	0.12691	N	0.447174	T	0.16727	0.0402	N	0.05534	-0.03	0.09310	N	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.30416	-0.9979	10	0.10377	T	0.69	-8.6529	4.9072	0.13804	0.622:0.1319:0.1513:0.0947	.	347	P78333	GPC5_HUMAN	H	347	ENSP00000366267:R347H	ENSP00000366267:R347H	R	+	2	0	GPC5	91178806	0.020000	0.18652	0.744000	0.31058	0.664000	0.39144	-0.447000	0.06828	-0.706000	0.05028	0.557000	0.71058	CGC		0.418	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		36	50	0	0	0	1	0	36	50				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	29	0	0	0	1	0	3	29				
SSPO	23145	broad.mit.edu	37	7	149492709	149492709	+	RNA	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr7:149492709G>A	ENST00000378016.2	+	0	6489							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCTACACTGGCATGACTATC	0.617																																						ENST00000378016.2																			0													SCO-spondin							129.0	140.0	137.0					7																	149492709		2128	4244	6372			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492709G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492709G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6489	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	147	0	0	0	1	0	4	147				
ESPNP	284729	broad.mit.edu	37	1	17017734	17017734	+	RNA	SNP	C	C	T	rs12561805	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:17017734C>T	ENST00000492551.1	-	0	1993					NR_026567.1				espin pseudogene																		CAGCTTCTTCCGCAGGAGGTC	0.647													c|||	1453	0.290136	0.1589	0.3184	5008	,	,		38815	0.4425		0.2913	False		,,,				2504	0.2894					ENST00000492551.1																			0																																																			0							g.chr1:17017734C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017734C>T								NR_026567.1						0	1993	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.647	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			6	20	0	0	0	1	0	6	20				
A1CF	29974	broad.mit.edu	37	10	52619638	52619638	+	Silent	SNP	G	G	A	rs371584214		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr10:52619638G>A	ENST00000373993.1	-	1	107	c.63C>T	c.(61-63)cgC>cgT	p.R21R	A1CF_ENST00000373997.3_Silent_p.R21R|A1CF_ENST00000282641.2_Silent_p.R21R|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000374001.2_Silent_p.R21R|A1CF_ENST00000395495.1_Silent_p.R21R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	21					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGACCAGTGCGCGGAGGGCTG	0.483																																						ENST00000282641.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(61-63)cgC>cgT		APOBEC1 complementation factor		G	,,,,,	0,4406		0,0,2203	100.0	90.0	93.0		63,,,63,63,	-0.2	1.0	10		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-5,utr-5,coding-synonymous,coding-synonymous,utr-5	A1CF	NM_001198818.1,NM_001198819.1,NM_001198820.1,NM_014576.3,NM_138932.2,NM_138933.2	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	21/587,,,21/587,21/595,	52619638	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52619638G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.63C>T	10.37:g.52619638G>A						A1CF_ENST00000395495.1_Silent_p.R21R|A1CF_ENST00000373997.3_Silent_p.R21R|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Silent_p.R21R|A1CF_ENST00000373993.1_Silent_p.R21R	p.R21R	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN			3	250	-			21					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.63C>T	CCDS7242.1																																																																																				0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		30	32	0	0	0	1	0	30	32				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	40	0	0	0	1	0	7	40				
CCDC155	147872	broad.mit.edu	37	19	49910161	49910161	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:49910161G>A	ENST00000447857.3	+	10	1022	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	273						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCTGCTTGCCGAGCGGGATGG	0.488																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(817-819)Gag>Aag		coiled-coil domain containing 155							47.0	50.0	50.0					19																	49910161		1949	4153	6102	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49910161G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.817G>A	19.37:g.49910161G>A	ENSP00000404220:p.Glu273Lys						p.E273K	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			10	1022	+			273					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.817G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694806	0.30052	.	.	ENSG00000161609	ENST00000447857	T	0.41400	1.0	5.29	4.24	0.50183	.	0.638535	0.15812	N	0.243404	T	0.46132	0.1377	M	0.71581	2.175	0.22648	N	0.998893	P;P	0.52316	0.78;0.952	B;P	0.45138	0.093;0.471	T	0.37934	-0.9684	10	0.33940	T	0.23	-25.3857	12.3251	0.55007	0.0:0.1705:0.8295:0.0	.	273;273	C9JGW3;Q8N6L0	.;CC155_HUMAN	K	273	ENSP00000404220:E273K	ENSP00000404220:E273K	E	+	1	0	CCDC155	54601973	0.942000	0.31987	0.686000	0.30086	0.191000	0.23601	2.264000	0.43302	1.387000	0.46486	0.650000	0.86243	GAG		0.488	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		4	10	0	0	0	1	0	4	10				
VAT1L	57687	broad.mit.edu	37	16	77859293	77859293	+	Silent	SNP	C	C	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr16:77859293C>T	ENST00000302536.2	+	3	667	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	172							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTATGTGATGCTGTTTGAAGT	0.527																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(514-516)Ctg>Ttg		vesicle amine transport 1-like							98.0	76.0	83.0					16																	77859293		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77859293C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.514C>T	16.37:g.77859293C>T							p.L172L	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			3	667	+			172					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.514C>T	CCDS32492.1																																																																																				0.527	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		10	8	0	0	0	1	0	10	8				
SPTA1	6708	broad.mit.edu	37	1	158632635	158632635	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:158632635C>T	ENST00000368147.4	-	17	2501	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	774					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R774L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTTCAAATCGGCATACCAA	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R774L(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2320-2322)cGa>cAa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							96.0	95.0	96.0					1																	158632635		1902	4121	6023	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632635C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2321G>A	1.37:g.158632635C>T	ENSP00000357129:p.Arg774Gln					SPTA1_ENST00000368147.3_Missense_Mutation_p.R774Q	p.R774Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			17	2501	-	all_hematologic(112;0.0378)		774					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2321G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028319	0.19512	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.38077	1.16;1.16	4.41	1.56	0.23342	.	0.295815	0.18537	N	0.138320	T	0.21022	0.0506	M	0.75447	2.3	0.40599	D	0.981562	P	0.46277	0.875	B	0.42188	0.379	T	0.03077	-1.1075	10	0.38643	T	0.18	.	7.21	0.25929	0.0:0.719:0.0:0.281	.	774	P02549	SPTA1_HUMAN	Q	774	ENSP00000357130:R774Q;ENSP00000357129:R774Q	ENSP00000357129:R774Q	R	-	2	0	SPTA1	156899259	0.007000	0.16637	0.220000	0.23810	0.005000	0.04900	0.496000	0.22499	0.154000	0.19237	-0.136000	0.14681	CGA		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		26	36	0	0	0	1	0	26	36				
ZNF730	100129543	broad.mit.edu	37	19	23328789	23328789	+	Missense_Mutation	SNP	G	G	A	rs187383116		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:23328789G>A	ENST00000597761.2	+	4	1142	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATACAAATGCGAAAAATGTGG	0.358													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18686	0.0		0.0	False		,,,				2504	0.0					ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(943-945)Gaa>Aaa		zinc finger protein 730																																				SO:0001583	missense	100129543							g.chr19:23328789G>A	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.943G>A	19.37:g.23328789G>A	ENSP00000472959:p.Glu315Lys						p.E315K	NM_001277403.1	NP_001264332.1					4	1142	+									Missense_Mutation	SNP	ENST00000597761.2	37	c.943G>A	CCDS59371.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.314	-0.140104	0.06669	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.916	-0.317	0.12736	.	.	.	.	.	T	0.20861	0.0502	L	0.28776	0.89	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	6	0.15952	T	0.53	.	3.4435	0.07472	0.2442:0.4776:0.2782:0.0	.	.	.	.	K	315	.	ENSP00000329365:E315K	E	+	1	0	ZNF730	23120629	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-2.284000	0.01154	0.300000	0.22699	0.305000	0.20034	GAA		0.358	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		6	16	0	0	0	1	0	6	16				
SCP2D1	140856	broad.mit.edu	37	20	18794834	18794834	+	Silent	SNP	G	G	A	rs543584703		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:18794834G>A	ENST00000377428.2	+	1	465	c.375G>A	c.(373-375)ccG>ccA	p.P125P	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	125	SCP2.																AAATGAACCCGCAGAAGGCTT	0.498													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17244	0.0		0.0	False		,,,				2504	0.0					ENST00000377428.2																			0											c.(373-375)ccG>ccA		SCP2 sterol-binding domain containing 1							52.0	57.0	55.0					20																	18794834		2203	4300	6503	SO:0001819	synonymous_variant	140856							g.chr20:18794834G>A	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.375G>A	20.37:g.18794834G>A						C20orf78_ENST00000278779.4_Intron	p.P125P	NM_178483.2	NP_848578.1					1	465	+								Q548A4	Silent	SNP	ENST00000377428.2	37	c.375G>A	CCDS13139.1																																																																																				0.498	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		3	45	0	0	0	1	0	3	45				
ACACA	31	broad.mit.edu	37	17	35538216	35538216	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr17:35538216G>C	ENST00000394406.2	-	40	4937	c.4747C>G	c.(4747-4749)Ctg>Gtg	p.L1583V	ACACA_ENST00000353139.5_Missense_Mutation_p.L1620V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1505V|ACACA_ENST00000360679.3_Missense_Mutation_p.L1525V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1583					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTGATTGCAGCAGGTCTTTG	0.433																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4858-4860)Ctg>Gtg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						225.0	204.0	211.0					17																	35538216		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35538216G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4747C>G	17.37:g.35538216G>C	ENSP00000377928:p.Leu1583Val					ACACA_ENST00000394406.2_Missense_Mutation_p.L1583V|ACACA_ENST00000360679.3_Missense_Mutation_p.L1525V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1505V	p.L1620V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			40	5339	-		Breast(25;0.00157)|Ovarian(249;0.15)	1583					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4858C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173308	0.57584	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.95853	-3.83;-3.82;-3.83;-3.82	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	M	0.74467	2.265	0.80722	D	1	D;D;P;P	0.71674	0.994;0.998;0.665;0.774	D;D;B;B	0.76575	0.925;0.988;0.114;0.228	D	0.96494	0.9366	10	0.46703	T	0.11	-12.9735	12.7754	0.57443	0.0753:0.0:0.9247:0.0	.	331;1620;1583;1525	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	V	1620;1525;1583;1607;1505;331	ENSP00000344789:L1620V;ENSP00000353898:L1525V;ENSP00000377928:L1583V;ENSP00000335323:L1505V	ENSP00000335323:L1505V	L	-	1	2	ACACA	32612329	1.000000	0.71417	0.918000	0.36340	0.986000	0.74619	5.441000	0.66569	2.675000	0.91044	0.650000	0.86243	CTG		0.433	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		48	83	0	0	0	1	0	48	83				
GRAMD1A	57655	broad.mit.edu	37	19	35512475	35512475	+	Silent	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:35512475G>A	ENST00000317991.5	+	14	1737	c.1545G>A	c.(1543-1545)tcG>tcA	p.S515S	GRAMD1A_ENST00000599564.1_Silent_p.S602S|GRAMD1A_ENST00000411896.2_Silent_p.S508S|GRAMD1A_ENST00000504615.2_Silent_p.S281S|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	515						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAAGAACTCGTGGAGCGGCA	0.582																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1804-1806)tcG>tcA		GRAM domain containing 1A							69.0	73.0	72.0					19																	35512475		1945	4119	6064	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35512475G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1545G>A	19.37:g.35512475G>A						CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.S515S|GRAMD1A_ENST00000411896.2_Silent_p.S508S|GRAMD1A_ENST00000504615.2_Silent_p.S281S	p.S602S			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		15	1877	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		515					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1806G>A	CCDS42546.1																																																																																				0.582	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		26	41	0	0	0	1	0	26	41				
SLC22A5	6584	broad.mit.edu	37	5	131722816	131722816	+	Silent	SNP	G	G	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:131722816G>T	ENST00000245407.3	+	5	1145	c.924G>T	c.(922-924)gtG>gtT	p.V308V	SLC22A5_ENST00000435065.2_Silent_p.V332V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	308					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GGATTGTTGTGCCTTCCACTA	0.557											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(922-924)gtG>gtT		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						303.0	256.0	272.0					5																	131722816		2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722816G>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.924G>T	5.37:g.131722816G>T			OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Silent_p.V332V	p.V308V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1145	+		all_cancers(142;0.0751)|Breast(839;0.198)	308					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.924G>T	CCDS4154.1																																																																																				0.557	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		9	189	1	0	1.76689e-08	1	1.90712e-08	9	189				
OR10H5	284433	broad.mit.edu	37	19	15904883	15904883	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:15904883G>A	ENST00000308940.8	+	1	123	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCACACCTCCGTGTCTGAATT	0.572																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(25-27)Gtg>Atg		olfactory receptor, family 10, subfamily H, member 5							215.0	180.0	191.0					19																	15904883		2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15904883G>A	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.25G>A	19.37:g.15904883G>A	ENSP00000310704:p.Val9Met						p.V9M	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	123	+			9					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.25G>A	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	10.60	1.396057	0.25205	.	.	ENSG00000172519	ENST00000308940	T	0.00327	8.09	3.48	-6.97	0.01616	.	0.736229	0.11525	N	0.555243	T	0.00300	0.0009	M	0.83692	2.655	0.09310	N	1	B	0.16396	0.017	B	0.21151	0.033	T	0.27640	-1.0068	10	0.66056	D	0.02	.	6.469	0.21997	0.3833:0.1247:0.4921:0.0	.	9	Q8NGA6	O10H5_HUMAN	M	9	ENSP00000310704:V9M	ENSP00000310704:V9M	V	+	1	0	OR10H5	15765883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.471000	0.06631	-1.766000	0.01302	-1.158000	0.01797	GTG		0.572	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			39	51	0	0	0	1	0	39	51				
CNTN1	1272	broad.mit.edu	37	12	41323722	41323722	+	Silent	SNP	C	C	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:41323722C>A	ENST00000551295.2	+	7	738	c.621C>A	c.(619-621)ggC>ggA	p.G207G	CNTN1_ENST00000547849.1_Silent_p.G207G|CNTN1_ENST00000348761.2_Silent_p.G196G|CNTN1_ENST00000360099.3_Silent_p.G207G|CNTN1_ENST00000547702.1_Silent_p.G207G|CNTN1_ENST00000347616.1_Silent_p.G207G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	207	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCGACAAAGGCAATTATTCCT	0.368																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(619-621)ggC>ggA		contactin 1							168.0	165.0	166.0					12																	41323722		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41323722C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.621C>A	12.37:g.41323722C>A						CNTN1_ENST00000347616.1_Silent_p.G207G|CNTN1_ENST00000547849.1_Silent_p.G207G|CNTN1_ENST00000547702.1_Silent_p.G207G|CNTN1_ENST00000348761.2_Silent_p.G196G|CNTN1_ENST00000360099.3_Silent_p.G207G	p.G207G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			7	738	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	207			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.621C>A	CCDS8737.1																																																																																				0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		42	130	1	0	6.48837e-15	1	7.35348e-15	42	130				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	54	0	0	0	1	0	4	54				
EMILIN3	90187	broad.mit.edu	37	20	39991122	39991122	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:39991122G>A	ENST00000332312.3	-	4	1279	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	363						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGCTCCTGGCGCAGGGCCAGC	0.672																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1087-1089)Cgc>Tgc		elastin microfibril interfacer 3							13.0	15.0	14.0					20																	39991122		2202	4292	6494	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991122G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1087C>T	20.37:g.39991122G>A	ENSP00000332806:p.Arg363Cys						p.R363C	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1279	-		Myeloproliferative disorder(115;0.00425)	363					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1087C>T	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290897	0.59976	.	.	ENSG00000183798	ENST00000332312	T	0.27720	1.65	5.14	4.12	0.48240	.	0.182769	0.42682	D	0.000673	T	0.46756	0.1409	M	0.64997	1.995	0.51482	D	0.99992	D	0.89917	1.0	D	0.64410	0.925	T	0.36504	-0.9745	9	.	.	.	-20.1125	10.4892	0.44741	0.0:0.0:0.556:0.444	.	363	Q9NT22	EMIL3_HUMAN	C	363	ENSP00000332806:R363C	.	R	-	1	0	EMILIN3	39424536	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.145000	0.64839	2.402000	0.81655	0.561000	0.74099	CGC		0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		4	19	0	0	0	1	0	4	19				
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483													.|||	520	0.103834	0.1944	0.1297	5008	,	,		8025	0.0357		0.0726	False		,,,				2504	0.0654					ENST00000342960.5																			1	Substitution - Missense(1)	p.C3017S(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)Tgt>Agt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359109T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9049T>A	1.37:g.145359109T>A	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9084	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9049T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481396	0.00163	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00412	0.0013	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.02654	T	1	.	.	.	.	rs3967942	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	1	0	NBPF10	144070466	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.392000	0.07314	-0.792000	0.04480	0.128000	0.15822	TGT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	74	0	0	0	1	0	4	74				
CDK14	5218	broad.mit.edu	37	7	90356069	90356069	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr7:90356069G>T	ENST00000380050.3	+	3	443	c.312G>T	c.(310-312)aaG>aaT	p.K104N	CDK14_ENST00000406263.1_Missense_Mutation_p.K58N|CDK14_ENST00000265741.3_Missense_Mutation_p.K86N|CDK14_ENST00000436577.2_Missense_Mutation_p.R7I			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	104					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTAACTTTAAGACCTCCTCCA	0.453																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(172-174)aaG>aaT		cyclin-dependent kinase 14							108.0	96.0	100.0					7																	90356069		2203	4299	6502	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356069G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.312G>T	7.37:g.90356069G>T	ENSP00000369390:p.Lys104Asn					CDK14_ENST00000265741.3_Missense_Mutation_p.K86N|CDK14_ENST00000380050.3_Missense_Mutation_p.K104N|CDK14_ENST00000436577.2_Missense_Mutation_p.R7I	p.K58N			O94921	CDK14_HUMAN			2	616	+			104					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.174G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.009123|3.009123	0.54361|0.54361	.|.	.|.	ENSG00000058091|ENSG00000058091	ENST00000449528;ENST00000446224;ENST00000430760;ENST00000456689;ENST00000380050;ENST00000446790;ENST00000265741;ENST00000406263|ENST00000436577	T;T;T;T;T;T;T|T	0.71103|0.71934	2.18;2.18;2.18;2.18;-0.54;-0.53;-0.52|-0.61	5.29|5.29	4.39|4.39	0.52855|0.52855	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.56108|0.56108	0.1963|0.1963	N|N	0.24115|0.24115	0.695|0.695	0.41309|0.41309	D|D	0.98709|0.98709	D;D|B	0.61080|0.29085	0.989;0.981|0.232	D;D|B	0.72625|0.26517	0.978;0.966|0.07	T|T	0.57797|0.57797	-0.7749|-0.7749	10|9	0.28530|0.66056	T|D	0.3|0.02	-14.906|-14.906	11.1706|11.1706	0.48569|0.48569	0.163:0.0:0.837:0.0|0.163:0.0:0.837:0.0	.|.	86;104|7	O94921-2;O94921|E7EUK8	.;CDK14_HUMAN|.	N|I	58;58;58;58;104;58;86;58|7	ENSP00000393616:K58N;ENSP00000410770:K58N;ENSP00000394570:K58N;ENSP00000406848:K58N;ENSP00000369390:K104N;ENSP00000265741:K86N;ENSP00000385034:K58N|ENSP00000398936:R7I	ENSP00000265741:K86N|ENSP00000398936:R7I	K|R	+|+	3|2	2|0	CDK14|CDK14	90194005|90194005	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.993000|0.993000	0.82548|0.82548	3.231000|3.231000	0.51294|0.51294	1.200000|1.200000	0.43188|0.43188	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.453	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		22	43	1	0	1.10513e-12	1	1.21208e-12	22	43				
DUS1L	64118	broad.mit.edu	37	17	80019841	80019841	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr17:80019841G>A	ENST00000354321.7	-	5	1014	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	177							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCCTTGGTGCGTCCGTGCACC	0.667																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(529-531)Cgc>Tgc		dihydrouridine synthase 1-like (S. cerevisiae)							101.0	90.0	93.0					17																	80019841		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019841G>A		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.529C>T	17.37:g.80019841G>A	ENSP00000346280:p.Arg177Cys					DUS1L_ENST00000306796.5_Missense_Mutation_p.R177C	p.R177C			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		5	1014	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		177					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.529C>T	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393786	0.25205	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.76968	-1.06;-1.06;-1.06	4.12	4.12	0.48240	Aldolase-type TIM barrel (1);	0.115474	0.64402	D	0.000018	D	0.93054	0.7789	H	0.99238	4.48	0.80722	D	1	P;D;P	0.76494	0.944;0.999;0.938	P;D;D	0.72625	0.631;0.978;0.912	D	0.96289	0.9212	10	0.87932	D	0	-24.1328	16.5301	0.84355	0.0:0.0:1.0:0.0	.	50;177;46	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	C	177;177;50;45	ENSP00000346280:R177C;ENSP00000303515:R177C;ENSP00000445110:R45C	ENSP00000303515:R177C	R	-	1	0	DUS1L	77613130	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	4.244000	0.58728	2.122000	0.65172	0.557000	0.71058	CGC		0.667	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		29	40	0	0	0	1	0	29	40				
COL21A1	81578	broad.mit.edu	37	6	55932100	55932100	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr6:55932100C>A	ENST00000244728.5	-	23	2517	c.2120G>T	c.(2119-2121)gGt>gTt	p.G707V	COL21A1_ENST00000370819.1_Missense_Mutation_p.G704V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G107V|COL21A1_ENST00000535941.1_Missense_Mutation_p.G707V|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	707	Collagen-like 4.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTGAATACCTTTTTCACC	0.294																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(2119-2121)gGt>gTt		collagen, type XXI, alpha 1							95.0	91.0	92.0					6																	55932100		1811	4078	5889	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55932100C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2120G>T	6.37:g.55932100C>A	ENSP00000244728:p.Gly707Val					COL21A1_ENST00000370819.1_Missense_Mutation_p.G704V|COL21A1_ENST00000370808.2_Missense_Mutation_p.G107V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G707V	p.G707V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		23	2517	-	Lung NSC(77;0.0483)		707			Collagen-like 4.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2120G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801354	0.50315	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99637	-6.29;-5.89;-6.29;-6.29	4.99	4.99	0.66335	.	0.000000	0.52532	U	0.000064	D	0.99854	0.9932	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96344	0.9253	10	0.87932	D	0	.	17.8895	0.88867	0.0:1.0:0.0:0.0	.	107;707	Q96P44-2;Q96P44	.;COLA1_HUMAN	V	707;704;707;704;107	ENSP00000244728:G707V;ENSP00000359855:G704V;ENSP00000444384:G707V;ENSP00000359844:G107V	ENSP00000244728:G707V	G	-	2	0	COL21A1	56040059	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.166000	0.64965	2.302000	0.77476	0.563000	0.77884	GGT		0.294	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			13	22	1	0	2.62699e-14	1	2.92845e-14	13	22				
NCOR2	9612	broad.mit.edu	37	12	124856836	124856836	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:124856836C>T	ENST00000405201.1	-	20	2539	c.2539G>A	c.(2539-2541)Gcg>Acg	p.A847T	NCOR2_ENST00000397355.1_Missense_Mutation_p.A830T|NCOR2_ENST00000404621.1_Missense_Mutation_p.A829T|NCOR2_ENST00000429285.2_Missense_Mutation_p.A829T|NCOR2_ENST00000356219.3_Missense_Mutation_p.A847T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A400T			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	847					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCAGCCGCGGGGGGCTTC	0.697																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2539-2541)Gcg>Acg		nuclear receptor corepressor 2							17.0	21.0	20.0					12																	124856836		1966	4124	6090	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856836C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2539G>A	12.37:g.124856836C>T	ENSP00000384018:p.Ala847Thr					NCOR2_ENST00000429285.2_Missense_Mutation_p.A829T|NCOR2_ENST00000404621.1_Missense_Mutation_p.A829T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A847T|NCOR2_ENST00000404121.2_Missense_Mutation_p.A400T|NCOR2_ENST00000397355.1_Missense_Mutation_p.A830T	p.A847T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2694	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		847					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2539G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894685	0.33442	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.48836	1.56;1.56;1.56;1.56;1.0;1.56;0.8	4.77	2.89	0.33648	.	1.049870	0.07506	N	0.908109	T	0.33381	0.0861	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17268	0.012;0.012;0.021	B;B;B	0.16722	0.01;0.007;0.016	T	0.26467	-1.0102	10	0.13853	T	0.58	-4.7257	9.7577	0.40513	0.0:0.7806:0.1407:0.0787	.	829;830;847	C9J0Q5;C9J239;C9JFD3	.;.;.	T	847;829;847;830;846;400;829;847	ENSP00000384018:A847T;ENSP00000384202:A829T;ENSP00000348551:A847T;ENSP00000380513:A830T;ENSP00000385618:A400T;ENSP00000400281:A829T;ENSP00000402808:A847T	ENSP00000348551:A847T	A	-	1	0	NCOR2	123422789	0.003000	0.15002	0.002000	0.10522	0.005000	0.04900	1.666000	0.37460	0.408000	0.25621	-0.224000	0.12420	GCG		0.697	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		8	22	0	0	0	1	0	8	22				
CLPB	81570	broad.mit.edu	37	11	72006547	72006547	+	Missense_Mutation	SNP	G	G	A	rs149985372	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr11:72006547G>A	ENST00000294053.3	-	13	1738	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	CLPB_ENST00000538021.1_Missense_Mutation_p.A130V|CLPB_ENST00000543042.1_Missense_Mutation_p.A321V|CLPB_ENST00000340729.5_Missense_Mutation_p.A463V|CLPB_ENST00000538039.1_Missense_Mutation_p.A492V|CLPB_ENST00000437826.2_Missense_Mutation_p.A477V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	522					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CAGGTTTTCGGCAATACGGTT	0.602																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(1564-1566)gCc>gTc		ClpB caseinolytic peptidase B homolog (E. coli)							115.0	83.0	93.0					11																	72006547		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72006547G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1565C>T	11.37:g.72006547G>A	ENSP00000294053:p.Ala522Val					CLPB_ENST00000437826.2_Missense_Mutation_p.A477V|CLPB_ENST00000538021.1_Missense_Mutation_p.A130V|CLPB_ENST00000340729.5_Missense_Mutation_p.A463V|CLPB_ENST00000543042.1_Missense_Mutation_p.A321V|CLPB_ENST00000538039.1_Missense_Mutation_p.A492V	p.A522V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			13	1738	-			522					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.1565C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.44|19.44	3.827654|3.827654	0.71143|0.71143	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021|ENST00000544382	T;T;T;T;T;T|.	0.65732|.	1.91;1.14;2.13;-0.17;2.38;0.43|.	4.8|4.8	4.8|4.8	0.61643|0.61643	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68504|0.68504	0.3008|0.3008	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B;B;B;P;D;B|.	0.63880|.	0.064;0.335;0.387;0.539;0.993;0.064|.	B;B;B;B;P;B|.	0.62649|.	0.035;0.084;0.211;0.19;0.905;0.038|.	T|T	0.66806|0.66806	-0.5830|-0.5830	10|5	0.62326|.	D|.	0.03|.	-8.7936|-8.7936	16.4633|16.4633	0.84071|0.84071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	321;463;477;492;522;130|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777|.	.;.;.;.;CLPB_HUMAN;.|.	V|S	522;492;527;463;477;321;130|300	ENSP00000294053:A522V;ENSP00000441518:A492V;ENSP00000443822:A527V;ENSP00000340385:A463V;ENSP00000407296:A477V;ENSP00000439746:A321V|.	ENSP00000294053:A522V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71684195|71684195	1.000000|1.000000	0.71417|0.71417	0.232000|0.232000	0.24009|0.24009	0.993000|0.993000	0.82548|0.82548	9.434000|9.434000	0.97515|0.97515	2.220000|2.220000	0.72140|0.72140	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.602	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		3	40	0	0	0	1	0	3	40				
LVRN	206338	broad.mit.edu	37	5	115298662	115298662	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:115298662G>T	ENST00000357872.4	+	1	472	c.348G>T	c.(346-348)agG>agT	p.R116S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		116						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CGCAGCTGAGGCCCGACGAGC	0.697																																						ENST00000357872.4																			0											c.(346-348)agG>agT									41.0	47.0	45.0					5																	115298662		2202	4298	6500	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298662G>T																												ENST00000357872.4:c.348G>T	5.37:g.115298662G>T	ENSP00000350541:p.Arg116Ser					AQPEP_ENST00000395528.2_5'UTR	p.R116S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			1	472	+			116					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.348G>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	0.811	-0.751909	0.03041	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03951	3.75	4.71	1.91	0.25777	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.399189	0.18435	N	0.141301	T	0.01627	0.0052	N	0.00885	-1.115	0.21527	N	0.99966	P	0.43231	0.801	B	0.41374	0.355	T	0.47355	-0.9124	10	0.27785	T	0.31	.	7.2351	0.26066	0.2948:0.0:0.7052:0.0	.	116	Q6Q4G3	AMPQ_HUMAN	S	116	ENSP00000350541:R116S	ENSP00000350541:R116S	R	+	3	2	AC010282.1	115326561	0.000000	0.05858	0.377000	0.26055	0.048000	0.14542	-0.661000	0.05311	0.431000	0.26258	0.650000	0.86243	AGG		0.697	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			23	38	1	0	6.12954e-19	1	7.18635e-19	23	38				
MYO7B	4648	broad.mit.edu	37	2	128335755	128335755	+	Silent	SNP	C	C	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:128335755C>T	ENST00000409816.2	+	8	929	c.897C>T	c.(895-897)gcC>gcT	p.A299A	MYO7B_ENST00000389524.4_Silent_p.A299A|MYO7B_ENST00000428314.1_Silent_p.A299A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	299	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGACTACGCCCACATCCGCT	0.627																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(895-897)gcC>gcT		myosin VIIB							62.0	69.0	67.0					2																	128335755		2126	4222	6348	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335755C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.897C>T	2.37:g.128335755C>T						MYO7B_ENST00000428314.1_Silent_p.A299A|MYO7B_ENST00000409816.2_Silent_p.A299A	p.A299A			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	950	+	Colorectal(110;0.1)		299			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.897C>T	CCDS46405.1																																																																																				0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	14	0	0	0	1	0	5	14				
NEU4	129807	broad.mit.edu	37	2	242757477	242757477	+	Nonsense_Mutation	SNP	T	T	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:242757477T>A	ENST00000391969.2	+	5	1269	c.558T>A	c.(556-558)tgT>tgA	p.C186*	NEU4_ENST00000325935.6_Nonsense_Mutation_p.C199*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.C198*|NEU4_ENST00000405370.1_Nonsense_Mutation_p.C186*|NEU4_ENST00000407683.1_Nonsense_Mutation_p.C186*	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	186					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCGAGAGTGTTTTGGCAAGA	0.677																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(556-558)tgT>tgA		sialidase 4							85.0	56.0	66.0					2																	242757477		2199	4300	6499	SO:0001587	stop_gained	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757477T>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.558T>A	2.37:g.242757477T>A	ENSP00000375830:p.Cys186*					NEU4_ENST00000405370.1_Nonsense_Mutation_p.C186*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.C198*|NEU4_ENST00000325935.6_Nonsense_Mutation_p.C199*|NEU4_ENST00000407683.1_Nonsense_Mutation_p.C186*	p.C186*	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	5	1269	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	186					A8K056|J3KNJ5|Q96D64	Nonsense_Mutation	SNP	ENST00000391969.2	37	c.558T>A	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	38|38	7.232604|7.232604	0.98154|0.98154	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288|ENST00000415936;ENST00000426032	.|T;T	.|0.36699	.|1.24;1.25	4.55|4.55	2.15|2.15	0.27550|0.27550	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.44329	.|0.1288	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27773	.|-1.0064	.|6	0.02654|0.62326	T|D	1|0.03	-30.1584|-30.1584	8.1546|8.1546	0.31160|0.31160	0.0:0.6832:0.0:0.3168|0.0:0.6832:0.0:0.3168	.|.	.|.	.|.	.|.	X|D	186;186;196;186;198;186;199;186|101;113	.|ENSP00000397167:V101D;ENSP00000406678:V113D	ENSP00000320318:C199X|ENSP00000397167:V101D	C|V	+|+	3|2	2|0	NEU4|NEU4	242406150|242406150	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.930000|0.930000	0.56654|0.56654	0.937000|0.937000	0.28951|0.28951	0.122000|0.122000	0.18314|0.18314	-0.497000|-0.497000	0.04613|0.04613	TGT|GTT		0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		8	15	0	0	0	1	0	8	15				
GTSF1L	149699	broad.mit.edu	37	20	42354963	42354963	+	Missense_Mutation	SNP	C	C	A	rs558143560		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:42354963C>A	ENST00000373003.1	-	1	675	c.372G>T	c.(370-372)aaG>aaT	p.K124N	GTSF1L_ENST00000373005.2_Missense_Mutation_p.K99N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	124							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAAACAACCTTTTGAGGAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		21265	0.0		0.0	False		,,,				2504	0.001					ENST00000373003.1																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(370-372)aaG>aaT		gametocyte specific factor 1-like							106.0	98.0	101.0					20																	42354963		2203	4300	6503	SO:0001583	missense	149699						metal ion binding	g.chr20:42354963C>A	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.372G>T	20.37:g.42354963C>A	ENSP00000362094:p.Lys124Asn					GTSF1L_ENST00000373005.2_Missense_Mutation_p.K99N	p.K124N	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	675	-		Myeloproliferative disorder(115;0.00452)	124					Q5JWH5	Missense_Mutation	SNP	ENST00000373003.1	37	c.372G>T	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481734	0.44147	.	.	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.54675	0.87;0.56	3.68	2.73	0.32206	.	0.103397	0.41097	D	0.000942	T	0.33847	0.0877	N	0.24115	0.695	0.32581	N	0.528437	P;P	0.47409	0.895;0.808	B;B	0.43754	0.43;0.226	T	0.36383	-0.9750	10	0.16896	T	0.51	-11.5991	6.3979	0.21622	0.0:0.8629:0.0:0.1371	.	124;99	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	N	124;99	ENSP00000362094:K124N;ENSP00000362096:K99N	ENSP00000362094:K124N	K	-	3	2	GTSF1L	41788377	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	1.367000	0.34204	1.103000	0.41568	0.430000	0.28490	AAG		0.502	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		45	60	1	0	3.43241e-23	1	4.09481e-23	45	60				
NR4A1	3164	broad.mit.edu	37	12	52448435	52448435	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:52448435T>G	ENST00000243050.1	+	3	637	c.323T>G	c.(322-324)gTg>gGg	p.V108G	NR4A1_ENST00000550082.1_Missense_Mutation_p.V121G|NR4A1_ENST00000360284.3_Missense_Mutation_p.V121G|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000548232.1_Missense_Mutation_p.V108G|NR4A1_ENST00000545748.1_Missense_Mutation_p.V162G|NR4A1_ENST00000394824.2_Missense_Mutation_p.V108G|NR4A1_ENST00000394825.1_Missense_Mutation_p.V108G	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	108					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GACTTCCAGGTGTACGGCTGC	0.672																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(484-486)gTg>gGg		nuclear receptor subfamily 4, group A, member 1							93.0	84.0	87.0					12																	52448435		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448435T>G	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.323T>G	12.37:g.52448435T>G	ENSP00000243050:p.Val108Gly					NR4A1_ENST00000360284.3_Missense_Mutation_p.V121G|NR4A1_ENST00000394824.2_Missense_Mutation_p.V108G|NR4A1_ENST00000394825.1_Missense_Mutation_p.V108G|NR4A1_ENST00000550082.1_Missense_Mutation_p.V121G|NR4A1_ENST00000548232.1_Missense_Mutation_p.V108G|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000243050.1_Missense_Mutation_p.V108G	p.V162G			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	1480	+			108					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.485T>G	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710626	0.89112	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000550763;ENST00000394824;ENST00000548232	D;D;D;D;D;T;D;D	0.93247	-3.13;-3.15;-3.13;-3.12;-3.12;0.53;-3.12;-3.19	4.84	4.84	0.62591	.	1.226840	0.05824	N	0.616326	D	0.94056	0.8095	L	0.29908	0.895	0.80722	D	1	P;D;D	0.71674	0.914;0.977;0.998	P;P;D	0.63597	0.505;0.685;0.916	D	0.86372	0.1724	10	0.20046	T	0.44	.	13.8275	0.63359	0.0:0.0:0.0:1.0	.	121;108;108	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	G	121;162;121;108;108;108;108;108	ENSP00000353427:V121G;ENSP00000440864:V162G;ENSP00000449539:V121G;ENSP00000243050:V108G;ENSP00000378302:V108G;ENSP00000449858:V108G;ENSP00000378301:V108G;ENSP00000449587:V108G	ENSP00000243050:V108G	V	+	2	0	NR4A1	50734702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.477000	0.81069	2.171000	0.68590	0.459000	0.35465	GTG;GTG;GTG;GTG;GTG;GTC;GTG;GTG		0.672	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			15	45	0	0	0	1	0	15	45				
POU5F1B	5462	broad.mit.edu	37	8	128428597	128428597	+	Nonsense_Mutation	SNP	T	T	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr8:128428597T>G	ENST00000465342.2	+	2	1643	c.486T>G	c.(484-486)taT>taG	p.Y162*	CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Nonsense_Mutation_p.Y162*|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	162	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						CCCTGGGATATACACAGGCCG	0.517																																						ENST00000465342.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(484-486)taT>taG		POU class 5 homeobox 1B							53.0	59.0	57.0					8																	128428597		692	1591	2283	SO:0001587	stop_gained	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428597T>G	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.486T>G	8.37:g.128428597T>G	ENSP00000419298:p.Tyr162*					CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Nonsense_Mutation_p.Y162*|CASC8_ENST00000502082.1_RNA	p.Y162*			Q06416	P5F1B_HUMAN			2	1643	+			162			POU-specific.		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Nonsense_Mutation	SNP	ENST00000465342.2	37	c.486T>G	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	T	46	12.484851	0.99671	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	.	.	.	1.14	-2.28	0.06826	.	0.000000	0.37053	N	0.002263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9159	0.05752	0.2035:0.3107:0.0:0.4857	.	.	.	.	X	162	.	ENSP00000375557:Y162X	Y	+	3	2	POU5F1B	128497779	0.993000	0.37304	0.694000	0.30210	0.725000	0.41563	0.111000	0.15458	-1.377000	0.02123	0.113000	0.15668	TAT		0.517	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		3	16	0	0	0	1	0	3	16				
FKBP4	2288	broad.mit.edu	37	12	2909556	2909556	+	Splice_Site	SNP	A	A	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr12:2909556A>G	ENST00000001008.4	+	8	1033		c.e8-1		RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa						androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTCCCATTCCAGGAAGGTAAA	0.468																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.e8-1		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						67.0	61.0	63.0					12																	2909556		2203	4300	6503	SO:0001630	splice_region_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2909556A>G	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.847-1A>G	12.37:g.2909556A>G						RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA		NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		8	1033	+								D3DUQ1|Q9UCP1|Q9UCV7	Splice_Site	SNP	ENST00000001008.4	37		CCDS8512.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463963	0.43736	.	.	ENSG00000004478	ENST00000001008	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5916	0.68368	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FKBP4	2779817	1.000000	0.71417	0.912000	0.35992	0.403000	0.30841	6.962000	0.76048	2.046000	0.60703	0.459000	0.35465	.		0.468	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		Intron	13	16	0	0	0	1	0	13	16				
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						ENST00000285718.7																			5	Substitution - coding silent(5)	p.P304P(5)	kidney(3)|endometrium(2)																																																0							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						WASH6P_ENST00000461007.1_RNA								0	819	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	6	0	0	0	1	0	4	6				
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						ENST00000434710.1																			0																				176.0	114.0	134.0					14																	106926482		2031	4150	6181			0							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C														0	139	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		4	170	0	0	0	1	0	4	170				
ITGA9	3680	broad.mit.edu	37	3	37792013	37792013	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr3:37792013C>G	ENST00000264741.5	+	23	2750	c.2494C>G	c.(2494-2496)Cga>Gga	p.R832G	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	832					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R832*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTCCCTAATCGACTCTCATC	0.488																																						ENST00000264741.5																			1	Substitution - Nonsense(1)	p.R832*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2494-2496)Cga>Gga		integrin, alpha 9							194.0	170.0	178.0					3																	37792013		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37792013C>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2494C>G	3.37:g.37792013C>G	ENSP00000264741:p.Arg832Gly					AC093415.2_ENST00000449586.1_RNA	p.R832G	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	23	2750	+			832					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2494C>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437156	0.62955	.	.	ENSG00000144668	ENST00000264741	T	0.57107	0.42	5.26	5.26	0.73747	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.63428	1.95	0.58432	D	0.999999	P	0.35208	0.49	B	0.35073	0.195	T	0.56848	-0.7911	10	0.48119	T	0.1	.	18.0056	0.89208	0.0:1.0:0.0:0.0	.	832	Q13797	ITA9_HUMAN	G	832	ENSP00000264741:R832G	ENSP00000264741:R832G	R	+	1	2	ITGA9	37767017	1.000000	0.71417	0.551000	0.28230	0.683000	0.39861	4.712000	0.61888	2.616000	0.88540	0.561000	0.74099	CGA		0.488	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		23	50	0	0	0	1	0	23	50				
RGL3	57139	broad.mit.edu	37	19	11516074	11516074	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:11516074G>A	ENST00000380456.3	-	8	1088	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	RGL3_ENST00000393423.3_Missense_Mutation_p.S342F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	342	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGCGCGCAAGGAGGAGAAGTT	0.617																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(1024-1026)tCc>tTc		ral guanine nucleotide dissociation stimulator-like 3							23.0	22.0	22.0					19																	11516074		2203	4299	6502	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11516074G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1025C>T	19.37:g.11516074G>A	ENSP00000369823:p.Ser342Phe					RGL3_ENST00000393423.3_Missense_Mutation_p.S342F	p.S342F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			8	1088	-			342			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1025C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240645	0.79912	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.41400	1.0;1.0	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.85524	0.1205	10	0.87932	D	0	.	17.6326	0.88113	0.0:0.0:1.0:0.0	.	342;342;342;139	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	F	139;342;342	ENSP00000377075:S342F;ENSP00000369823:S342F	ENSP00000344665:S139F	S	-	2	0	RGL3	11377074	1.000000	0.71417	0.134000	0.22075	0.585000	0.36419	9.041000	0.93788	2.461000	0.83175	0.563000	0.77884	TCC		0.617	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		4	2	0	0	0	1	0	4	2				
SEMA6A	57556	broad.mit.edu	37	5	115783231	115783231	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr5:115783231G>A	ENST00000343348.6	-	19	2958	c.2171C>T	c.(2170-2172)aCg>aTg	p.T724M	SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103M|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724M|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201M|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741M|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151M	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	724					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATGAGTGGCGTGAGGATGGC	0.632																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2170-2172)aCg>aTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							162.0	173.0	169.0					5																	115783231		2193	4290	6483	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783231G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2171C>T	5.37:g.115783231G>A	ENSP00000345512:p.Thr724Met					SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741M|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151M	p.T724M	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2958	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	724					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2171C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.536500|3.536500	0.65085|0.65085	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.55234	.|2.06;2.09;0.53;2.44;0.61;2.06	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.183477	.|0.47852	.|D	.|0.000209	T|T	0.70833|0.70833	0.3269|0.3269	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.977;0.999;0.997;0.999;0.998	T|T	0.74808|0.74808	-0.3539|-0.3539	5|10	.|0.87932	.|D	.|0	.|.	17.5933|17.5933	0.88004|0.88004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;724;268;741;201;151	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	C|M	239|724;741;151;201;103;724	.|ENSP00000345512:T724M;ENSP00000257414:T741M;ENSP00000422997:T151M;ENSP00000282394:T201M;ENSP00000425364:T103M;ENSP00000424388:T724M	.|ENSP00000257414:T741M	R|T	-|-	1|2	0|0	SEMA6A|SEMA6A	115811130|115811130	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	9.372000|9.372000	0.97165|0.97165	2.244000|2.244000	0.73946|0.73946	0.603000|0.603000	0.83216|0.83216	CGC|ACG		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	199	0	0	0	1	0	5	199				
SLC30A2	7780	broad.mit.edu	37	1	26371585	26371585	+	Silent	SNP	A	A	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:26371585A>G	ENST00000374278.3	-	2	390	c.174T>C	c.(172-174)ggT>ggC	p.G58G	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Silent_p.G58G	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	58					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGTCAGGACCCTTCTGAG	0.592																																						ENST00000374278.3																			0				cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13						c.(172-174)ggT>ggC		solute carrier family 30 (zinc transporter), member 2							143.0	136.0	139.0					1																	26371585		2203	4300	6503	SO:0001819	synonymous_variant	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371585A>G	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.174T>C	1.37:g.26371585A>G						SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Silent_p.G58G	p.G58G	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	390	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	58					Q71RC8	Silent	SNP	ENST00000374278.3	37	c.174T>C	CCDS272.1																																																																																				0.592	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		35	70	0	0	0	1	0	35	70				
FRG1B	284802	broad.mit.edu	37	20	29628296	29628296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr20:29628296A>T	ENST00000278882.3	+	6	678	c.298A>T	c.(298-300)Aaa>Taa	p.K100*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	100										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGAAGCAAAAAGTAAAAC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(298-300)Aaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628296A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.298A>T	20.37:g.29628296A>T	ENSP00000278882:p.Lys100*					FRG1B_ENST00000358464.4_Nonsense_Mutation_p.K100*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.K105*	p.K100*							6	678	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.298A>T		.	.	.	.	.	.	.	.	.	.	a	35	5.542616	0.96474	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.204250	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1326	0.14919	0.6914:0.3086:0.0:0.0	.	.	.	.	X	100;105;100	.	ENSP00000278882:K100X	K	+	1	0	FRG1B	28241957	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.124000	0.71620	1.208000	0.43306	0.347000	0.21830	AAA		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	67	0	0	0	1	0	7	67				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	10	1	0	0.115264	1	0.116984	3	10				
TGOLN2	10618	broad.mit.edu	37	2	85554607	85554607	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr2:85554607T>C	ENST00000409232.3	-	2	309	c.248A>G	c.(247-249)aAg>aGg	p.K83R	TGOLN2_ENST00000444342.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000377386.3_Missense_Mutation_p.K83R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.K83R			O43493	TGON2_HUMAN	trans-golgi network protein 2	83	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CGCACCCGACTTGTTGGGGGT	0.602																																						ENST00000377386.3																			0											c.(247-249)aAg>aGg		trans-golgi network protein 2							243.0	238.0	240.0					2																	85554607		1924	4137	6061	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554607T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.248A>G	2.37:g.85554607T>C	ENSP00000386443:p.Lys83Arg					TGOLN2_ENST00000409232.3_Missense_Mutation_p.K83R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.K83R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000444342.2_Missense_Mutation_p.K83R|TGOLN2_ENST00000282120.2_Intron	p.K83R			O43493	TGON2_HUMAN			2	710	-			83			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.248A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	4.674	0.125323	0.08931	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.13538	2.69;2.58;2.63;2.7;2.73	2.35	-3.55	0.04639	.	.	.	.	.	T	0.07503	0.0189	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.17667	0.005;0.011;0.023;0.005	B;B;B;B	0.16289	0.003;0.005;0.015;0.008	T	0.35748	-0.9776	9	0.34782	T	0.22	.	4.1864	0.10400	0.0:0.2308:0.342:0.4271	.	83;83;83;83	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	R	83	ENSP00000366603:K83R;ENSP00000381312:K83R;ENSP00000386443:K83R;ENSP00000387035:K83R;ENSP00000391190:K83R	ENSP00000366603:K83R	K	-	2	0	TGOLN2	85408118	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-2.021000	0.01440	-0.860000	0.04099	-0.639000	0.03973	AAG		0.602	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	461	0	0	0	1	0	6	461				
TRPC5	7224	broad.mit.edu	37	X	111156017	111156017	+	Silent	SNP	C	C	A			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chrX:111156017C>A	ENST00000262839.2	-	3	1320	c.402G>T	c.(400-402)acG>acT	p.T134T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	134					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGAGAACTGCGTGTCCATCA	0.458																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(400-402)acG>acT		transient receptor potential cation channel, subfamily C, member 5							94.0	81.0	86.0					X																	111156017		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111156017C>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.402G>T	X.37:g.111156017C>A							p.T134T	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			3	1320	-			134					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.402G>T	CCDS14561.1																																																																																				0.458	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		5	28	1	0	3.59834e-05	1	3.76441e-05	5	28				
IARS2	55699	broad.mit.edu	37	1	220300180	220300180	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr1:220300180T>G	ENST00000302637.5	+	14	1936	c.1832T>G	c.(1831-1833)cTt>cGt	p.L611R	IARS2_ENST00000366922.1_Missense_Mutation_p.L539R	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	611					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCTTATGTTCTTCCAGGTAAT	0.363																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1615-1617)cTt>cGt		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						190.0	178.0	182.0					1																	220300180		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220300180T>G	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1832T>G	1.37:g.220300180T>G	ENSP00000303279:p.Leu611Arg					IARS2_ENST00000302637.5_Missense_Mutation_p.L611R	p.L539R			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	14	1947	+			611					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1616T>G	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037137	0.75617	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.52295	0.67;0.67	5.7	4.58	0.56647	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74754	-0.3558	10	0.87932	D	0	-3.5317	11.1953	0.48709	0.0:0.0723:0.0:0.9277	.	611	Q9NSE4	SYIM_HUMAN	R	539;611	ENSP00000355889:L539R;ENSP00000303279:L611R	ENSP00000303279:L611R	L	+	2	0	IARS2	218366803	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	6.711000	0.74675	1.000000	0.39049	0.460000	0.39030	CTT		0.363	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		37	28	0	0	0	1	0	37	28				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-	rs368249579	byFrequency	TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AACGAAGAGAAGAGAGAGAGAG	0.391														64	0.0127796	0.028	0.0014	5008	,	,		16418	0.004		0.002	False		,,,				2504	0.0204					ENST00000354926.4																			0											c.(742-747)gaagfs						136,3410		1,134,1638						5.1	1.0			34	290,7544		0,290,3627	no	frameshift	LUC7L2	NM_016019.3		1,424,5265	A1A1,A1R,RR		3.7018,3.8353,3.7434				426,10954				SO:0001589	frameshift_variant	0							g.chr7:139094365_139094366delAG		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.744_745delAG	7.37:g.139094375_139094376delAG	ENSP00000347005:p.Glu248fs					C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs	p.EE248fs	NM_016019.3	NP_057103.2					7	1098_1099	+									Frame_Shift_Del	DEL	ENST00000354926.4	37	c.744_745delAG	CCDS43656.1																																																																																				0.391	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			3	3						3	3	---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124219887	124219887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9OL-01A-11D-A41K-08	TCGA-V1-A9OL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10d212ad-7a3d-4bb9-849e-3bcf4fcdf741	8630a7bf-bde9-4726-ac4d-8641b8365de9	g.chr8:124219887delC	ENST00000518448.1	+	5	3278	c.1264delC	c.(1264-1266)ccafs	p.P422fs	FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P422fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	422										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGGCTGACTCCAACCTGGAG	0.706																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1264-1266)cafs		family with sequence similarity 83, member A							4.0	4.0	4.0					8																	124219887		1820	3737	5557	SO:0001589	frameshift_variant	84985							g.chr8:124219887delC	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1264delC	8.37:g.124219887delC	ENSP00000428876:p.Pro422fs					FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P422fs|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron	p.P422fs			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3278	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		422					Q71HL2|Q8N7I1|Q96I47	Frame_Shift_Del	DEL	ENST00000518448.1	37	c.1264delC	CCDS6340.1																																																																																				0.706	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		2	4						2	4	---	---	---	---
